MCID: CTR169
MIFTS: 25

Cataract 29

Categories: Eye diseases, Fetal diseases, Rare diseases, Oral diseases, Genetic diseases, Neuronal diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Cataract 29

MalaCards integrated aliases for Cataract 29:

Name: Cataract 29 57 12 73
Cataract 29, Coralliform 57
Cataract 29 Coralliform 12
Coralliform Cataract 59
Ctrct29 57

Characteristics:

Orphanet epidemiological data:

59
coralliform cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 29:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115800
Disease Ontology 12 DOID:0110232
ICD10 33 Q12.0
Orphanet 59 ORPHA98990
ICD10 via Orphanet 34 Q12.0
UMLS 73 C3805409

Summaries for Cataract 29

OMIM : 57 Coralliform cataracts are characterized by multiple coral-like white opacities that radiate out bilaterally in an axial direction from the center of the lens in a fusiform or spindle-shaped fashion but never actually reach the capsule (summary by Gao et al., 2005). (115800)

MalaCards based summary : Cataract 29, also known as cataract 29, coralliform, is related to cataract. An important gene associated with Cataract 29 is CRYGD (Crystallin Gamma D). Affiliated tissues include eye, and related phenotype is cataract.

Disease Ontology : 12 A cataract that has material basis in variation in the region 2pter-p24.

Related Diseases for Cataract 29

Symptoms & Phenotypes for Cataract 29

Symptoms via clinical synopsis from OMIM:

57
Eyes:
crystalline coralliform cataract
fine crystals in axial lens region


Clinical features from OMIM:

115800

Human phenotypes related to Cataract 29:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518

Drugs & Therapeutics for Cataract 29

Search Clinical Trials , NIH Clinical Center for Cataract 29

Genetic Tests for Cataract 29

Anatomical Context for Cataract 29

MalaCards organs/tissues related to Cataract 29:

41
Eye

Publications for Cataract 29

Articles related to Cataract 29:

(show all 11)
# Title Authors Year
1
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. ( 22312188 )
2012
2
A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families. ( 21552497 )
2011
3
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. ( 19633732 )
2009
4
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract. ( 19668596 )
2009
5
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts. ( 18334953 )
2008
6
A novel locus of coralliform cataract mapped to chromosome 2p24-pter. ( 15933805 )
2005
7
[Localization and screening of autosomal dominant coralliform cataract associated gene]. ( 14767902 )
2004
8
Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene. ( 15161542 )
2004
9
Familial congenital coralliform cataract. ( 4429121 )
1974
10
Sections of Coralliform Cataract, and a Microscopic Specimen of Vitreous Humor from Asteroid Hyalitis. ( 16692552 )
1921
11
Microscopic Findings in a Case of Coralliform Cataract, with Remarks on Congenital Cataracts in General. ( 16692457 )
1918

Variations for Cataract 29

Expression for Cataract 29

Search GEO for disease gene expression data for Cataract 29.

Pathways for Cataract 29

GO Terms for Cataract 29

Sources for Cataract 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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