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Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
Gene_reviews
.) >10 genes 1 XL AR AD Can be differentiated by ERG phenotype & natural history Ocular (see Ocular Albinism, X-Linked) & oculocutaneous (see OCA Type 4; OMIM PS203100) albinism >10 genes 2 XL AR Clinical exam (hypopigmentation of skin, hair, eyebrows/eyelashes, iris, retina) Retinal imaging (OCT & FAF); OCT can highlight foveal hypoplasia Normal ERG & chiasmal misrouting on VEP Syndromic Neuronal ceroid-lipofuscinoses (NCL) 13 genes 3 AR AD 4 Infantile NCL presents w/congenital or early-onset (age <6 mos) blindness. ... NCL is assoc w/neurocognitive decline & epilepsy. Joubert syndrome >30 genes 5 AR XL 6 Presents w/severe visual impairment, ocular motor abnormalities Characteristic MRI appearance incl "molar tooth sign" Nephronophthisis in later childhood Zellweger spectrum disorder 13 genes 7 AR Assoc features: Sensorineural deafness Dysmorphic features Developmental delay Hepatomegaly Early death Alström syndrome ALMS1 AR Presenting features: Infantile-onset nystagmus Photophobia Cone-rod dystrophy Other systemic features: Childhood obesity Hyperinsulinemia Type 2 diabetes mellitus Hepatic dysfunction Heart failure Sensorineural hearing loss Renal failure Cobalamin C deficiency (See Disorders of Intracellular Cobalamin Metabolism.) ... Pathogenic variants in ARL13B , B9D1 , B9D2 , C2CD3 , C5orf42 , CC2D2A , CEP41 , CEP104 , CEP120 , CEP290 , CSPP1 , IFT172 , INPP5E , KATNIP ( KIAA0556 ), KIAA0586 , KIF7 , MKS1 , NPHP1 , OFD1 , PDE6D , POC1B , RPGRIP1L , TCTN1 , TCTN2 , TCTN3 , TMEM67 , TMEM107 , TMEM138 , TMEM216 , TMEM231 , TMEM237 , TTC21B , and ZNF423 are known to cause Joubert syndrome. 6. Joubert syndrome is predominantly inherited in an autosomal recessive manner. Joubert syndrome caused by pathogenic variants in OFD1 is inherited in an X-linked manner.GUCY2D, CRB1, RPGRIP1, TULP1, RPE65, CEP290, AIPL1, PROM1, NMNAT1, IQCB1, PTPRC, RDH12, CRX, CLTA, LCA5, SPATA7, LRAT, KCNJ13, CRB2, RPE, CXCL8, RHO, MERTK, RD3, CCT2, IMPDH1, OLFM4, NR2E3, IFT140, SH2D3A, TUBB4B, PCYT1B, BCL6, NUB1, KRT20, AHI1, CNTLN, CABP4, SLC7A14, NYX, MPP5, SLC25A22, POC1B, CYP4V2, SLC16A12, SQSTM1, SORD, LOH19CR1, FUT4, HTC2, GUCA2A, GUCA1A, GRB10, GNAT2, GFAP, ERBB2, BEST1, DIO3, CYP3A4, CTNNA1, CNGA3, TNFRSF8, MS4A1, IL6, IRF1, MEF2C, MITF, MYCN, MYO7A, NRL, OTX2, PDE6B, RBP3, PRPH2, RHEB, GRK1, RPS19, CACNA1F, TNF, TUB, LCA10
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Symphalangism, Proximal, 1a
Omim
No mention of short stature was made. See tarsal-carpal coalition syndrome (186570). In a child with symphalangism reported by Stephan (2006), complete fixation of all the ossicular articulations was found at surgery for correction of her deafness, and total reconstruction of the ossicular chain was necessary. ... They also found a dominant NOG mutation in a family segregating multiple synostoses syndrome (SYNS1; 186500); thus, SYM1 and SYNS1, both of which have multiple joint fusion as their principal feature, are allelic disorders. ... Takahashi et al. (2001) identified 3 novel mutations in Japanese patients: a cys184-to-tyr mutation (602991.0009) in a sporadic case of symphalangism, a leu129-to-ter mutation (602991.0010) in a familial case of symphalangism, and a 1-bp frameshift mutation (602991.0011) in a family with multiple synostoses syndrome. History Ankylosis of the proximal interphalangeal joints was thought to have the distinction of being traced through more generations than almost any other, having been identified in the first Earl of Shrewsbury who lived in the 15th century (Drinkwater, 1917). ... INHERITANCE - Autosomal dominant HEAD & NECK Ears - Conductive hearing loss - Stapes ankylosis SKELETAL Hands - Carpal bone fusion - Proximal interphalangeal (PIP) joint synostoses - Distal interphalangeal (DIP) joint synostoses (occasional) - Short 5th metacarpal Feet - Tarsal bone fusion NEUROLOGIC Central Nervous System - Normal intelligence MISCELLANEOUS - Allelic to multiple synostoses syndrome 1 ( 186500 ), tarsal-carpal coalition syndrome ( 186570 ), and stapes ankylosis syndrome without symphalangism ( 184460 ) MOLECULAR BASIS - Caused by mutation in the homolog of the mouse Noggin gene (NOG, 602991.0001 ) ▲ Close
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Marsili Syndrome
Omim
A number sign (#) is used with this entry because of evidence that Marsili syndrome (MARSIS) is caused by heterozygous mutation in the ZFHX2 gene (617828) on chromosome 14q11. ... The authors named the disorder 'Marsili syndrome' after the name of the family. ... Molecular Genetics In 6 members of a 3-generation Italian family with Marsili syndrome, Habib et al. (2018) identified a heterozygous missense mutation in the ZFHX2 gene (R1913K; 617828.0001).
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Pure Autonomic Failure
Wikipedia
Pure autonomic failure Other names Bradbury-Eggleston syndrome, idiopathic orthostatic hypotension Specialty Neurology Symptoms primarily the same as orthostatic hypotension Complications primarily the same as orthostatic hypotension ; can convert to synucleinopathy Differential diagnosis presence of central nervous system dysfunctions including ataxia and/or parkinsonisms indicates the presence of autoimmune autonomic ganglionopathy or multiple system atrophy Pure autonomic failure ( PAF ) is a form of dysautonomia that first occurs in middle age or later in life; diagnosed more often in men than in women. ... Also, ingesting more water than usual can increase blood pressure and relieve some symptoms. [ citation needed ] History [ edit ] In 1925, Bradbury and Eggleston first characterized three patients seemingly with a common syndrome, with what they described as "the occurrence of syncopal attacks after or during exertion or even after standing erect for some minutes. ... Each of these patients felt much worse during the heat of summer." [1] [2] Further research identified multiple causes for these syndromic findings, now grouped as primary autonomic disorders (also called primary dysautonomia), including Pure Autonomic Failure, Multiple System Atrophy, and Parkinson's. ... It is relevant to note that progression to central nervous system neurodegeneration can also occur. [2] Eponym [ edit ] It is also known as Bradbury-Eggleston syndrome, named after Samuel Bradbury and Cary Eggleston who first described it in 1925. [3] [1] [4] References [ edit ] ^ a b S. ... External links [ edit ] Classification D MeSH : D001342 DiseasesDB : 32777 v t e Diseases of the autonomic nervous system General Dysautonomia Autonomic dysreflexia Autonomic neuropathy Pure autonomic failure Hereditary Hereditary sensory and autonomic neuropathy Familial dysautonomia Congenital insensitivity to pain with anhidrosis Orthostatic intolerance Orthostatic hypotension Postural orthostatic tachycardia syndrome Other Horner's syndrome Multiple system atrophy
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Locura
Wikipedia
Locura , which translates to " madness " in Spanish, [1] [2] is a mental disorder characterized as severe chronic psychosis. [2] [3] [4] The term refers to a culture-bound syndrome , found mostly in Latin America and Latin Americans in the United States . [5] [6] [3] [7] Also referred to as ataques de locura (meaning "madness attacks"), [6] it is categorized as a more severe form of nervios [7] ataque de nervios [6] [3] with symptoms appearing similar to those of schizophrenia . [2] [3] As the term may have multiple meanings in multiple environments, research on locura is limited and conflicting. [7] The term can be used loosely in Spanish when discussing madness in other psychological meaning, specifically describing a "deviance from the norm due to mental illness." [7] Besides for the implications found in the DSM-IV, the word is not used in English. [4] Contents 1 Classification 2 Signs and symptoms 3 History 4 See also 5 References Classification [ edit ] In the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders ( DSM-IV ), locura is classified as a culture-bound syndrome. Culture-bound syndromes can be found in an appendix of the manual named, Outline for Cultural Formulation and Glossary of Culture-Bound Syndromes. [4] However, the DSM - 5 does not include locura in its equivalent appendix named, Glossary of Cultural Concepts of Distress. [8] One author chooses to describe the symptoms as correlating to a somatoform disorder of conversive type. [6] Signs and symptoms [ edit ] Locura is thought to develop during times of stress or vulnerability in one's life, as well as the accumulation of difficulties or traumas. [3] [7] [4] Another possible cause is through the manifestation of supernatural maneuvers, [7] or maleficios (meaning "curses"). [6] [9] The DSM-IV includes symptoms of incoherence, agitation, inability to follow rules of social interaction, unpredictability, and possible violence. [4] Other sources include headache, fainting, convulsive attacks, difficulty in breathing, an urge to run away, hallucinations, and visions of people, visions, or demons. [2] [6] [7] History [ edit ] Locura has been examined in an indigenous group in Colombia called Embera . [6] After four members of the Embera community began exhibiting symptoms later described as, "repetitive episodes of what resembled a dissociative fugue disorder," [6] a local shaman explained that the outbreak could be attributed to a shaman from a different region. ... The shaman's treatments reportedly reduced the frequency of the symptoms greatly in all of the patients and eliminated symptoms completely in two patients. [6] See also [ edit ] Ataques de nervios Culture-bound syndrome References [ edit ] ^ "Locura - Spanish to English Translation | Spanish Central" . www.spanishcentral.com . ... Washington, DC: American Psychiatric Association. 1994. pp. 843–847. ^ Nogueira, Bruno; de Jesus Mari, Jair; Razzouk, Denise (2015). "Culture-bound syndromes in Spanish speaking Latin America: the case of Nervios, Susto and Ataques de Nervios" .
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Photosensitivity In Humans
Wikipedia
Properties of natural or artificial light that may abnormally affect people include: Timing of light (upset of normal circadian rhythms , seasonal affective disorder , sleep disorders) Intensity of light ( photophobia , sunburn , skin cancer ) [1] [2] Wavelength of light (in lupus , urticaria ) Rapid flickers in intensity of light may trigger or aggravate photosensitive epilepsy , epileptic seizure , or migraine headaches. [3] Conditions that may include sensitivity to light include vertigo and chronic fatigue syndrome . Controlled application of artificial light can be used in a program of light therapy to treat some disorders. Contents 1 Sunlight 2 Fluorescent lamps 3 See also 4 References Sunlight [ edit ] Main article: Health effects of sun exposure Sunlight, especially its ultraviolet radiation component, can cause increased or additional types of damage in predisposed individuals, such as those taking certain phototoxic drugs, or those with certain conditions associated with photosensitivity, including: Psoriasis [4] Atopic eczema [4] Mastocytosis Mast cell activation syndrome Histamine intolerance Erythema multiforme [4] Seborrhoeic dermatitis [4] Autoimmune bullous diseases ( immunobullous diseases ) [4] Mycosis fungoides [4] Smith–Lemli–Opitz syndrome [4] Porphyria cutanea tarda Also, many conditions are aggravated by strong light, including: Systemic lupus erythematosus [4] Sjögren’s syndrome [4] Sinear Usher syndrome [4] Rosacea [4] Dermatomyositis [4] Darier’s disease [4] Kindler-Weary syndrome [4] Fluorescent lamps [ edit ] This section called "Fluorescent lamps" possibly contains inappropriate or misinterpreted citations that do not verify the text .
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Stankiewicz-Isidor Syndrome
Omim
A number sign (#) is used with this entry because of evidence that Stankiewicz-Isidor syndrome (STISS) is caused by heterozygous mutation in the PSMD12 gene (604450) on chromosome 17q24. Description Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017). ... Molecular Genetics In 4 unrelated patients with Stankiewicz-Isidor syndrome, Kury et al. (2017) identified de novo heterozygous truncating or splice site mutations in the PSMD12 gene (604450.0001-604450.0004).
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Condylar Hypoplasia
Wikipedia
This type of condition usually happens as part of systemic diseases such as Hemifacial microsomia , Mandibulofacial Dysostosis , Goldenhar syndrome , Hurler syndrome , Proteus syndrome and Morquio syndrome . [2] [3] [4] Acquired (secondary) [ edit ] Acquired condylar hypoplasia happens when a person is not born with a small condyle but they sustain an injury during their growth which leads to this condition. ... D.; Gentry, L. R. (November 1999). "Proteus syndrome: craniofacial and cerebral MRI" . ... "The Correction of Auricular and Mandibular Deformities in Auriculo-Condylar Syndrome". Journal of Craniofacial Surgery . 16 (3): 489–492. doi : 10.1097/01.SCS.0000147655.94656.0D .
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Short-Rib Thoracic Dysplasia 18 With Polydactyly
Omim
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). ... There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500). Clinical Features Duran et al. (2017) reported a family (R06-303) in which a fetus from a dizygotic twin pregnancy showed features of short-rib polydactyly syndrome. Delivery occurred at 30 weeks' gestation and the affected newborn (R06-303A) died the following day.
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Aminoaciduria
Wikipedia
Complications Severe protein loss in the blood Risk factors Liver disease , malnutrition , kidney disease Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids . [2] In the healthy kidney, the glomeruli filter all amino acids out of the blood, and the renal tubules then reabsorb over 95% of the filtered amino acids back into the blood. [3] In overflow aminoaciduria, abnormally high concentrations of amino acids in the blood plasma overwhelm the resorptive capacity of the renal tubules, resulting in high concentrations of amino acids in the urine. [4] This may be caused by congenital disorders of amino acid metabolism , [3] for example, phenylketonuria , [5] or may be secondary to liver disease . [3] In renal aminoaciduria, the renal tubules are unable to reabsorb the filtered amino acids back into the blood, causing high concentrations of amino acids in the urine. [5] This may be caused by a defect in the transport proteins in the renal tubule, for example, as occurs in Hartnup disease , [5] or may be due to damage to the kidney tubule, for example, as occurs in Fanconi syndrome . [4] References [ edit ] ^ "Aminoaciduria" . ... External links [ edit ] Classification D DiseasesDB : 14901 SNOMED CT : 35912001 External resources MedlinePlus : 003366 v t e Components and results of urine tests Components Albumin Myoglobin hCG Leukocyte esterase Urine pregnancy test Ketone bodies Glucose Urobilinogen Bilirubin Creatinine RBC WBC Urinary casts Chemical properties Urine specific gravity Isosthenuria Urine osmolality Hypersthenuria Urine pH Urine anion gap Abnormal findings Red blood cells Hematuria ( Microscopic hematuria ) White blood cells Eosinophiluria Proteinuria Albuminuria / Microalbuminuria Albumin/creatinine ratio Urine protein/creatinine ratio Myoglobinuria Hemoglobinuria Bence Jones protein Small molecules Glycosuria Ketonuria Bilirubinuria Hyperuricosuria Aminoaciduria Other Bacteriuria Chyluria Crystalluria v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria This article about an endocrine, nutritional, or metabolic disease is a stub .ASL, SUCLA2, PEX1, ATP7B, PEX5, SCO1, SLC1A1, GLYCTK, COX20, TK2, COX14, UMPS, XPA, XPC, KYNU, OCRL, SLC7A7, GRHPR, KMT2B, COA8, ZMPSTE24, SLC35A1, SLC19A2, FTCD, SPINK5, FASTKD2, HIBCH, RRM2B, OTC, OAT, ERCC5, NEU1, BCS1L, CASR, CLCN5, COX6B1, COX8A, COX10, CPS1, CTNS, DDB2, EHHADH, ERCC2, ERCC3, ERCC4, TACO1, FH, GALE, GALT, GCLC, PET100, HGD, HNF4A, LMNA, MARS1, TRNN, TRNS1, NAGA, SLC6A19, CLTRN, PTH, ABCB6, TP53, HNF1A, SLC5A2, LYZ, GPT, LINC01672
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Melorheostosis
Wikipedia
Pain is a frequent symptom and the bone can have the appearance of dripping candle wax. [1] Contents 1 Cause 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Cause [ edit ] A randomly occurring somatic mutation of the MAP2K1 gene during fetal development is believed to be the cause. [2] [3] It is not known if LEMD3 mutations can cause isolated melorheostosis in the absence of osteopoikilosis or Buschke–Ollendorff syndrome . [4] Diagnosis [ edit ] Melorheostosis is a mesenchymal dysplasia manifesting as regions of dripping wax appearance or flowing candle wax appearance. [5] The disorder can be detected by radiograph due to thickening of bony cortex resembling "dripping candle wax." ... "Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis". ... External links [ edit ] 01061 at CHORUS Classification D ICD - 10 : M85.8 ICD - 9-CM : 733.99 OMIM : 155950 MeSH : D008557 DiseasesDB : 29229 v t e Bone and joint disease Bone Inflammation endocrine : Osteitis fibrosa cystica Brown tumor infection : Osteomyelitis Sequestrum Involucrum Sesamoiditis Brodie abscess Periostitis Vertebral osteomyelitis Metabolic Bone density Osteoporosis Juvenile Osteopenia Osteomalacia Paget's disease of bone Hypophosphatasia Bone resorption Osteolysis Hajdu–Cheney syndrome Ainhum Gorham's disease Other Ischaemia Avascular necrosis Osteonecrosis of the jaw Complex regional pain syndrome Hypertrophic pulmonary osteoarthropathy Nonossifying fibroma Pseudarthrosis Stress fracture Fibrous dysplasia Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint Chondritis Relapsing polychondritis Other Tietze's syndrome Combined Osteochondritis Osteochondritis dissecans Child leg: hip Legg–Calvé–Perthes syndrome tibia Osgood–Schlatter disease Blount's disease foot Köhler disease Sever's disease spine Scheuermann's_disease arm: wrist Kienböck's disease elbow Panner disease
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Multiple Evanescent White Dot Syndrome
Wikipedia
Please help to improve this article by introducing more precise citations. ( January 2013 ) ( Learn how and when to remove this template message ) Multiple evanescent white dot syndrome (MEWDS) is an uncommon inflammatory condition of the retina that typically affects otherwise healthy young females in the second to fourth decades of life. ... Optic disc oedema may also seen occasionally. [2] Cause [ edit ] The etiology of multiple evanescent white dot syndrome is currently unknown. [2] Diagnosis [ edit ] Visual field abnormalities are variable and include generalized depression of visual field, paracentral or peripheral scotoma and enlargement of the blind spot. ... [Multiple_Evanescent_White_Dot_Syndrome "Multiple Evanescent White Dot Syndrome"] Check |url= value ( help ) .
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Esophageal Atresia/tracheoesophageal Fistula
Medlineplus
In other cases it occurs with other birth defects or as part of a genetic syndrome (non-isolated or syndromic EA/TEF). ... In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause. Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. For example, approximately 10 percent of people with CHARGE syndrome, which is usually caused by mutations in the CHD7 gene, have EA/TEF. ... Inheritance Pattern When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition.
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Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Omim
A number sign (#) is used with this entry because of evidence that mitochondrial DNA depletion syndrome-16 (MTDPS16) is caused by homozygous mutation in the POLG2 gene (604983) on chromosome 17q23. ... For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). Clinical Features Varma et al. (2016) reported a 3-month-old boy with fulminant neonatal hepatic failure resulting in death at 9 months of age (Hoff et al., 2018).
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Chromosome 2q31.1 Duplication Syndrome
Omim
A number sign (#) is used with this entry because it represents a contiguous gene syndrome caused by duplication at chromosome 2q31.1 (chr2:176.7-177.7 Mb, NCBI36). ... INHERITANCE - Autosomal dominant GROWTH Height - Short stature HEAD & NECK Eyes - Nystagmus, pendular (in one family) SKELETAL Limbs - Radial shortening - Ulnar shortening - Tibial shortening - Fibula shortening Hands - Hand anomalies, complex (in some patients) - Triphalangeal thumb, hypoplastic (in 1 patient) - Cutaneous syndactyly, bilateral, fingers 3-4 (in one family) Feet - Clubfoot (in some patients) MISCELLANEOUS - Contiguous gene duplication syndrome - One 3-generation Korean family and one father daughter have been reported (last curated August 2013) MOLECULAR BASIS - Caused by 1 to 3.8-Mb duplication on chromosome 2q31.1 ▲ Close
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Autosomal Dominant Hyper-Ige Syndrome
Orphanet
Epidemiology Annual incidence is estimated at around 1/1,000,000. The syndrome affects males and females equally. ... A clinically distinct autosomal recessive hyper-IgE syndrome has also been described (AR-HIES; see this term).
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Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form
Medlineplus
TK2 -related mitochondrial DNA depletion syndrome, myopathic form ( TK2 -MDS) is an inherited condition that causes progressive muscle weakness (myopathy). ... Learn more about the gene associated with TK2-related mitochondrial DNA depletion syndrome, myopathic form TK2 Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
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Saccharopinuria
Wikipedia
External links [ edit ] Saccharopinuria; Alpha-aminoadipic semialdehyde synthase deficiency at NIH 's Office of Rare Diseases Classification D ICD - 10 : E72.3 ICD - 9-CM : 270.7 OMIM : 268700 MeSH : C537218 External resources Orphanet : 3124 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria This genetic disorder article is a stub .
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Non-Syndromic Pontocerebellar Hypoplasia
Orphanet
Differential diagnosis Differential diagnosis includes progressive cerebello-cerebral atrophy (PCCA), infantile cerebral and cerebellar atrophy (ICCA), congenital disorders of glycosylation type 1A and D, phosphoserine aminotransferase deficiency, certain congenital mitochondrial disorders, progressive encephalopathy with edema hypsarrhythmia and optic atrophy (PEHO) syndrome, dystroglycanopathies like Walker-Warburg syndrome, MEB-disease, Fukuyama congenital muscular dystrophy, lissencephaly, X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum, congenital fibrosis of the extraocular muscles type 3 (CFEOM3) with extraocular involvement, acquired cerebellar hypoplasia in extreme premature births (<32 weeks) which may disrupt normal brain development, and mutations in the CASK¬ gene , that cause Microcephaly and Pontocerebellar Hypoplasia (MICPCH).
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Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Orphanet
A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia. ... Prognosis Prognosis of Umbilical cord ulceration-intestinal atresia syndrome is poor, with intra-uterine fetal or neonatal death occurring in the majority of cases.