Disease Browser
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Parent Node: Cataract (D002386) | Parent Node: Eye Diseases, Hereditary (D015785) | ..Starting node ..Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
| Child Nodes:
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Sister Nodes: | ..Achromatopsia 4 (C564206)
| ..Achromatopsia 5 (C567759)
| ..Acrootoocular Syndrome (C564866)
| ..Aicardi Syndrome (D058540) 1
| ..Alacrima (C562827)
| ..Alacrima, Congenital (C566307)
| ..Albinism (D000417) 30
| ..Aniridia (D015783) 10
| ..Ataxia-Microcephaly-Cataract Syndrome (C563086)
| ..Basal Laminar Drusen (C563034)
| ..Bestrophinopathy (C567518)
| ..Bothnia Retinal Dystrophy (C564392)
| ..Cataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
| ..Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
| ..Cataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
| ..Cataract, Floriform (C566160)
| ..Cataract, Pulverulent (C563426)
| ..Cavitary Optic Disc Anomalies (C566924)
| ..Cholestasis with Gallstone, Ataxia, and Visual Disturbance (C565856)
| ..Choroideremia (D015794) 2
| ..Congenital Fibrosis of the Extraocular Muscles (C580012)
| ..Cornea Plana 1 (C565158)
| ..Cornea Plana 2 (C565677)
| ..Corneal Dystrophies, Hereditary (D003317) 61
| ..CSNB1C (C567704)
| ..Drusen, Radial, Autosomal Dominant (C565088)
| ..Duane Retraction Syndrome (D004370) 2
| ..Enhanced S-Cone Syndrome (C564835)
| ..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
| ..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
| ..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
| ..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
| ..Fleck Retina, Familial Benign (C565564)
| ..Foveal Hypoplasia with Anterior Segment Anomalies (C565006)
| ..Foveal Hypoplasia, Isolated (C565005)
| ..Graves Ophthalmopathy (D049970)
| ..Grouped Pigmentation of the Macula (C565530)
| ..Gyrate Atrophy (D015799) 1
| ..Histiocytic Dermatoarthritis (C564183)
| ..Hyperopia, High (C565497)
| ..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
| ..Iris Pigment Epithelium Anomalies (C566651)
| ..Joubert Syndrome 8 (C567358)
| ..Leber Congenital Amaurosis (D057130) 20
| ..Macular Dystrophy, X-Linked (C564110)
| ..Megalocornea (C562829)
| ..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
| ..Mydriasis, Congenital (C563221)
| ..Night blindness, congenital stationary (C536122) 4
| ..Night Blindness, Congenital Stationary, Autosomal Dominant 1 (C566474)
| ..Night Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
| ..Night Blindness, Congenital Stationary, Autosomal Dominant 3 (C566475)
| ..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
| ..Ophthalmomandibulomelic Dysplasia (C563501)
| ..Optic Atrophies, Hereditary (D015418) 30
| ..Peripapillary Atrophy, Beta Type (C566898)
| ..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
| ..Pigmented Paravenous Chorioretinal Atrophy (C566801)
| ..Prolonged Electroretinal Response Suppression (C564243)
| ..Pseudoglaucoma (C566748)
| ..Pseudopapilledema (C562401)
| ..Retinal Aplasia (C566720)
| ..Retinal Dysplasia (D015792) 2
| ..Retinal Dystrophy, Early Onset Severe (C565741)
| ..Retinitis Pigmentosa (D012174) 132
| ..Retinohepatoendocrinologic Syndrome (C564839)
| ..Rhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
| ..Spondyloocular Syndrome, Autosomal Recessive (C565285)
| ..Stickler Syndrome, Type I, Nonsyndromic Ocular (C563709)
| ..Vascular Hyalinosis (C564750)
| ..Vitelliform Macular Dystrophy (D057826) 2
| ..Vitreoretinochoroidopathy (C536352)
| ..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
| ..Walker-Warburg Syndrome (D058494) 7
| ..Weill-Marchesani Syndrome (D056846)
| ..Weill-Marchesani-Like Syndrome (C567710)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 1831 |
Name: | Cataract, Congenital Nuclear, Autosomal Recessive 2 |
Definition: | |
Alternative IDs: | OMIM:609741 |
ParentIDs: | MESH:D002386|MESH:D015785 |
TreeNumbers: | C11.270/C565725 |C11.510.245/C565725 |C16.320.290/C565725 |
Synonyms: | CATARACT 22, MULTIPLE TYPES |CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 |CATCN2 |CTRCT22 |
Slim Mappings: | Eye disease|Genetic disease (inborn) |
Reference: |
MedGen: C565725
MeSH: C565725
OMIM: 609741;
Genes: CRYBB3; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004076.4(CRYBB3):c.493G>C (p.Gly165Arg) | 1417 | CRYBB3 | Pathogenic | 74315490 | RCV000018457; RCV000203352; | N | Human Phenotype Ontology:HP:0000519,Human Phenotype Ontology:HP:0001108,Human Phenotype Ontology:HP:0007679,Human Phenotype Ontology:HP:0007726,Human Phenotype Ontology:HP:0007788,MedGen:C1842324; MedGen:C1857853,OMIM:609741 | 22 | 25603036 | 25603036 | NM_004076.4:c.493G>C | NP_004067.1:p.Gly165Arg | NC_000022.10:g.25603036G>C | OMIM Allelic Variant:123630.0001 | C1857853 609741 Cataract, congenital nuclear, autosomal recessive 2; C1842324 Congenital cataract | | | NM_004076.4(CRYBB3):c.581T>A (p.Val194Glu) | 1417 | CRYBB3 | Pathogenic | 587777601 | RCV000132765; | N | MedGen:C1857853,OMIM:609741 | 22 | 25603124 | 25603124 | NM_004076.4:c.581T>A | NP_004067.1:p.Val194Glu | 22:g.25603124T>A | OMIM Allelic Variant:123630.0002 | C1857853 609741 Cataract, congenital nuclear, autosomal recessive 2 | | |
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