-
Hearing Loss
Wikipedia
There are several hypotheses including cognitive resources being redistributed to hearing and social isolation from hearing loss having a negative effect. [28] According to preliminary data, hearing aid usage can slow down the decline in cognitive functions . [29] Hearing loss is responsible for causing thalamocortical dysrthymia in the brain which is a cause for several neurological disorders including tinnitus and visual snow syndrome . Cognitive decline [ edit ] Hearing loss is an increasing concern especially in aging populations, the prevalence of hearing loss increase about two-fold for each decade increase in age after age 40. [30] While the secular trend might decrease individual level risk of developing hearing loss, the prevalence of hearing loss is expected to rise due to the aging population in the US. ... Around 75–80% of all these cases are inherited by recessive genes , 20–25% are inherited by dominant genes , 1–2% are inherited by X-linked patterns, and fewer than 1% are inherited by mitochondrial inheritance . [56] Syndromic deafness occurs when there are other signs or medical problems aside from deafness in an individual, [56] such as Usher syndrome , Stickler syndrome , Waardenburg syndrome , Alport's syndrome , and neurofibromatosis type 2 . ... Disorders responsible for hearing loss include auditory neuropathy , [58] [59] Down syndrome , [60] Charcot–Marie–Tooth disease variant 1E, [61] autoimmune disease , multiple sclerosis , meningitis , cholesteatoma , otosclerosis , perilymph fistula , Ménière's disease , recurring ear infections, strokes, superior semicircular canal dehiscence , Pierre Robin , Treacher-Collins , Usher Syndrome , Pendred Syndrome , and Turner syndrome, syphilis , vestibular schwannoma , and viral infections such as measles , mumps , congenital rubella (also called German measles) syndrome, several varieties of herpes viruses , [62] [63] HIV/AIDS , [64] and West Nile virus . ... One reason for the hearing problems these patients often experience is due to the head shadow effect . [86] Prevention [ edit ] It is estimated that half of cases of hearing loss are preventable. [87] About 60% of hearing loss in children under the age of 15 can be avoided. [2] A number of preventive strategies are effective including: immunization against rubella to prevent congenital rubella syndrome , immunization against H. influenza and S. pneumoniae to reduce cases of meningitis , and avoiding or protecting against excessive noise exposure. [15] The World Health Organization also recommends immunization against measles , mumps , and meningitis , efforts to prevent premature birth , and avoidance of certain medication as prevention. [88] World Hearing Day is a yearly event to promote actions to prevent hearing damage. ... Also reported in 2013 was regrowth of hair cells in deaf adult mice using a drug intervention resulting in hearing improvement. [125] The Hearing Health Foundation in the US has embarked on a project called the Hearing Restoration Project. [126] Also Action on Hearing Loss in the UK is also aiming to restore hearing. [127] Researchers reported in 2015 that genetically deaf mice which were treated with TMC1 gene therapy recovered some of their hearing. [128] [129] In 2017, additional studies were performed to treat Usher syndrome [130] and here, a recombinant adeno-associated virus seemed to outperform the older vectors. [131] [132] Audition [ edit ] Besides research studies seeking to improve hearing, such as the ones listed above, research studies on the deaf have also been carried out in order to understand more about audition.SLC26A4, PCDH15, USH1G, MSRB3, GSDME, DNMT1, TJP2, TECTA, WFS1, GJB6, GJB2, MYO7A, GJB3, OTOF, USH2A, CDH23, EYA4, TMPRSS3, TMC1, PRPS1, ACTG1, WHRN, TRIOBP, USH1C, LRTOMT, MYO15A, MARVELD2, ILDR1, SIX1, POU3F4, PJVK, COL4A5, FGFR3, ADGRV1, CHD7, MYO3A, SALL4, TMIE, FOXC1, GRXCR1, DSPP, FANCC, FGF3, PITX2, COCH, GIPC3, TPRN, EYA1, SLC33A1, CLDN14, FANCG, FANCA, BTD, ARSB, PNPT1, SLC29A3, APOE, CLRN1, GRHL2, SMPX, ESRRB, CIB2, SLC26A5, COL11A2, LOXHD1, CRYM, DIAPH1, SH3PXD2B, TIMM8A, OTOA, RDX, LMX1A, STAG2, CACNA2D2, TLR4, ERCC6, MN1, NTF3, RPS6KA3, TRAPPC4, ABHD5, RPGR, HSD17B4, DIABLO, FOXI1, CCDC50, SOD1, ATP6V1B1, MIR96, ABHD12, BCL2L1, CISD2, BSND, MYO1A, SLC17A8, STAT1, CDK8, SERPINB6, UCP2, BDNF, PDE5A, UCP3, IL10, ARC, KCNQ4, STRC, POU4F3, ELMOD3, OTOGL, SLC26A2, LHFPL5, ESPN, CEACAM16, TBC1D24, SOX10, PAX3, GUSB, TFAP2A, IQGAP2, LMNA, GJB1, GJB4, MANBA, ATP6, KCNE1, MPZ, COL2A1, CDC14A, COL4A4, PMP22, CABP2, RMND1, OTOG, EDN1, TFAP2B, TCF12, HNF1B, UBE2A, FIG4, TWIST1, ALMS1, TELO2, IFT140, PIEZO1, MED12, SEMA3E, SHOC2, CEP57, IQCB1, GDF3, GABBR2, AMMECR1, CREB3L1, SCO2, CERT1, ZMPSTE24, SF3B4, COQ7, KDM6A, BCAP31, SLX4, PIGO, TBX1, NSD2, ZIC1, PQBP1, TBX15, NELFA, LMNB2, WNT5A, ABCB6, XRCC2, PPP1R15B, TULP1, KMT2D, ARL6, TBX4, BMP15, TRRAP, SHANK3, CDC45, BUB3, PLA2G6, AIFM1, SMC3, PLOD3, KYNU, TGFB1, ZNF469, PEX11B, TNFRSF11A, PHF6, OFD1, TP63, TNFSF11, CNTNAP1, TGM1, STUB1, LRAT, TERT, MKKS, PIGL, CHST3, ANTXR1, ITM2B, TERC, RECQL4, COG1, USP9X, ARID1A, RBM10, USP45, TK2, NRXN1, THRB, TRIP13, NAA10, RNF135, AP1S2, CEP290, TCIRG1, TBL1XR1, DARS2, MSTO1, WRAP53, FANCL, CARS2, PHIP, SH3TC2, IMPAD1, MKS1, NSUN2, BCOR, UGT1A1, LZTFL1, NDUFB11, USB1, RTEL1, OTUD6B, LIPT1, MBTPS2, DACT1, WAC, TACO1, TRAPPC12, NDUFA13, WDPCP, GMNN, TPRKB, SOST, TBX22, RFWD3, BBS7, FANCI, HYMAI, PORCN, NMNAT1, EPS8L2, NXN, SLC39A8, PIEZO2, ALOXE3, NDUFAF5, GBA2, FANCM, ARID1B, NUP107, RPGRIP1, COQ8A, NOP10, MRPS22, TWNK, CCDC28B, KLHL7, NDUFA12, VPS11, SPATA7, MCTP2, VAC14, NHP2, PIGV, SLC52A2, FOXRED1, RRM2B, PALB2, NDRG1, NARS2, CTC1, CRB1, SURF1, PLXND1, POGZ, TRIM32, P2RX2, DHX30, MORC2, NTNG1, PUF60, EXOSC8, POLG2, POLR3A, PRDM5, IFT27, SLC19A3, SDCCAG8, CDT1, RAI1, YME1L1, EBP, STAMBP, BRIP1, POMT1, COLEC10, NOP56, SEC23B, MAD2L2, SPIDR, KAT6B, CDK20, IFT172, PYCR2, PSMC3IP, SNX10, ANKRD11, UBE2T, NDUFAF4, BBS10, PCLO, PGAP2, BBS9, INTU, EHMT1, TINF2, ABCA12, WBP2, ZBTB20, CNTNAP2, DNAH1, SIN3A, NDUFAF3, ANAPC15, L2HGDH, RAB3GAP2, AIPL1, KCNE5, DCAF17, ORC6, LEMD3, TAF1, TTR, ABCC8, GCK, GBA, ARID2, FLCN, GALNS, GALC, GAA, FZD2, KDSR, FUCA1, NR5A1, FSHR, FXN, FMR1, CERS3, FLNA, FOXG1, FGFR2, FGFR1, GPC4, FDXR, FANCF, FANCB, ACSL4, FANCE, FANCD2, RNASEH1, NALCN, ERCC5, ERCC4, GCH1, GJA1, STXBP1, GPC3, ITGB6, PDX1, INS, IMPDH1, BEAN1, SIX5, IFRD1, IDUA, IDS, TNC, HSPD1, HNRNPK, HNF4A, HIVEP1, HEXA, HCCS, HBB, HARS1, GUCY2D, C8orf37, BBS12, LCA5, GSN, ASXL1, GNS, GNAS, GNAI3, GLI3, GLB1, ERCC3, ERCC2, EP300, EDNRB, PTPRQ, RUNX2, PCARE, CACNA1D, BUB1B, BUB1, BTK, BRCA2, BRAF, BRCA1, BCS1L, BBS4, BBS2, BBS1, GDF6, ASPA, ARSL, C10orf105, ALG11, APC, SLC25A4, ALOX12B, ABCD1, AKT1, AK2, AHSG, PET100, KLLN, ACVR1, NDUFS7, CDC6, CHD4, CRX, EDN3, ECHS1, DVL3, DVL1, ATN1, SUMF1, DKC1, DHCR7, PNPLA1, SLC26A4-AS1, DDX11, DDX3X, CTNNB1, CREBBP, NIPAL4, COX15, COX7B, RD3, COL10A1, ZFP57, COL7A1, COL4A6, COL4A3, COL1A2, COL1A1, CLCN7, AP1S1, CKMT1B, KARS1, KCNC3, TTC8, RET, SMIM12, COLEC11, RAD51, PTH1R, NLRP3, PTEN, MASP1, GPRASP2, PRKAR1A, PPP1CB, CTSA, POLR2F, POLG, NUS1, PLCB4, PLAGL1, PIK3CA, PIK3C2A, PIGA, TWIST2, PHEX, ATP8B1, PEX13, PEX6, PEX1, PEPD, PDHA1, PDE9A, PDE4D, DPF2, REV3L, PCYT1A, CHST14, CDKL5, STAT3, SRY, SRP72, SOX11, SOX9, SOX4, SOX2, SON, SMARCE1, SMARCC2, SMARCB1, SMARCA4, SNAI2, RFT1, NDUFAF2, COG7, SGSH, SDHD, SDHC, SDHB, SDHA, BBIP1, G6PC3, SC5D, SALL1, DTD1, RPL11, RPE65, PDE1C, RAD51C, KCNJ11, SMAD4, MYCN, TRNL1, MTHFD1, ATP8, BBS5, VPS37A, NDUFAF6, MITF, MGP, HGSNAT, MEOX1, MECP2, MAF, B3GLCT, PAX2, LRP5, LRP4, RDH12, LMX1B, LMNB1, LIG4, LHX1, LETM1, KRAS, KIT, KIF5A, KCNQ1, KCNJ13, MYD88, MYH3, NDUFV1, TNFRSF11B, OAT, ROR2, ORC1, NPHP1, NOTCH2, NFIX, MTFMT, NDUFV2, NDUFS8, NDUFS4, NDUFS3, NDUFS2, NDUFS1, NDUFB8, NDUFA10, ORC4, NDUFA9, NDUFA4, NDUFA2, PARN, NAGLU, NAGA, RNR1, MYO6, MYH9, OPA1, MYH6, NT5E, MYH14, COX1, KCNJ10, NAT2, GSTM1, GATA3, IGF1, ADA, ADCY1, CD226, ACE, UCN, MTHFR, S1PR2, ATP2B2, TRS-AGA2-3, GRM7, CRP, F11, ETS1, TRPV4, EPO, FABP2, SLC26A3, SLC26A11, RSPO1, DFNA47, GATA2, FCGR1A, FOXO3, FLI1, FLNC, DMD, PTCRA, DFNB33, GSTM3, GSTP1, GSTT1, HOXA1, IDH2, SH2D6, CYP2A6, DFNA16, DFNA7, DFNB71, ADCYAP1, DFNB55, ALB, DFNB47, DFNB45, BIRC5, ARL2, MIR34A, CHCHD10, BAK1, BCL2, CALCA, CAPG, CD5L, CD40LG, CD69, GJC3, CKB, COL9A3, COL11A1, DFNB38, DFNA49, KLKB1, DFNX3, IL1B, MET, LRP2, LY6E, UCP1, UROD, BEST1, CD164, ADIPOQ, FHL5, BAG3, SNAP91, PDLIM5, GIPC1, EHD1, SIRT1, BACE1, DFNA24, PDZD7, MTO1, EHF, HPGDS, REM1, EHD4, EHD3, EHD2, TSPEAR, MCPH1, THG1L, FKBP14, POMGNT1, ACTB, TPO, TGFB3, PRKCG, ANKH, ATXN3, MSX1, MTAP, ND4, MTR, TRNS1, NEFL, PAX9, SERPINA1, PLOD1, PLS1, PTGDS, DFNA18, RASA1, ROM1, SERHL, ACSM3, ATXN2, SCD, SKP1, SLC6A11, SLC6A13, SKP1P1, SLC25A21, TGFA, ERICD
-
Catecholaminergic Polymorphic Ventricular Tachycardia
Wikipedia
Catecholaminergic polymorphic ventricular tachycardia Other names CPVT Bidirectional ventricular tachycardia in a patient with CPVT Specialty Cardiology Symptoms Blackouts , sudden cardiac death [1] Usual onset Childhood / adolescence Causes Genetic Risk factors Family history Diagnostic method Electrocardiogram (ECG), genetic testing , adrenaline provocation, exercise testing [1] Differential diagnosis Long QT syndrome , Brugada syndrome , Andersen-Tawil syndrome , Early repolarization syndrome Treatment Avoidance of strenuous exercise, medication, implantable cardioverter defibrillator [2] Medication Beta-adrenoceptor blockers , Verapamil , Flecainide [2] Prognosis 13–20% life threatening arrhythmias over 7–8 years [3] Frequency 1:10,000 [4] Catecholaminergic polymorphic ventricular tachycardia ( CPVT ) is an inherited genetic disorder that predisposes those affected to potentially life-threatening abnormal heart rhythms or arrhythmias . ... Unlike conditions such as long QT syndrome and Brugada syndrome , the resting 12-lead ECG in those with CPVT is generally normal. [6] However, approximately 20% of those affected have a slow resting heart rate or sinus bradycardia . [6] Exercise and other provocative testing [ edit ] Treadmill exercise stress testing Exercise testing , commonly performed on a treadmill or stationary bicycle , can help to diagnose CPVT. ... "Chapter 32 - Andersen-Tawil and Timothy Syndromes". In Gussak I, Antzelevitch C (eds.). ... "How to perform and interpret provocative testing for the diagnosis of Brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia" . ... External links [ edit ] Classification D OMIM : 604772 611938 MeSH : C536334 DiseasesDB : 33816 SNOMED CT : 419671004 External resources GeneReviews : NBK1289 Orphanet : 3286 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever v t e Diseases of ion channels Calcium channel Voltage-gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage-gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot–Marie–Tooth disease X1 GJB2 Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also: ion channels
-
Cervical Vertebrae, Agenesis Of
Omim
The patient had a webbed neck, and a diagnosis of Klippel-Feil syndrome was made before x-rays were taken.
-
Temperature-Sensitive Lethal Mutation
Omim
While testing diploid skin fibroblast cell strains from patients with Cockayne syndrome for enhancement of mutagen sensitivity at elevated temperatures, Hoar (1981) observed a cell strain unable to form colonies at 39 degrees C.
-
Amelia Of Upper Limb
Orphanet
A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development.
-
Trichoodontoonychial Dysplasia
Orphanet
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics).
- Cleft Mitral Valve Orphanet
-
Amelia Of Lower Limb
Orphanet
A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development.
-
Ovarian Fibrothecoma
Orphanet
Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).
-
Ppoma
Orphanet
PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis.
-
Acute Pandysautonomia
Orphanet
A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.
-
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Orphanet
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing).
-
Hypoplasia Of The Mitral Valve Annulus
Orphanet
Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.
- Mitral Atresia Orphanet
-
Syndactyly Type 8
Orphanet
A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities.
-
Autosomal Recessive Epidermolytic Ichthyosis
Orphanet
A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement.
-
Fbln5-Related Cutis Laxa
Gene_reviews
ATP6V0A2 -related cutis laxa (ARCL2A) spans a phenotypic spectrum that includes Debré-type cutis laxa at the severe end and wrinkly skin syndrome at the mild end. Affected individuals have furrowing of the skin of the whole body that improves with time. ... The aortic pathology of these aneurysms (so-called cystic media degeneration) is indistinguishable from that of Marfan syndrome. It remains to be seen whether pathogenic variants in ELN are associated with heritable thoracic aortic disease (HTAD). ... Cutis laxa, autosomal recessive, type IIIA (or de Barsy syndrome A) is characterized by a progeroid appearance, pre- and postnatal growth retardation, moderate to severe intellectual disability, corneal clouding or cataracts, and generalized cutis laxa [Guerra et al 2004]. ... Inheritance is autosomal recessive, with the exception of PYCR1 (pathogenic variants in which account for a small percentage of this syndrome). Further molecular characterization is needed. ... Pathogenic variants in PYCR1 account for a small percentage of De Barsy syndrome. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with FBLN5 -related cutis laxa, the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.
-
Alkaptonuria
Wikipedia
"The biology of hyperpigmentation syndromes" . Pigment Cell Melanoma Res . 27 (4): 512–24. doi : 10.1111/pcmr.12235 . ... External links [ edit ] Classification D ICD - 10 : E70.2 ( ILDS E70.210) ICD - 9-CM : 270.2 OMIM : 203500 MeSH : D000474 DiseasesDB : 409 External resources MedlinePlus : 001200 eMedicine : ped/64 Patient UK : Alkaptonuria GeneReviews : Alkaptonuria Orphanet : 56 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
-
Blood Group, P1pk System
Omim
., 1985; Spitalnik and Spitalnik, 1995). NOR Polyagglutination Syndrome Polyagglutination is the occurrence of red cell agglutination by virtually all human sera, but not by autologous serum or sera from newborns. ... The trait was transmitted in an autosomal dominant pattern of inheritance. This polyagglutination syndrome was designated 'NOR,' since the family was from Norton, Virginia. ... This report delineated an inherited form of polyagglutination syndrome. Kusnierz-Alejska et al. (1999) reported a Polish family in which 4 individuals showed polyagglutination syndrome consistent with NOR. ... Thuresson et al. (2011) postulated that the variant may exhibit regulatory function. NOR Polyagglutination Syndrome In NOR+ individuals from the American and Polish families with NOR polyagglutination syndrome (Harris et al., 1982 and Kusnierz-Alejska et al., 1999) Suchanowska et al. (2012) identified a heterozygous mutation in the A4GALT gene (Q211E; 607922.0008).
-
Anophthalmia
Wikipedia
It can also be associated with other syndromes. Contents 1 Causes 1.1 SOX2 1.2 RBP4 1.3 Other influential genes 1.4 Environmental influence 1.5 Chromosome 14 2 Classifications 3 Prenatal diagnosis 3.1 Ultrasounds 3.2 Amniocentesis 4 Postnatal diagnosis 4.1 MRI/CT 4.2 Examination 5 Associations 6 Treatments 6.1 Prosthetic eye 6.2 Cosmetic surgery 7 Epidemiology 8 References 9 External links Causes [ edit ] SOX2 [ edit ] The most genetic based cause for anophthalmia is caused by the SOX2 gene. Sox2 anophthalmia syndrome is caused by a mutation in the Sox2 gene that does not allow it to produce the Sox2 protein that regulates the activity of other genes by binding to certain regions of DNA. Without this Sox2 protein, the activity of genes that is important for the development of the eye is disrupted. Sox2 anophthalmia syndrome is an autosomal dominant inheritance, but the majority of patients who suffer from Sox2 anophthalmia are the first in their family history to have this mutation. ... These include: [10] Trisomy 13 Lenz Syndrome Goldenhar-Gorlin Syndrome Waardenburg syndrome Aside from these associative conditions, anophthalmia in only one eye tends to be associated with complications in the other eye.SOX2, STRA6, RAX, PAX6, OTX2, BMP4, SIX6, MAB21L2, TFAP2A, RARB, HCCS, GLI2, RBP4, POMGNT1, CEP55, MKS1, CHD7, RPGRIP1, CC2D2A, BCOR, SMOC1, NDUFB11, TMEM216, WDPCP, PORCN, POMT2, GRIP1, FKRP, POMGNT2, KIF7, SOX2-OT, FREM2, HYLS1, FREM1, B3GALNT2, TMEM67, TMEM107, SH2B1, POMK, B9D2, CEP290, FRAS1, TCTN2, CSPP1, TMEM231, B9D1, CRPPA, SEMA3E, COL4A1, FANCB, NAA10, LARGE1, DAG1, COX7B, RXYLT1, FKTN, POMT1, KIF11, B4GAT1, RPGRIP1L, SMCHD1, ALDH1A3, VSX2, ANOP1, GDF6, SOX3, FOXE3, FOXC1, RBM24, ASXL1, GJA8, AVP, GH1, VAX2, HSP90AA1, IGF1, KITLG, MITF, SKI, TCF3, TCOF1, TEX11, CDK5RAP2, LHX2, SLC39A4, YAP1, VAX1, TMX3, NDP