CTRCT29
MCID: CTR169
MIFTS: 25

Cataract 29 (CTRCT29)

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

Aliases & Classifications for Cataract 29

MalaCards integrated aliases for Cataract 29:

Name: Cataract 29 58 12 74
Cataract 29, Coralliform 58
Cataract 29 Coralliform 12
Coralliform Cataract 60
Ctrct29 58

Characteristics:

Orphanet epidemiological data:

60
coralliform cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 29:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110232
OMIM 58 115800
ICD10 34 Q12.0
ICD10 via Orphanet 35 Q12.0
Orphanet 60 ORPHA98990
UMLS 74 C3805409

Summaries for Cataract 29

OMIM : 58 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 and cataract 14, multiple types. 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

Human phenotypes related to Cataract 29:

33
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518

Symptoms via clinical synopsis from OMIM:

58
Eyes:
crystalline coralliform cataract
fine crystals in axial lens region

Clinical features from OMIM:

115800

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:

42
Eye

Publications for Cataract 29

Articles related to Cataract 29:

# 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
A novel locus of coralliform cataract mapped to chromosome 2p24-pter. ( 15933805 )
2005
6
[Localization and screening of autosomal dominant coralliform cataract associated gene]. ( 14767902 )
2004
7
Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene. ( 15161542 )
2004
8
Familial congenital coralliform cataract. ( 4429121 )
1974
9
Sections of Coralliform Cataract, and a Microscopic Specimen of Vitreous Humor from Asteroid Hyalitis. ( 16692552 )
1921
10
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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