Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCataract (D002386)
Parent Node:
expandEye Diseases, Hereditary (D015785)
..Starting node
..expandCataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)

       Child Nodes:



 Sister Nodes: 
..expandAchromatopsia 4 (C564206)
..expandAchromatopsia 5 (C567759)
..expandAcrootoocular Syndrome (C564866)
..expandAicardi Syndrome (D058540) Child1
..expandAlacrima (C562827)
..expandAlacrima, Congenital (C566307)
..expandAlbinism (D000417) Child30
..expandAniridia (D015783) Child10
..expandAtaxia-Microcephaly-Cataract Syndrome (C563086)
..expandBasal Laminar Drusen (C563034)
..expandBestrophinopathy (C567518)
..expandBothnia Retinal Dystrophy (C564392)
..expandCataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
..expandCataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
..expandCataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
..expandCataract, Floriform (C566160)
..expandCataract, Pulverulent (C563426)
..expandCavitary Optic Disc Anomalies (C566924)
..expandCholestasis with Gallstone, Ataxia, and Visual Disturbance (C565856)
..expandChoroideremia (D015794) Child2
..expandCongenital Fibrosis of the Extraocular Muscles (C580012)
..expandCornea Plana 1 (C565158)
..expandCornea Plana 2 (C565677)
..expandCorneal Dystrophies, Hereditary (D003317) Child61
..expandCSNB1C (C567704)
..expandDrusen, Radial, Autosomal Dominant (C565088)
..expandDuane Retraction Syndrome (D004370) Child2
..expandEnhanced S-Cone Syndrome (C564835)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandFibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..expandFibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..expandFibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..expandFleck Retina, Familial Benign (C565564)
..expandFoveal Hypoplasia with Anterior Segment Anomalies (C565006)
..expandFoveal Hypoplasia, Isolated (C565005)
..expandGraves Ophthalmopathy (D049970)
..expandGrouped Pigmentation of the Macula (C565530)
..expandGyrate Atrophy (D015799) Child1
..expandHistiocytic Dermatoarthritis (C564183)
..expandHyperopia, High (C565497)
..expandHypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..expandIris Pigment Epithelium Anomalies (C566651)
..expandJoubert Syndrome 8 (C567358)
..expandLeber Congenital Amaurosis (D057130) Child20
..expandMacular Dystrophy, X-Linked (C564110)
..expandMegalocornea (C562829)
..expandMicrocephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..expandMydriasis, Congenital (C563221)
..expandNight blindness, congenital stationary (C536122) Child4
..expandNight Blindness, Congenital Stationary, Autosomal Dominant 1 (C566474)
..expandNight Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
..expandNight Blindness, Congenital Stationary, Autosomal Dominant 3 (C566475)
..expandOmphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..expandOphthalmomandibulomelic Dysplasia (C563501)
..expandOptic Atrophies, Hereditary (D015418) Child30
..expandPeripapillary Atrophy, Beta Type (C566898)
..expandPersistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..expandPigmented Paravenous Chorioretinal Atrophy (C566801)
..expandProlonged Electroretinal Response Suppression (C564243)
..expandPseudoglaucoma (C566748)
..expandPseudopapilledema (C562401)
..expandRetinal Aplasia (C566720)
..expandRetinal Dysplasia (D015792) Child2
..expandRetinal Dystrophy, Early Onset Severe (C565741)
..expandRetinitis Pigmentosa (D012174) Child132
..expandRetinohepatoendocrinologic Syndrome (C564839)
..expandRhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
..expandSpondyloocular Syndrome, Autosomal Recessive (C565285)
..expandStickler Syndrome, Type I, Nonsyndromic Ocular (C563709)
..expandVascular Hyalinosis (C564750)
..expandVitelliform Macular Dystrophy (D057826) Child2
..expandVitreoretinochoroidopathy (C536352)
..expandVitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..expandWalker-Warburg Syndrome (D058494) Child7
..expandWeill-Marchesani Syndrome (D056846)
..expandWeill-Marchesani-Like Syndrome (C567710)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1832
Name:Cataract, Congenital Nuclear, Autosomal Recessive 3
Definition:
Alternative IDs:OMIM:611544
ParentIDs:MESH:D002386|MESH:D015785
TreeNumbers:C11.270/C566923 |C11.510.245/C566923 |C16.320.290/C566923
Synonyms:CATARACT 17, MULTIPLE TYPES |CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 |CATCN3 |CTRCT17
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C566923
MeSH: C566923
OMIM: 611544;

Genes: CRYBB1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000646AmblyopiaHP:0040283
4 HP:0000519Developmental cataract
5 HP:0000482MicrocorneaHP:0040283
6 HP:0100018Nuclear cataract
7 HP:0000639Nystagmus
8 HP:0010693Pulverulent cataract
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001887.3(CRYBB1):c.658G>T (p.Gly220Ter)1414CRYBB1Pathogenic74315488RCV000009224; NMedGen:C1969062,OMIM:611544222699555526995555NM_001887.3:c.658G>TNP_001878.1:p.Gly220TerNC_000022.10:g.26995555C>AOMIM Allelic Variant:600929.0001C1969062 611544 Cataract, congenital nuclear, autosomal recessive 3