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  • Exercise-Induced Bronchoconstriction Wikipedia
    Chest . 128 (6): 3966-3974. doi : 10.1016/S0012-3692(15)49641-2 . Retrieved 28 November 2020 . ^ a b Anderson SD, Kippelen P (March 2005).
    DNAH11, CD63, LTB4R, LTB, LTC4S, YAP1, CYSLTR1, FRMD6
    • Exercise-Induced Asthma Mayo_clinic
      Overview Exercise-induced asthma is when the airways narrow or squeeze during hard physical activity. It causes shortness of breath, wheezing, coughing, and other symptoms during or after exercise. The medical term for this condition is exercise-induced bronchoconstriction (brong-koh-kun-STRIK-shun). Many people with asthma have exercise-induced bronchoconstriction. But people without asthma also can have it. Most people with exercise-induced bronchoconstriction can continue to exercise and remain active if they treat symptoms.
  • Pseudomyxoma Peritonei Wikipedia
    "Estimating the Prevalence of Pseudomyxoma Peritonei in Europe Using a Novel Statistical Method" . Annals of Surgical Oncology . 28 (1): 252–257. doi : 10.1245/s10434-020-08655-8 .
    MUC2, KRAS, TWIST1, GNAS, MUC5AC, TP53, SERPINA5, MAP2K7, PIK3CB, PIK3CD, PIK3CG, PIK3CA, CXCR6, MUC16, MAPK1, REG4, MAP2K1, PSG2, LPAR2, ACKR3, PTGS2, SSTR4, TOP2A, RNF43, SMUG1, VIM, TLE3, ADRA1A, ADRA2B, COX2, AKT1, ALK, APC, BRS3, CA2, CDH1, CDH2, CEACAM5, CEACAM3, CEACAM7, CTNNB1, EDNRA, EPHB2, FUT8, GPR42, HIF1A, JUN, EPCAM, MCL1, MTCO2P12
    • Pseudomyxoma Peritonei Orphanet
      Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. Epidemiology Annual incidence is estimated at 1/1,000,000 with female predominance. Clinical description The disease is usually diagnosed after the age of 40. In 30 to 50% of cases, patients present with progressive abdominal distension (so-called ``jelly belly''). Diagnosis may follow discovery of an ovarian mass in women or recent development of inguinal hernia, appendicitis or intestinal occlusion.
    • Pseudomyxoma Peritonei Gard
      Pseudomyxoma peritonei (PMP) is a rare disease characterized by the presence of mucin in the abdominal ( peritoneal ) cavity. While the most common cause of PMP is appendix cancer , several types of tumors (including non-cancerous tumors) can cause PMP. Signs and symptoms may include an increase in abdominal size or bloating; inguinal hernia (in men); an ovarian mass that may be felt during a routine pelvic exam (in women); pain or discomfort in the abdomen; and/or appendicitis . Treatment depends on the underlying cause of the condition (the location and type of the original tumor, including whether it is malignant ) and the extent of spreading. A combination of cytoreductive surgery and hyperthermic intraperitoneal chemotherapy is often the most successful treatment.
  • Hyperlexia Wikipedia
    "Word and nonword processing without meaning support in Korean-speaking children with and without hyperlexia" . Reading and Writing . 28 (2): 217–238. doi : 10.1007/s11145-014-9522-3 . ^ a b c Wong, W.; Weekes, B.; Iao, L.; To, K.; Su, I.
    • Hyperlexia Omim
      Silberberg and Silberberg (1967) defined the term 'hyperlexia' to describe children who read at levels beyond those expected for their mental age in the face of disordered oral communication. Turkeltaub et al. (2004) stated that there are 3 consistent features of hyperlexia: the presence of a developmental disorder of communication, most often an autistic spectrum disorder (209850); acquisition of reading skills prior to age 5 years without explicit instruction; and advanced word recognition ability relative to mental age, with reading comprehension on par with verbal ability. Among a group of 66 children with autism, Burd et al. (1985) identified 4 with hyperlexia. Burd and Kerbeshian (1988) described a brother and sister who began reading at about age 3 before receiving instruction and spent much time thereafter reading from encyclopedias, dictionaries, almanacs, and newspapers at ages 4 to 6. Both were thought to have 'pervasive developmental disorder,' which includes autism and Tourette syndrome (137580).
  • Splitting (Psychology) Wikipedia
    After Freud, "the most important contribution has come from Melanie Klein, whose work enlightens the idea of 'splitting of the object' ( Objektspaltung ) [28] (in terms of 'good/bad' objects)". [29] In her object relations theory, Klein argues that "the earliest experiences of the infant are split between wholly good ones with 'good' objects and wholly bad experiences with 'bad' objects", [30] as children struggle to integrate the two primary drives, love and hate, into constructive social interaction.
  • Salivary Gland Tumour Wikipedia
    . ^ a b "Salivary gland tumors: MedlinePlus Medical Encyclopedia" . medlineplus.gov . Retrieved 2019-10-28 . ^ "Salivary Gland Cancer" . MedicineNet . ^ Vaishali H Anand et al.
    DAPK1, CTNNB1, JAG1, GINS2, GAS2, GAS6, GUCY1A1, ISYNA1, SOX4, IGFBP2, ITGB4, KRT5, IRX4, KRT15, PCSK1N, ZIM2, MARCKS, RBFOX2, MLC1, SPEN, ESPL1, HOMER3, PDZK1, SERPINF1, PRKD1, TOP2A, PYGB, SOX11, ST3GAL4, DTL, SON, SLC24A3, EN1, EFHD1, BCL11A, AQP1, NETO2, CDH1, ASPM, VCAN, MARK2, CCND1, MIER2, WNT5B, FANCA, FAT1, STAG3L1, PLAG1, MLH1, MSH2, MSH6, ETV6, NTRK3, ERBB2, TP53, BCL2, WWOX, MUC17, STAT3, SOX10, C17orf97, TPM3, CKAP4, UVRAG, CXCR4, TP63, PDLIM7, STAG2, RASSF1, MUC3B, ACKR3, DDX43, KRT20, LEF1, PCNA, SDC1, HIF1A, GAGE5, GAGE4, GAGE1, FOLH1, FHIT, EWSR1, ENG, NQO1, CCR7, CDKN2A, CD6, BRAF, BAX, BAGE, ATF1, ALDH3A1, ALCAM, HGF, KRT7, CCL19, LEP, RPE65, PTGS2, PTEN, PPARG, PIK3CA, PGR, AKT1, NTRK1, NOTCH4, MYB, MUC6, MUC5AC, MUC3A, MDM2, MAGEA3, SMAD4, LGALS3, LINC01194
  • Defective Interfering Particle Wikipedia
    Examples of this type of defection can be found in tomato spotted wilt virus and Flock House virus. [28] [29] Snapbacks defections are when replicase transcribes part of one strand then uses this new strand as a template.
  • Abortion In Oregon Wikipedia
    That year, 30% of women in the state aged 15 – 44 lived in a county without an abortion clinic. [27] Statistics [ edit ] In the period between 1972 and 1974, there was only 0 recorded illegal abortion death in the state. [28] In 1990, 332,000 women in the state faced the risk of an unintended pregnancy. [24] In 2013, among white women aged 15–19, there were abortions 760, 60 abortions for black women aged 15–19, 140 abortions for Hispanic women aged 15–19, and 70 abortions for women of all other races. [29] In 2014, 63% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases. [30] In 2017, the state had an infant mortality rate of 5.4 deaths per 1,000 live births. [9] Number of reported abortions, abortion rate and percentage change in rate by geographic region and state in 1992, 1995 and 1996 [31] Census division and state Number Rate % change 1992–1996 1992 1995 1996 1992 1995 1996 US Total 1,528,930 1,363,690 1,365,730 25.9 22.9 22.9 –12 Pacific 368,040 290,520 288,190 38.7 30.5 30.1 –22 Alaska 2,370 1,990 2,040 16.5 14.2 14.6 –11 California 304,230 240,240 237,830 42.1 33.4 33 –22 Hawaii 12,190 7,510 6,930 46 29.3 27.3 –41 Oregon 16,060 15,590 15,050 23.9 22.6 21.6 –10 Washington 33,190 25,190 26,340 27.7 20.2 20.9 –24 Number, rate, and ratio of reported abortions, by reporting area of residence and occurrence and by percentage of abortions obtained by out-of-state residents, US CDC estimates Location Residence Occurrence % obtained by out-of-state residents Year Ref No.
  • Pituitary Hormone Deficiency, Combined, 2 Omim
    MRI showed a hyperplastic anterior pituitary. Thirteen of the 28 relatives examined had hypopituitarism.
    PROP1, SOX3, OTX2, GHRH, GNRH1, KISS1R, NR5A1, GNRHR, KISS1, CSHL1, POU1F1, TACR3, GLI2, FGFR1, FGF8, ZIC2, SIX3, PTCH1, SLC20A1, MAGEL2, SHH, SUFU, TDGF1, TGIF1, CDON, LHX3, DLL1, HESX1, PRL, FOXH1, GLI3, GAS1, KIAA0556, GH1, LHX4, NODAL, DISP1, IGF1, BRD2, GHRHR, POMC, FOXA2, PAG1, HHIP, PROK2, RBM28, SMPD3, WDR11, PCBP4, SLC15A4, PROKR2, MIR511, ATP7B, ROBO1, KMT2B, MSH2, CD1A, CREBBP, EIF4E, GHR, GHSR, MSH6, ANOS1, SERPINA1, KMT2D, PITX2, OPN1LW, BMP4, S100A1, S100B, HNF1A, VIM, MIR593
    • Non-Acquired Panhypopituitarism Orphanet
      A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.
    • Panhypopituitarism, X-Linked Omim
      A number sign (#) is used with this entry because some cases of X-linked panhypopituitarism are associated with duplications in the SOX3 gene (313430). X-linked mental retardation with pituitary deficiency (300123) is an allelic disorder with an overlapping phenotype. See also X-linked hypogammaglobulinemia and isolated growth hormone deficiency (307200) and autosomal panhypopituitarism (262600). Clinical Features Zipf et al. (1977) reported 2 pre-pubertal males with X-linked hypopituitarism and gonadotropin deficiency. Mental deficiency was not reported. Woods et al. (2005) reported 2 Finnish male maternal half sibs with X-linked hypopituitarism.
  • Shigellosis Wikipedia
    Individuals with acquired immune deficiency syndrome (AIDS) are more frequently infected with Shigella . [28] Shigellosis is a more common and serious condition in the developing world; fatality rates of shigellosis epidemics in developing countries can be 5–15%. [29] Orthodox Jewish communities (OJCs) are a known risk group for shigellosis; Shigella sonnei is cyclically epidemic in these communities in Israel , with sporadic outbreaks occurring elsewhere in among these communities.
    CYLD, DHFR, EMP1, MT1B, MTTP, SPR, TLR4, NT5C2, SUMF2, TNMD, MFT2
  • Lissencephaly 1 Omim
    Prominent perivascular spaces were seen in 23 (67.4%) cases and enlarged ventricles in 28 (73.7%). The degree of neuromotor impairment was in accordance with the severity of lissencephaly, with a high incidence of tetraplegia (61.1%).
    PAFAH1B1, DCX, EML1, MNT, DCHS1, KIF2A, LAMB1, FAT4, TUBG1, RMDN3, NAT10, SYBU, ALPP, ASRGL1, CRISPLD2, DBNL, RMDN2, ARX, RMDN1, CCL27, PDLIM3, SLC17A5, ATRNL1, ATHS, RAPGEF2, VLDLR, SLPI, OCRL, LLGL1, CCDC85C
    • Subcortical Band Heterotopia Orphanet
      A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.
    • Band Heterotopia Omim
      A number sign (#) is used with this entry because of evidence that band heterotopia (BH) is caused by homozygous or compound heterozygous mutation in the EML1 gene (602033) on chromosome 14q32. Clinical Features Kielar et al. (2014) reported a French family in which 3 brothers had severe developmental delay with intellectual disability. Two of the boys had refractory epilepsy, whereas the third boy had no history of seizures by age 8 years. More variable features included hypotonia, mild spasticity, sleep disturbances, and behavioral problems. Kielar et al. (2014) also reported an unrelated boy, born of consanguineous Moroccan parents, with macrocephaly, congenital hydrocephalus, severe psychomotor delay, and seizures.
    • Subcortical Band Heterotopia Gard
      Subcortical band heterotopia , also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene.
  • De Quervain Syndrome Wikipedia
    History [ edit ] From the original description of the illness in 1895 until the first description of corticosteroid injection by Jarrod Ismond in 1955, [24] it appears that the only treatment offered was surgery. [24] [25] [26] Since approximately 1972, the prevailing opinion has been that of McKenzie (1972) who suggested that corticosteroid injection was the first line of treatment and surgery should be reserved for unsuccessful injections. [27] Eponym [ edit ] It is named after the Swiss surgeon Fritz de Quervain who first identified it in 1895. [28] It should not be confused with de Quervain's thyroiditis , another condition named after the same person. [ citation needed ] Society and culture [ edit ] BlackBerry thumb is a neologism that refers to a form of repetitive strain injury (RSI) caused by the frequent use of the thumbs to press buttons on PDAs , smartphones , or other mobile devices .
    ESR2, IL17B, IL20
    • De Quervain Tenosynovitis Mayo_clinic
      Overview De Quervain tenosynovitis (dih-kwer-VAIN ten-oh-sine-oh-VIE-tis) is a painful condition affecting the tendons on the thumb side of the wrist. If you have de Quervain tenosynovitis, you will probably feel pain when you turn your wrist, grasp anything or make a fist. Although the exact cause of de Quervain tenosynovitis isn't known, any activity that relies on repetitive hand or wrist movement — such as working in the garden, playing golf or racket sports, or lifting a baby — can make it worse. Symptoms Symptoms of de Quervain tenosynovitis include: Pain near the base of the thumb Swelling near the base of the thumb Difficulty moving the thumb and wrist when doing something that involves grasping or pinching A "sticking" or "stop-and-go" sensation in the thumb when moving it If the condition goes too long without treatment, the pain may spread farther into the thumb or forearm or both. Moving the thumb and wrist may make the pain worse. When to see a doctor Consult your health care provider if you're still having problems with pain or function and you've already tried: Not using your affected thumb Applying cold to the affected area Using nonsteroidal anti-inflammatory drugs, such as ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) Causes De Quervain tenosynovitis affects the two tendons on the thumb side of the wrist.
  • Hand Eczema Wikipedia
    . ^ "Balsam of Peru contact allergy" . Dermnetnz.org. December 28, 2013 . Retrieved March 5, 2014 . ^ Fisher AA (2008).
    FLG, SPINK5, EGF, CXCL12, AQP10, SCIN, MARCHF1, VCAM1, TNF, PSMB9, EGFR, NHS, ITPR3, IL13, IL5, IL4, IL31
  • Neuropathy, Hereditary, With Liability To Pressure Palsies Omim
    Lopes et al. (1999) sequenced the crossover hotspot in 28 patients with CMT1A or HNPP. Rearrangements in 3 of 4 HNPP patients were of maternal origin, and 2 of 4 were intrachromosomal in nature.
    PMP22, MPZ, RNMT, PXMP2, GJB1, KIF1B, MAD2L1BP, LOC105943586, LITAF, AR, MFN2, EXOSC6, REEP1, LY96, RAI1, ENDOU, ARHGEF10, COX10, S100A10, MBP, GLB1, EGR2, LOC105943587
    • Hereditary Neuropathy With Liability To Pressure Palsies Gard
      Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder that affects peripheral nerves , causing the nerves to be highly sensitive to pressure. Symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity. While some people never realize they have the disorder, others experience prolonged disability. The most common problem sites involve nerves in the wrists, elbows, and knees; however, the fingers, shoulders, hands, feet, and scalp can also be affected. Symptoms associated with HNPP occur in episodes, due to pressure on any single peripheral nerve.
    • Hereditary Neuropathy With Liability To Pressure Palsies Medlineplus
      Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles and sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure, such as the pressure that occurs when carrying heavy grocery bags, leaning on an elbow, or sitting without changing position, particularly with crossed legs. These activities would not normally cause sensation problems in people without the disorder. Hereditary neuropathy with liability to pressure palsies is characterized by recurrent episodes of numbness, tingling, and loss of muscle function (palsy) in the region associated with the affected nerve, usually an arm, hand, leg, or foot.
    • Hereditary Neuropathy With Liability To Pressure Palsy Wikipedia
      Hereditary neuropathy with liability to pressure palsy Other names Tomaculous neuropathy Nerve with myelin sheath Specialty Neurology Symptoms Fibromyalgia [1] Causes Genetic (autosomal dominant mutation in the PMP22 gene) [2] Diagnostic method Family history, Electrophysiologic testing [3] Treatment Occupational therapist, ankle/wrist supports [4] Hereditary neuropathy with liability to pressure palsy ( HNPP ) is a peripheral neuropathy , a condition that affects the nerves . [1] Pressure on the nerves can cause tingling sensations, numbness , pain, weakness, muscle atrophy and even paralysis of the affected area. In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months. [1] [2] HNPP is caused by a mutation in the gene PMP22 , which makes peripheral myelin protein 22. This protein has a role in the maintenance of the myelin sheath that insulates nerves, resulting in insufficient conductivity in the nerves. HNPP is part of the group of hereditary motor and sensory neuropathy (HMSN) disorders and is linked to Charcot–Marie–Tooth disease (CMT). [5] Contents 1 Signs and symptoms 2 Causes 2.1 Molecular biology/genetics 3 Diagnosis 4 Treatment 5 Epidemiology 6 History 7 See also 8 References 9 Further reading 10 External links Signs and symptoms [ edit ] Symptoms and symptom onset vary; some individuals are diagnosed in childhood, others in adulthood, some report minor problems, whilst others experience severe discomfort and disability.
    • Hereditary Neuropathy With Liability To Pressure Palsies Orphanet
      A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people. Epidemiology Hereditary neuropathy with liability to pressure palsies (HNPP) actual prevalence is unknown due to under-diagnosis but estimates range between 1/50,000 -1/20,000 worldwide. In Finland, the prevalence is reported to be 1/6250. Clinical description Disease onset usually occurs in the 2nd to 3rd decade of life, but may present in childhood. Some patients are asymptomatic and never diagnosed. The most common presenting symptom is the sudden onset of focal sensory loss and muscle weakness in the distribution of a single nerve. In many cases, these acute focal symptoms are triggered by mechanical stresses to the nerve, such as compression, repetitive movement or stretching of the affected limbs.
    • Hereditary Neuropathy With Liability To Pressure Palsies Gene_reviews
      Summary Clinical characteristics. Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or multiple nerves. The most common initial manifestation is the acute onset of a non-painful focal sensory and motor neuropathy in a single nerve (mononeuropathy). The first attack usually occurs in the second or third decade but earlier onset is possible. Neuropathic pain is increasingly recognized as a common manifestation. Recovery from acute neuropathy is usually complete; when recovery is not complete, the resulting disability is mild.
  • Pseudoachondroplasia Omim
    For most patients referred with a diagnosis of PSACH, the diagnosis was confirmed and they were found to have a mutation in the COMP gene (27 of 28 patients). Jackson et al. (2012) concluded that the classic form of PSACH is relatively straightforward to diagnose, provided there is sufficient clinical and radiographic information.
    COMP, COL9A2, COL9A3, COL9A1, SCN8A, MATN3, ACAN, FGFR3, SPARC, P4HB, GLS, DCN, EPHA3, DMD, CANX, HAPLN1, COL10A1, COL2A1, MMRN1
    • Pseudoachondroplasia Gene_reviews
      Summary Clinical characteristics. Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.
    • Pseudoachondroplasia Wikipedia
      Inherited disorder of bone growth This article has an unclear citation style . The references used may be made clearer with a different or consistent style of citation and footnoting . ( September 2018 ) ( Learn how and when to remove this template message ) Pseudoachondroplasia Pseudoachondroplasia. Shoulders and Humeri. Note the dysplastic proximal humeral epiphyses, metaphyseal broadening, irregularity and metaphyseal line of ossification. These changes are collectively known as "rachitic-like changes". Lesions are bilateral and symmetrical. Specialty Medical genetics Pseudoachondroplasia is an inherited disorder of bone growth. [1] It is a genetic autosomal dominant disorder.
    • Pseudoachondroplasia Orphanet
      Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. Epidemiology Prevalence is estimated at around 1/60,000. Clinical description The disorder is usually discovered during the second year of life with the onset of slow growth and walking difficulties. The short stature becomes more prominent with age and the hands and feet appear short and wide. Joint laxity is a general feature, but predominantly affects the hands. Defective epiphyseal growth causes early arthrosis. The limb deformation is caused by metaphyseal lesions.
    • Pseudoachondroplasia Medlineplus
      Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder. All people with pseudoachondroplasia have short stature. The average height of adult males with this condition is 120 centimeters (3 feet, 11 inches), and the average height of adult females is 116 centimeters (3 feet, 9 inches). Individuals with pseudoachondroplasia are not unusually short at birth; by the age of two, their growth rate falls below the standard growth curve. Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease known as osteoarthritis; an unusually large range of joint movement (hyperextensibility ) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips.
    • Pseudoachondroplasia Gard
      Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain ( osteoarthritis ), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.
  • Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia Omim
    Protein lysates from individuals with ALS expressing TDP43 mutants showed accumulation of a smaller (approximately 28 kD) TDP43 protein product, mainly in a detergent-insoluble fraction.
    C9orf72, SOD1, PON1, ATXN2, FUS, TARDBP, TAF15, OPTN, SQSTM1, MATR3, TBK1, UNC13A, CHMP2B, NEK1, DAO, CFAP410, DCTN1, SIGMAR1, TREM2, CHCHD10, ANG, NEFH, UBQLN2, EPHA4, PFN1, HNRNPA1, VCP, VAPB, PRPH, SETX, HNRNPA2B1, PPARGC1A, DPP6, CCNF, ANXA11, GLT8D1, ERBB4, GLE1, FIG4, SCFD1, SLC1A2, EWSR1, PON2, PON3, GFAP, MOBP, TP53, ARHGEF28, PTGS2, SOD2, GSR, TNFRSF21, SLC6A1, CD40LG, PLA2G4A, CAMK1G, DBR1, GSTP1, ADARB1, CASP3, AQP4, C5AR1, C3, NEFM, KCNJ10, BCL2L1, ZNF106, KIF1B, MSTN, CASP9, PSMC4, PTPRZ1, RARA, EPG5, ALS2, CASP12, MAPT, IGF1R, IGF2R, TUBA4A, KIFAP3, KIF5A, TRPM7, SARM1, ATXN3, SPG11, PSEN1, TNIP1, SUSD2, MOB3B, DCDC2, HFE, CENPV, SUN3, CST3, DCTN4, ST3GAL3, GTF2H1, ICE1, GRN, CSF2, SUN2, GRIA2, CPNE4, LAMA3, LAMC2, PTBP1, STMN1, NUP62, STK36, MAK16, NUP98, NEFL, GABPA, SRRM2, RBMS3, NFE2L2, GRIP1, GDNF, ARAP2, APTX, SCN8A, NPEPPS, APP, KIAA0513, SMN1, ARHGEF2, WASHC5, SNURF, APOE, TIAM1, AR, NRXN1, TNF, IGFALS, KHDRBS1, IGF1, PNO1, VEGFA, BDNF, ACTB, BCL2, SNCA, SMN2, NME9, GTPBP1, CNTF, KIAA0040, PIGL, SNRPN, ADA, SIRT1, CCL2, GRM2, IL6, MAPK1, TIA1, CDK5, P2RX7, CHI3L1, GPNMB, RIPK1, MIR206, CHGB, CHIT1, P4HB, GRM5, PARP1, IL1B, HTT, TNFRSF1B, EPO, MIR338, LY6E, VGF, ABCB1, MCIDAS, GRM1, DECR1, APEX1, CYBB, PINK1, ZNF512B, XBP1, HCLS1, ADIPOQ, HGF, MMP9, LMNB1, ATG5, NGF, NRG1, SIGLEC7, GRIA1, TANK, DNM1L, KHSRP, FGF2, SS18L1, CSF3, TUSC2, IL2RB, PSIP1, HSPB1, RBM45, TCF3, RAN, CUX1, RNF19A, MAPK14, NLRP3, SMUG1, SFPQ, CASP1, AIF1, ZNF569, KEAP1, TPPP, MST1, CHCHD2, RNASE4, RBM8A, RREB1, MSC, TMEM189-UBE2V1, OXR1, TMEM189, CHGA, ATXN2-AS, RRM2, CX3CR1, ZNF629, ATF6, TMED9, CNR2, ASPM, ZNF253, NAIP, ELP3, LGALS3, HRES1, PPARG, UBE2V1, FMR1, ERN1, EPHB2, LCN2, HNRNPA1P10, HSF1, TTR, ASPA, ASIP, SEMA3A, VDAC1, ZNF763, A1CF, TLR4, CAT, CCS, THY1, ZNF436, HSPA4, ROPN1L, NIPA1, EDN1, CDK5R1, TGM2, TNPO1, CASZ1, CXCL8, RTN4, LGALS1, RNASEL, TMEM106B, S100A6, SLC1A1, SOX2, STAT3, TFAM, TGFB1, SUMO1, AHSA1, SLC35A1, VRK1, CLEC10A, AIMP2, ELP1, HNRNPDL, VAPA, GRAP2, S100B, RRM1, VPS54, RNASE1, MSMB, FIS1, COX2, FOXP3, NOS1, NOS2, NTF3, P2RX4, HSPB8, PIN1, POLDIP2, PTPA, MAP2K5, PRNP, RAG2, IL4, GAL3ST1, CRK, AGER, HNRNPH2, ADAR, HNRNPC, CRP, EGFR, ADCYAP1, LMLN, MIR155, PRMT1, SUGP1, ANPEP, HNRNPH1, MTOR, CST12P, FXN, C19orf12, PDIA3, CTNNB1, GAPDH, TMPRSS13, CYP27A1, HIF1A, CS, LRRK2, IFNG, ALAD, DES, CP, CCL27, FCGR3A, PPIA, PHGDH, SLC52A3, FCGR3B, CFDP1, NEAT1, SPAG11B, ATRNL1, SLC30A3, ATM, PRRT2, SYT1, FMO1, CST7, GAP43, PDLIM3, GSTK1, SIRT2, XIAP, DENR, CAV1, SLPI, CAST, TFEB, FN1, CCR2, PRKN, APRT, STMN2, TLR2, TFPI2, ATHS, PDC, MAPK8, CREBBP, UCHL1, MOK, NOP56, SLCO6A1, RANBP2, ATG7, DNMT1, RASGRF1, UCP2, RELA, TSPO, PRKCA, TXN, CTBS, SIRT3, RRAD, TTN, CTF1, ATP13A2, TRPM2, ATXN1, RAB5A, DAPK2, PVALB, UTRN, PRKCB, XBP1P1, FBXO32, SPAG11A, BECN1, RAB3GAP2, WNT5A, EPHA3, EPHA1, VSNL1, CRMP1, VIM, EIF4G2, PSMD2, SGCG, VDR, PTGER2, TNFRSF1A, EGF, HPGDS, GARS1, TSHZ1, MAOB, SNPH, HDAC4, SRR, NAT10, SPAST, LIG4, LRP4, MIR146A, HMOX1, HMGB1, LSM2, MAP2, SIL1, GORASP1, PDIA2, MTHFSD, NPY, ERVK-12, SOX9, ERVK-2, LEP, ERVK-11, MFAP1, MTCO2P12, GJD2, IL10, RIPK3, DDX20, ABL1, SLC17A6, STAT5A, PCYT1B, IGF2, CTR9, FGGY, TDP1, CCDC88A, HDAC9, ABCG2, MFN1, KDR, TEAD1, RHOT1, DNAJB2, MET, ERVK-22, KITLG, CHAF1A, LINC01672, CHI3L2, UBQLN1, MALAT1, FNDC3A, GLS, PADI1, ASRGL1, NRP1, CLU, GH1, SNAP25, RAB11A, DBNL, NFKB1, ALYREF, MIR1825, CCN2, NOTCH1, KCNIP3, HSP90B2P, PIK3R4, ARHGEF7, ALB, GEMIN4, ALPP, SOS1, HDAC6, ALS3, DERL1, WNK1, AKT1, GPX3, HDAC1, MTHFR, SLC25A37, AKT3, PNPLA6, LILRA2, MIR193A, RBBP9, PAPOLA, NES, YWHAQ, ARPP21, MIR29B1, MIR93, JTB, MIR29B2, MRPS30, MIR143, MIR23A, MIR15A, MIR183, ERGIC1, OGA, P2RX5-TAX1BP3, OLIG2, EBI3, NAMPT, MIR4299, PPIF, ABCC9, SH2B3, OCLN, FGFBP1, MFN2, MIR4649, CALCOCO2, PINK1-AS, LZTS3, ELDR, TPTEP2-CSNK1E, GDA, CREB5, H3P13, CCL4L2, PTGES, BAG3, GDF11, GLYAT, TSBP1, LOC643387, MIR17HG, MIR326, MIR375, ERLIN1, MIR378A, MIR494, MIR193B, MIR524, ZNF704, POU5F1P3, POU5F1P4, RAMP3, CARM1, UNC13B, MIR582, OLFM1, RACK1, TUBA1B, MIR638, LANCL1, STUB1, MIR1246, POTEF, CLEC4C, MIR142, NOP53, SRCIN1, RUBCNL, IFT74, UBN1, ATAT1, DHDDS, SLC40A1, FLVCR1, KCNIP1, ASAP1, GGNBP2, ASCC1, HDAC11, ATL1, ARHGAP24, REM1, MIR139, TTBK1, PABPC1, CYFIP2, NOX1, ATAD1, ANKRD1, CACYBP, AGO2, HTRA2, HCAR1, TUBGCP4, BTBD10, COQ2, POLDIP3, EIF3K, GEMIN6, MMP28, NMD3, NLN, FAM160B1, SLC30A6, MAGEE1, NGLY1, KCNT1, ZKSCAN7, PRMT8, APH1A, LXN, FAM20C, NUP107, SLC12A5, NDRG2, MCOLN1, SAGE1, HAMP, NGB, WDR41, RMDN3, MTPAP, COP1, WIPI1, XRN1, P2RY12, DCUN1D1, IL23A, SIRT6, BCL11B, IGF2-AS, ACD, CUEDC2, BSCL2, AATF, WNT3A, CAMTA1, HCA1, NUP205, ATG4B, MLC1, PLCB1, ALS2CL, MGRN1, TICAM1, BICD2, SPDYA, HNRNPA3, MED19, FLCN, SIRT5, WDTC1, MIF-AS1, TAAR6, MYH15, P2RX2, GADL1, TGM6, ERCC6L2, KMT5A, ATG14, CCL4L1, AAK1, MGLL, MIRLET7B, PDAP1, MIR126, PARK7, JPH3, TTBK2, FGF21, GLCE, GRIN3B, NT5C3B, CARD16, AZIN2, L3MBTL1, OSBPL3, EGLN3, SYT9, DNER, NOC2L, MTDH, MCU, SPAG8, ANKRD2, THEM4, PANX1, ZFYVE27, TFIP11, PPIL2, SLC7A11, PPP1R15A, TPH2, CD2AP, JDP2, PDSS1, DDX58, PPARGC1B, PADI4, TRIM69, CABIN1, SMCR8, A1BG, SUMO2, GDF15, GHR, GJB1, GCLM, GLUL, CXCR3, GPX7, GRIA3, GRIA4, GRIK1, GRIN2A, GRM3, CXCL1, GSK3B, HADHA, HDAC2, HEXA, HK1, HLA-B, MNX1, HLA-DRB1, HLA-DRB5, HLA-F, GJA1, GFRA1, ADAMTS3, GEM, ESR1, ESR2, ETS2, EZH2, F9, PTK2B, FGF1, FGF13, FKBP4, FKBP5, FMO3, AFF2, FPR2, FRAXE, FTH1, FTL, FZD2, GBA, GBAP1, GC, GCG, HMOX2, HNMT, HNRNPK, HP, ITGB2, ITPR1, ITPR2, ITPR3, JAG2, JAK3, KCNJ8, KCNJ11, KCNK2, KIF5B, KIR3DL1, LAMC1, LGALS2, LGALS4, LIF, FADS3, LTBR, LUM, SH2D1A, MARCKS, MAP1B, ISG20, IRF3, IRF1, IFRD1, HPGD, AGFG1, HES1, HSPA8, HSPB2, DNAJB1, HTC2, ID2, IFNGR1, IGFBP5, INPP5B, IGFBP7, IL1A, IL2, IL2RA, IL13, IL15, IL17A, IL18, CXCL10, EREG, EPHB1, ENG, CD36, BAG1, BAX, BBS2, CCND1, BMP4, BNIP1, BNIP3L, BRCA1, CACNA1A, CACNA1S, CALB1, CALB2, CALR, CAMK4, CAPG, CAPN1, CAPN2, CASR, CBR1, CBS, CD14, ATP7A, ATP5F1A, ARG1, ADH5, AOC1, ACAT2, ACHE, ACP3, ACTA1, ACTN3, ACY1, ADARB2, ADCYAP1R1, JAG1, FAS, AHR, AK4, ALOX5, ALOX15, AMPH, ANGPT1, APCS, APOA1, APOB, CD34, CD40, ELAVL4, CD59, CTSL, CYP1A1, CYP1A2, CYP2D6, CYP19A1, ACE, DCX, DDIT3, DDX3X, DHFR, DLD, DMD, DYNC1H1, DNMT3A, DPYD, DPYSL2, EFNA5, EFNB1, CELSR3, EGR1, ELAVL1, CTSD, CSNK1E, CSNK1D, TBCB, CD68, CDK2, CDK9, CDKN2A, CDKN2D, CEBPD, CTSC, CEACAM4, CHRNG, ABCC2, CRYM, CNR1, CNTFR, COL4A2, COL11A2, COL19A1, CORD1, MAP3K8, COX8A, CREB1, MB, MBP, MC4R, RNF112, TAT, TGFB2, TIMP1, TIMP2, TIMP3, CLDN5, TP73, TPO, NR2C2, TRN-GTT2-1, DNAJC7, UBC, UBE2H, UCP1, UCP3, SCGB1A1, UGCG, XDH, XPO1, XRCC1, XRCC5, MAP3K7, TACR1, TAC1, SOAT1, SHBG, SHH, SI, SLC1A3, SLC8A3, SLC12A2, SLC12A4, SUMO3, SERPINA3, SOD3, SYP, SOX5, SOX10, SPP1, SREBF1, SST, SULT1E1, STXBP1, SUPT4H1, ABCC8, YWHAZ, TUBA1A, SEL1L, CXCR4, MGAM, HSPB3, SELENBP1, UNC119, INA, P2RX6, SLC33A1, XPR1, KLF4, ZNHIT3, CD163, LONP1, KL, CHST2, GSTO1, MAP4K4, EIF2AK3, HOMER1, PICK1, ROCK2, ADAMTS4, RAB29, BCL10, CACNA1H, DYNLL1, SCG2, PABPN1, CDC7, GEMIN2, MAP4K3, PPM1D, FCN3, BLZF1, LGR5, TNKS, SYNJ2, DGAT1, TNFSF14, TNFRSF10B, IL18R1, PROM1, ASAP2, ALDH1A2, NR1I2, SYNJ1, SGK1, CX3CL1, DNAJB9, P2RY2, MYOD1, NAP1L1, CEACAM6, NCAM1, NEDD8, NEUROG1, NFIL3, NGFR, NONO, SLC11A2, NRF1, NRGN, NTF4, NTRK1, NTRK2, NTRK3, OPA1, OSBP, P2RX1, P2RX3, P2RX5, MYO6, MYH9, MYH6, MMP14, MDH1, MECP2, MEF2A, MEF2C, MAP3K5, MICE, MIF, MIP, MMP7, MPZ, MYC, MRC1, MS, MT1A, MT1B, ATP6, NUDT1, ND5, MUSK, MYBPH, P2RY1, PAH, CCL18, REG3A, PTPRN, PURA, RAB1A, RANGAP1, RBP4, REG1A, UPF1, REST, RET, TRIM27, ROS1, RPS17, RPS25, RPS27A, SORT1, S100A4, S100A8, S100A9, SCD, SCNN1A, CCL4, PTGER3, PTEN, PTAFR, PLEC, PAWR, PCBP1, PCSK2, SERPINF1, PFN2, PGK1, PHB, SERPINA1, PLCD1, PLP1, PSMA7, PLXNA2, POMC, POU5F1, PPID, PKN1, MAPK3, MAPK9, EIF2AK2, PSAP, H3P40
    • Amyotrophic Lateral Sclerosis Gard
      Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS that are distinguished by symptoms and, in some cases, genetic cause. Early symptoms may include muscle twitching, cramping, stiffness, or weakness, slurred speech, and/or difficulty chewing or swallowing. As the disease progresses, people become weaker and are eventually wheelchair-dependent. Death often results from respiratory failure within 2 to 10 years after the symptoms begin.
    • Amyotrophic Lateral Sclerosis 23 Omim
      A number sign (#) is used with this entry because of evidence that amyotrophic lateral sclerosis-23 (ALS23) is caused by heterozygous mutation in the ANXA11 gene (602572) on chromosome 10q22. For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). Clinical Features Smith et al. (2017) reported 10 patients from 7 unrelated families with familial ALS and 3 unrelated patients with sporadic ALS associated with ANXA11 mutations. The patients had late onset (range, 50 to 83 years; average, 67 years) of classic ALS disease symptoms without dementia, and both bulbar and limb onset occurred. Postmortem examination of 1 patient showed marked neuronal loss within the anterior horn of the spinal cord and myelin pallor and astrogliosis in the anterior and lateral corticospinal tracts.
    • Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 3 Omim
      A number sign (#) is used with this entry because of evidence that frontotemporal dementia and/or amyotrophic lateral sclerosis-3 (FTDALS3) is caused by heterozygous mutation in the SQSTM1 gene (601530) on chromosome 5q35. Heterozygous mutation in the SQSTM1 gene can also cause Paget disease of bone (PDB3; 167250). Description Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014). For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).
    • Amyotrophic Lateral Sclerosis 7 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). Mapping Sapp et al. (2003) performed a genetic linkage screen in 16 U.S. pedigrees with familial ALS and no evidence for mutations in the SOD1 gene (147450). In 1 of the 16 families, they identified a novel ALS locus, designated ALS7, spanning a 6.25-cM (1-Mb) region on chromosome 20p. A multipoint lod score calculated for this family had a peak value of 3.46 at D20S103. In another family, Sapp et al. (2003) identified a novel ALS locus on chromosome 16 (ALS6; 608030).
    • Amyotrophic Lateral Sclerosis 17 Omim
      A number sign (#) is used with this entry because amyotrophic lateral sclerosis-17 (ALS17) is caused by heterozygous mutation in the CHMP2B gene (609512) on chromosome 3p. Mutation in the CHMP2B gene can also cause frontotemporal dementia (FTD3; 600795). Description ALS17 is an adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency (summary by Cox et al., 2010). Clinical Features Parkinson et al. (2006) reported a 75-year-old man with rapidly progressive ALS. At age 74 years, the patient developed bulbar-onset weakness with flaccid dysarthria and tongue fasciculations.
    • Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia Omim
      A number sign (#) is used with this entry because amyotrophic lateral sclerosis-14 with or without frontotemporal dementia (ALS14) is caused by heterozygous mutation in the VCP gene (601023) on chromosome 9p13. Description Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic TDP43 (TARDBP; 605078) aggregates. Patients with ALS14 may develop frontotemporal dementia (FTD) (summary by Johnson et al., 2010). See inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD; 167320), which is also caused by mutation in the VCP gene and shows some overlapping features.
    • Amyotrophic Lateral Sclerosis 8 Omim
      A number sign (#) is used with this entry because of evidence that ALS8 is caused by heterozygous mutation in the VAPB gene (605704) on chromosome 20q13.3. For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). Clinical Features Nishimura et al. (2004) described a Caucasian Brazilian family in which 26 members spanning 3 generations presented with clinical and neurologic signs compatible with the diagnosis of ALS with slow progression. The disorder affected both sexes equally, with no evidence of clinical anticipation. Clinical onset occurred between ages 31 and 45 years, and the cause of death was respiratory failure.
    • Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia Omim
      A number sign (#) is used with this entry because amyotrophic lateral sclerosis-15 with or without frontotemporal dementia (ALS15) is caused by mutation in the UBQLN2 gene (300264) on chromosome Xp11. For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). Clinical Features Deng et al. (2011) identified a 5-generation family with ALS15 including 19 affected individuals. The disease was transmitted in a dominant fashion with reduced penetrance in females. Deng et al. (2011) also identified 4 other unrelated families with ALS15 and obtained clinical data from a total of 40 individuals, including 35 patients and 5 obligate carriers.
    • Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia Omim
      A number sign (#) is used with this entry because of evidence that amyotrophic lateral sclerosis-22 with or without frontotemporal dementia (ALS22) is caused by heterozygous mutation in the TUBA4A gene (191110) on chromosome 2q35. For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). Clinical Features In their study of familial ALS caused by mutations in the TUBA4A gene, Smith et al. (2014) found that all patients carrying TUBA4A mutations had spinal-onset classical ALS with upper and lower motor neuron signs. Two cases also developed a cognitive decline of frontal type, consistent with a diagnosis of frontotemporal dementia (FTD; 600274), and another had a first-degree relative with FTD. Molecular Genetics Smith et al. (2014) performed an exomewide rare variant burden analysis in 363 index cases with familial ALS (FALS) from 6 countries.
    • Amyotrophic Lateral Sclerosis With Polyglucosan Bodies Omim
      Orthner et al. (1973) reported 2 sisters with onset of ALS at 38 and 39 years of age, and death after 14 and 26 months, respectively. Weakness began in the arms and later involved the legs. Bulbar signs and symptoms followed. Autopsy showed marked loss of motor neurons. Polyglucosan bodies were found in perikarya in the cortex and cerebellum. Barz et al. (1976) reported 2 sporadic cases. Muscle - Distal weakness in arms then legs - Progressive atrophy Neuro - Bulbar signs - Motor neuron loss Lab - Polyglucosan bodies in perikarya, cortex and cerebellum Inheritance - Autosomal recessive ▲ Close
    • Amyotrophic Lateral Sclerosis 12 Omim
      A number sign (#) is used with this entry because of evidence that amyotrophic lateral sclerosis-12 (ALS12) is caused by homozygous or heterozygous mutation in the optineurin gene (OPTN; 602432) on chromosome 10p13. Primary open angle glaucoma-1E (POAG; see 137760) is an allelic disorder caused by distinct missense mutations and segregating in an autosomal dominant manner. For a general phenotypic description and discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). Clinical Features Of 6 Japanese individuals from consanguineous marriages who had ALS, Maruyama et al. (2010) identified 3 with mutations in the OPTN gene. Two were sibs. One member of the sib pair developed muscle weakness of her left arm at 33 years of age that progressed to dysphagia requiring endotracheal intubation.
    • Amyotrophic Lateral Sclerosis 11 Omim
      A number sign (#) is used with this entry because this form of autosomal dominant ALS is caused by mutation in the FIG4 gene (609390). Autosomal recessive Charcot-Marie Tooth disease type 4J (CMT4J; 611228) is an allelic disorder with a much more severe phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). Clinical Features Chow et al. (2009) reported 5 unrelated patients diagnosed with probable or definite ALS. Two had a family history of the disorder. All had adult onset and showed prominent corticospinal tract findings.
    • Amyotrophic Lateral Sclerosis Wikipedia
      Amyotrophic lateral sclerosis (ALS) Other names Lou Gehrig's disease; Charcot's disease; motor neurone disease (MND) [1] An MRI of the brain with increased T2 signal in the posterior part of the internal capsule that can be tracked to the motor cortex , consistent with the diagnosis of ALS Specialty Neurology Symptoms Early : Stiff muscles , muscle twitches , gradual increasing weakness [2] Later : Difficulty in speaking , swallowing , and breathing ; respiratory failure [2] Usual onset 50s–60s [3] Causes Unknown (most), inherited (few) Diagnostic method Suspected as based on symptoms and supported by MRI [2] Treatment Non-invasive ventilation [4] Medication Riluzole , edaravone [5] [6] Prognosis Life expectancy 2–4 years [4] Frequency 2.6/100,000 per year (Europe) [7] Amyotrophic lateral sclerosis ( ALS ): also known as Lou Gehrig's disease in Canada and the United States , as motor neurone disease ( MND ) in Australia , Ireland , New Zealand , South Africa , and the United Kingdom , and Charcot disease in francophone countries ; is a neurodegenerative neuromuscular disease that results in the progressive loss of motor neurons that control voluntary muscles . [2] [8] [9] ALS is the most common type of motor neuron disease . [10] [11] Early symptoms of ALS include stiff muscles , muscle twitches , and gradual increasing weakness and muscle wasting . [2] It may begin with weakness in the arms or legs, when it is known as limb-onset , or with difficulty in speaking or swallowing , when it is known as bulbar-onset . [2] [12] About half of the people affected develop at least mild difficulties with thinking and behavior and most people experience pain . [13] [14] The affected muscles are responsible for chewing food, speaking, and walking. [2] Motor neuron loss continues until the ability to eat, speak, move, and finally breathe is lost. [2] ALS eventually causes paralysis and early death, usually from respiratory failure . [15] Most cases of ALS (about 90% to 95%) have no known cause, and are known as sporadic ALS . [2] [16] However both genetic and environmental factors are believed to be involved. [17] The remaining 5% to 10% of cases have a genetic cause linked to a history of the disease in the family , and these are known as familial ALS . [16] [3] About half of these genetic cases are due to one of two specific genes . [2] The underlying mechanism involves damage to both upper and lower motor neurons . [2] The diagnosis is based on a person's signs and symptoms , with testing done to rule out other potential causes. [2] There is no cure for ALS, and treatment is targeted at improving the symptoms. [8] A medication called riluzole may extend life by about two to three months. [5] Non-invasive ventilation may result in both improved quality and length of life. [4] Mechanical ventilation can prolong survival but does not stop disease progression. [18] A feeding tube may help. [19] The disease can affect people of any age, but usually starts around the age of 60 and in inherited cases around the age of 50. [3] The average survival from onset to death is two to four years, though this can vary, and about 10% survive longer than 10 years, [4] [20] [2] and death is usually due to respiratory failure. [3] In Europe, the disease affects about two to three people per 100,000 per year. [7] Rates in much of the world are unclear. [21] In the United States, it is more common in white people than black people . [22] Descriptions of the disease date back to at least 1824 by Charles Bell . [23] In 1869, the connection between the symptoms and the underlying neurological problems was first described by Jean-Martin Charcot , who in 1874 began using the term amyotrophic lateral sclerosis . [23] It became well known in the United States in the 20th century when in 1939 it affected baseball player Lou Gehrig and later worldwide following the 1963 diagnosis of cosmologist Stephen Hawking . [24] [25] The first ALS gene was discovered in 1993 while the first animal model was developed in 1994. [26] [27] In 2014, videos of the Ice Bucket Challenge went viral on the Internet and increased public awareness of the condition. [28] Contents 1 Classification 1.1 Classical ALS, PLS, and PMA 1.2 Regional variants 1.3 Age of onset 2 Signs and symptoms 2.1 Initial symptoms 2.2 Progression 2.3 Late stages 3 Cause 3.1 Genetics 3.2 Environmental factors 3.2.1 Head injury 3.2.2 Physical activity 3.2.3 Sports 3.2.4 Smoking 4 Pathophysiology 4.1 Neuropathology 4.2 Biochemistry 5 Diagnosis 5.1 Diagnostic criteria 5.2 Differential diagnosis 6 Management 6.1 Medications 6.2 Breathing support 6.2.1 Non-invasive ventilation 6.2.2 Invasive ventilation 6.3 Therapy 6.4 Nutrition 6.5 End-of-life care 7 Epidemiology 8 History 8.1 Diagnostic criteria 8.2 Name 9 Society and culture 10 Research 10.1 Model organisms 10.2 Treatments 10.3 Cause 11 See also 12 Notes 13 References 14 External links Classification [ edit ] ALS is a motor neuron disease , also spelled "motor neurone disease", which is a group of neurological disorders that selectively affect motor neurons , the cells that control voluntary muscles of the body. [2] Other motor neuron diseases include primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), progressive bulbar palsy , pseudobulbar palsy , and monomelic amyotrophy (MMA). [29] ALS itself can be classified in a few different ways: by how fast the disease progresses which is related to the age of onset; by whether it is familial or sporadic, and by the region first affected. [2] In about 25% of cases, muscles in the face, mouth, and throat are affected first because motor neurons in the part of the brainstem called the medulla oblongata (formerly called the "bulb") start to die first along with lower motor neurons.
    • Amyotrophic Lateral Sclerosis 18 Omim
      A number sign (#) is used with this entry because amyotrophic lateral sclerosis-18 (ALS18) is caused by heterozygous mutation in the PFN1 gene (176610) on chromosome 17p. For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). Clinical Features Among 22 cases of ALS that resulted from mutations in PFN1 (ALS18), all displayed limb onset. Given that bulbar onset represents approximately 25% of ALS cases, Wu et al. (2012) proposed that their observation suggests a common clinical phenotype among patients with PFN1 mutations. The age of onset for familial ALS18 cases was 44.8 +/- 7.4 years. Mapping Wu et al. (2012) performed exome capture followed by deep sequencing on 2 large ALS families of Caucasian (family 1) and Sephardic Jewish (family 2) origin.
    • Amyotrophic Lateral Sclerosis 19 Omim
      A number sign (#) is used with this entry because amyotrophic lateral sclerosis-19 (ALS19) is caused by heterozygous mutation in the ERBB4 gene (600543) on chromosome 2q34. For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). Clinical Features Takahashi et al. (2013) reported 3 Japanese sibs with onset of classic ALS between 60 and 70 years of age. They had relatively slowly progressive upper and lower motor neuron involvement without cognitive impairment. Two patients became ventilator-dependent and all 3 developed the locked-in state.
    • Amyotrophic Lateral Sclerosis 9 Omim
      A number sign (#) is used with this entry because of evidence that amyotrophic lateral sclerosis-9 (ALS9) is caused by heterozygous mutation in the angiogenin gene (ANG; 105850) on chromosome 14q11. For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). Clinical Features Van Es et al. (2009) reported a 4-generation family with autosomal dominant ALS due to ANG mutation. Affected individuals had classic signs of the disorder, including progressive upper and lower motor neuron loss affecting the limbs, but 1 patient presented with parkinsonism and later developed signs of frontotemporal dementia. One obligate carrier did not develop the disease by age 75, indicating incomplete penetrance.
    • Amyotrophic Lateral Sclerosis 1 Omim
      In a prospective randomized control trial of 44 ALS patients, Fornai et al. (2008) reported that treatment of 16 patients with lithium plus riluzole resulted in slower disease progression compared to 28 patients treated with riluzole alone.
    • Amyotrophic Lateral Sclerosis Orphanet
      A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Epidemiology Incidence (average around 1/50,000 per year) and prevalence (average around 1/20,000) are relatively uniform in Western countries, although foci of higher frequency have been reported in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male preponderance (male to female ratio of around 1.5:1). Clinical description Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset) and present with symptoms related to focal muscle weakness and wasting, in which onset of symptoms may start either distally or proximally in the upper and lower limbs. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait.
    • Amyotrophic Lateral Sclerosis 21 Omim
      A number sign (#) is used with this entry because amyotrophic lateral sclerosis-21 (ALS21) is caused by heterozygous mutation in the matrin-3 gene (MATR3; 164015) on chromosome 5q31. Description Amyotrophic lateral sclerosis-21 is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by Johnson et al., 2014). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). Clinical Features Feit et al. (1998) described a large American family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscles.
    • Amyotrophic Lateral Sclerosis 20 Omim
      A number sign (#) is used with this entry because amyotrophic lateral sclerosis-20 (ALS20) is caused by heterozygous mutation in the HNRNPA1 gene (164017) on chromosome 12q13. Mutation in the HNRNPA1 also causes a multisystem proteinopathy (IBMPFD3; 615424). For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). Molecular Genetics Kim et al. (2013) screened 212 familial ALS cases for sequence variants in the HNRNPA2B1 (600124) or HNRNPA1 (164017) genes. They identified 1 dominantly inherited case in which known ALS genes had been excluded with mutation in the HNRNPA1 gene (164017.0002).
    • Amyotrophic Lateral Sclerosis Overview Gene_reviews
      Summary The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of amyotrophic lateral sclerosis (ALS) and related genetic counseling issues. The following are the goals of this overview: Goal 1. Describe the clinical characteristics of ALS. Goal 2. Review genetic causes of ALS. Goal 3. Provide an evaluation strategy to identify the genetic cause of ALS in a proband (when possible). Goal 4. Inform genetic counseling of family members of an individual with ALS. Goal 5. Provide a high-level view of management of ALS. Diagnosis Clinical Characteristics Differential Diagnosis Management
    • Amyotrophic Lateral Sclerosis, Susceptibility To, 24 Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to amyotrophic lateral sclerosis-24 (ALS24) is conferred by heterozygous mutation in the NEK1 gene (604588) on chromosome 4q33. For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). Clinical Features Brenner et al. (2016) reported 3 patients with amyotrophic lateral sclerosis with truncating mutations in the NEK1 gene. The first patient presented at age 54 with upper and lower motor neuron signs in the left arm. Symptoms spread to the leg and right side, and within 2 years bulbar signs had developed.
    • Amyotrophic Lateral Sclerosis 3 Omim
      Description ALS is a degenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure usually within 3 to 5 years of symptom onset (Brown, 1995). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). Mapping Hand et al. (2002) performed a genome scan in a large European family (pedigree Fr017) in which at least 20 members had autosomal dominant, adult-onset ALS unlinked to chromosome 21. They found linkage of the disorder in this family to chromosome 18q21 (maximum lod score of 4.5) within a 7.5-cM, 8-Mb region flanked by markers D18S846 and D18S1109. The authors stated that the familial ALS locus on chromosome 18 represents the most common form of familial ALS.
    • Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia Omim
      A number sign (#) is used with this entry because amyotrophic lateral sclerosis-6 with or without frontotemporal dementia (ALS6) is caused by heterozygous mutation in the FUS gene (137070) on chromosome 16p11.2. Homozygous mutation in the FUS gene was found in one family with ALS6. Heterozygous mutation in the FUS gene can also cause hereditary essential tremor-4 (ETM4; 614782). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). For a phenotypic description and a discussion of genetic heterogeneity of frontotemporal dementia, see FTD (600274).
  • Hypomyelination And Congenital Cataract Gene_reviews
    Hypomyelination and Congenital Cataract: Frequency of Select Features View in own window Feature Proportion of Persons w/Feature Comment Bilateral congenital cataracts 26/30 Developmental delay 30/30 Intellectual disability 30/30 Dysarthria 26/26 Truncal hypotonia 26/26 Brisk tendon reflexes & bilateral extensor plantar responses 30/30 Cerebellar signs 11/25 Truncal titubation, intention tremor Peripheral neuropathy 22/24 Muscle weakness, muscle wasting of the legs Seizures 4/28 Seizures may be prolonged & w/fever.
    FAM126A
    • Hypomyelination And Congenital Cataract Gard
      Hypomyelination and congenital cataract is a very rare disease characterized by cloudy coverings of the eye that are present at birth ( congenital cataracts ) and neurologic impairment that becomes apparent after the first year of life. The neurologic impairment is progressive and presents as ataxia and spasticity. Affected individuals may lose the ability to walk. Signs and symptoms may vary but can include loss of sensation in the hands and feet (peripheral neuropathy), curvature of the spine (scoliosis), difficulty speaking (dysarthria), seizures, and moderate intellectual disability. Hypomyelination and congenital cataract is caused by a change (mutation ) in the FAM126A gene and is inherited in an autosomal recessive manner. Diagnosis of hypomyelination and congenital cataract is based on clinical findings of muscle weakness and cataracts, and a brain MRI that indicates a loss of the myelin surrounding the neurons .
    • Hypomyelination And Congenital Cataract Medlineplus
      Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses.
    • Leukodystrophy, Hypomyelinating, 5 Omim
      A number sign (#) is used with this entry because of evidence that hypomyelinating leukodystrophy-5 (HLD5), also known as hypomyelination and congenital cataract (HCC), is caused by homozygous mutation in the FAM126A gene (610531) on chromosome 7p15. For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. Clinical Features Zara et al. (2006) identified 10 individuals from 5 families with a disorder characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency as shown by brain magnetic resonance imaging (MRI). All individuals presented with bilateral cataract at birth or in the first 2 months of life and underwent ocular surgery. Initial psychomotor development was normal. At the end of the first year of life, development was delayed in all individuals.
    • Hypomyelination-Congenital Cataract Syndrome Orphanet
      Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit. Epidemiology The syndrome has been described in 10 children from five different families. Clinical description Progressive weakness of the muscles in the lower limbs was also reported. Etiology The progressive neurological degeneration is caused by hypomyelination of the central and peripheral nervous systems. The syndrome is caused by mutations in hyccin, a recently identified nuclear membrane protein encoded by the FAM126A gene (7p15.3).
  • Body Dysmorphic Disorder Wikipedia
    The term refers to individuals seeking plastic surgeries to mimic “filtered” pictures. [21] Filtered photos, such as those on Instagram and Snapchat , often present unrealistic and unattainable looks that may be a causal factor in triggering BDD. [ citation needed ] Diagnosis [ edit ] Estimates of prevalence and gender distribution have varied widely via discrepancies in diagnosis and reporting. [1] In American psychiatry, BDD gained diagnostic criteria in the DSM-IV , but clinicians' knowledge of it, especially among general practitioners , is constricted. [22] Meanwhile, shame about having the bodily concern, and fear of the stigma of vanity, makes many hide even having the concern. [2] [23] Via shared symptoms, BDD is commonly misdiagnosed as social anxiety disorder, obsessive-compulsive disorder, major depressive disorder , or social phobia. [24] [25] Correct diagnosis can depend on specialized questioning and correlation with emotional distress or social dysfunction. [26] Estimates place the Body Dysmorphic Disorder Questionnaire's sensitivity at 100% (0% false negatives ) and specificity at 92.5% (7.5% false positives ). [27] Treatment [ edit ] Anti-depressant medication, such as selective serotonin reuptake inhibitors (SSRIs), and cognitive-behavioral therapy (CBT) are considered effective. [5] [28] [29] SSRIs can help relieve obsessive-compulsive and delusional traits, while cognitive-behavioral therapy can help patients recognize faulty thought patterns. [5] Before treatment, it can help to provide psychoeducation, as with self-help books and support websites. [5] History [ edit ] In 1886, Enrico Morselli reported a disorder that he termed dysmorphophobia . [30] In 1980, the American Psychiatric Association recognized the disorder, while categorizing it as an atypical somatoform disorder, in the third edition of its Diagnostic and Statistical Manual of Mental Disorders ( DSM ). [3] Classifying it as a distinct somatoform disorder, the DSM-III' s 1987 revision switched the term to body dysmorphic disorder . [3] Published in 1994, DSM-IV defines BDD as a preoccupation with an imagined or trivial defect in appearance, a preoccupation causing social or occupational dysfunction, and not better explained as another disorder, such as anorexia nervosa . [3] [31] Published in 2013, the DSM-5 shifts BDD to a new category ( obsessive–compulsive spectrum ), adds operational criteria (such as repetitive behaviors or intrusive thoughts), and notes the subtype muscle dysmorphia (preoccupation that one's body is too small or insufficiently muscular or lean). [ citation needed ] References [ edit ] ^ a b c d Cororve, Michelle; Gleaves, David (August 2001).
    PHOBS
    • Body Dysmorphic Disorder Mayo_clinic
      Overview Body dysmorphic disorder is a mental health condition in which you can't stop thinking about one or more perceived defects or flaws in your appearance — a flaw that appears minor or can't be seen by others. But you may feel so embarrassed, ashamed and anxious that you may avoid many social situations. When you have body dysmorphic disorder, you intensely focus on your appearance and body image, repeatedly checking the mirror, grooming or seeking reassurance, sometimes for many hours each day. Your perceived flaw and the repetitive behaviors cause you significant distress and impact your ability to function in your daily life. You may seek out numerous cosmetic procedures to try to "fix" your perceived flaw.
  • Fibrocystic Breast Changes Wikipedia
    It is not a classic form of mastitis (breast inflammation). [27] Eponyms [ edit ] This entity has historically also been termed Bloodgood’s disease , Cooper's disease (after Sir Astley Paston Cooper, 1st baronet ), Phocas' disease , Reclus’ disease and Reclus’ syndrome (after Paul Reclus ), Reclus-Schimmelbusch disease , Schimmelbusch disease and Tillaux-Phocas disease . [28] References [ edit ] ^ a b c d e f g h i j k l m Ferri, Fred F. (2018).
    ESR1, ERBB2, TP53, FHIT, CEACAM5, IGF1, MMP9, CCND1, BRCA1, CEACAM3, PSG2, MMP1, CYP1B1, VEGFA, COMT, CEACAM7, IGFBP3, GSTM1, MUC1, PRL, EZR, PON1, PON2, XRCC1, TWIST1, SLC2A1, TIMP1, TFF1, SNAI2, SHBG, ADAM12, PSEN2, RPS6KA3, RBP1, RAC1, PTGS2, CXCR4, NAT2, FOSL1, CAMKMT, MICA, MIR202, MIR379, TAS2R6P, MIRLET7B, GSTK1, TAS2R18P, TAS2R64P, SLCO6A1, SCGB3A1, LPCAT1, AKIP1, SORBS2, NBPF1, PPP6R3, OTUD4, CRLS1, DERL2, TOX3, RASSF1, SDC3, PIP, SLC4A7, ARTN, POLB, ND5, PGR, PDCD1, EZH2, ESR2, ERCC4, EGFR, ACE, DCN, CYP19A1, CYP17A1, CYP11A1, CYP1A1, CTNNB1, CDKN1B, KRIT1, CALM3, CALM2, CALM1, CA9, BCL2A1, AZGP1, AR, FASLG, GFRA1, GLA, GSTM2, MDM2, PCNA, ODC1, NCAM1, MYC, NR0B1, MTHFR, COX2, MT2A, MMP2, LEPR, GSTP1, KRT19, KISS1, CD82, INSL3, IL10, IGF2, HSD17B1, HNMT, HGF, MTCO2P12
    • Fibrocystic Breasts Mayo_clinic
      Overview Fibrocystic breasts are composed of tissue that feels lumpy or ropelike in texture. Doctors call this nodular or glandular breast tissue. It's not at all uncommon to have fibrocystic breasts or experience fibrocystic breast changes. In fact, medical professionals have stopped using the term "fibrocystic breast disease" and now simply refer to "fibrocystic breasts" or "fibrocystic breast changes" because having fibrocystic breasts isn't a disease. Breast changes that fluctuate with the menstrual cycle and have a ropelike texture are considered normal. Fibrocystic breast changes don't always cause symptoms. Some people experience breast pain, tenderness and lumpiness — especially in the upper, outer area of the breasts.
  • Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly Omim
    In the first family, 1 child died of respiratory distress, and pregnancy of her aunt was terminated at 28 weeks' gestation for severe narrowing of the thorax.
    NEK1, DYNC2H1, TRAF3IP1, IFT172, TTC21B, WDR35, WDR34, IFT140, KIAA0586, IFT52, DYNC2LI1, WDR60, TCTEX1D2, CEP120, EVC2, CRMP1, FUZ, IFT80, EVC, TTC21B-AS1
    • Short Rib-Polydactyly Syndrome, Majewski Type Orphanet
      A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fetal in the neonatal period.
    • Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly Omim
      A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-6 with or without polydactyly (SRTD6) is caused by homozygous mutation in the NEK1 gene (604588) on chromosome 4q33. There is also evidence that SRTD can be caused by digenic biallelic mutation in the NEK1 and DYNC2H1 (603297) genes. Description Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance.
    • Majewski's Polydactyly Syndrome Wikipedia
      Majewski's polydactyly syndrome Other names Polydactyly with neonatal chondrodystrophy type I This condition is inherited in an autosomal recessive manner Majewski's polydactyly syndrome , also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type II , and shorts rib-polydactyly syndrome , is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia ( skeletal abnormalities in the development of bone and cartilage ) with a narrow thorax , polysyndactyly , disproportionately short tibiae , thorax dysplasia, hypoplastic lungs and respiratory insufficiency. Associated anomalies include protruding abdomen, brachydactyly , peculiar faces, hypoplastic epiglottis , cardiovascular defects, renal cysts, and also genital anomalies. Death occurs before or at birth. The disease is inherited in an autosomal recessive pattern. It was characterized in 1971. [1] References [ edit ] ^ Majewski, F.; Pfeiffer; Lenz; Müller; Feil; Seiler (1971). "Polysyndactyly, short limbs, and genital malformations--a new syndrome?"
  • Optic Neuropathy Wikipedia
    "Berk-Tabatznik syndrome" . Retrieved 28 September 2013 . ^ Sadun, Alfredo A (2009).
    PAX6, ND6, MYOC, ND1, ND4, NDUFA1, NDUFA13, NDUFS3, NDUFS6, NDUFS4, NDUFV1, NDUFS1, NDUFS2, NDUFV2, NDUFB10, NDUFB9, NDUFA6, NDUFS8, NDUFB3, ABCG8, OPA1, AGXT, TMEM126B, FOXRED1, NDUFB11, TIMMDC1, SH3BP2, NDUFAF1, NDUFAF4, LDLRAP1, NDUFAF3, TXN2, ABCG5, TSFM, ND5, NDUFAF5, ATN1, NDUFAF2, C12orf65, PCSK9, CYP1B1, NUBPL, NDUFS7, LDLR, ND4L, APOB, ATP6, COX3, CYTB, CISD2, ND2, ND3, NDUFA11, EPO, RTN4IP1, OPA3, EDN1, WFS1, MOG, ACO2, MFN2, PRPS1, NOS2, OPN4, AQP4, WDHD1, KIF1B, SIRT1, MMD, DPYSL5, NANOS2, TMEM126A, TLR9, SLCO6A1, SEMA6A, GSTK1, PGR, OPTN, ESR1, HSPA4, HMGB1, HGF, GSTT1, GSTM1, GABPA, EGFR, NEFL, EDNRB, ACE, CRP, CASP3, APOE, AKR1B1, KARS1, NFE2L2, DNM1L, SSBP1, KNTC1, TULP1, TSHR, TP53, TNF, THY1, SOD2, NTRK2, CCL2, RAG1, PTEN, MAPK8, PMP22, P2RY6, PCAT2
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