MCID: SCL053
MIFTS: 13

Sclerocornea, Autosomal Dominant

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sclerocornea, Autosomal Dominant

MalaCards integrated aliases for Sclerocornea, Autosomal Dominant:

Name: Sclerocornea, Autosomal Dominant 58
Isolated Congenital Sclerocornea 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant form


HPO:

33
sclerocornea, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 181700
ICD10 via Orphanet 35 Q13.3
UMLS via Orphanet 75 C1866984
Orphanet 60 ORPHA91490
MedGen 43 C1866984
SNOMED-CT via HPO 70 263681008

Summaries for Sclerocornea, Autosomal Dominant

OMIM : 58 Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by Elliott et al., 1985). (181700)

MalaCards based summary : Sclerocornea, Autosomal Dominant, also known as isolated congenital sclerocornea, is related to sclerocornea. An important gene associated with Sclerocornea, Autosomal Dominant is GJA8 (Gap Junction Protein Alpha 8). Affiliated tissues include eye, and related phenotype is sclerocornea.

Related Diseases for Sclerocornea, Autosomal Dominant

Diseases in the Sclerocornea family:

Sclerocornea, Autosomal Dominant

Diseases related to Sclerocornea, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sclerocornea 11.3

Symptoms & Phenotypes for Sclerocornea, Autosomal Dominant

Human phenotypes related to Sclerocornea, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 sclerocornea 33 HP:0000647

Symptoms via clinical synopsis from OMIM:

58
Eyes:
congenital sclerocornea

Clinical features from OMIM:

181700

Drugs & Therapeutics for Sclerocornea, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Sclerocornea, Autosomal Dominant

Genetic Tests for Sclerocornea, Autosomal Dominant

Anatomical Context for Sclerocornea, Autosomal Dominant

MalaCards organs/tissues related to Sclerocornea, Autosomal Dominant:

42
Eye

Publications for Sclerocornea, Autosomal Dominant

Variations for Sclerocornea, Autosomal Dominant

Expression for Sclerocornea, Autosomal Dominant

Search GEO for disease gene expression data for Sclerocornea, Autosomal Dominant.

Pathways for Sclerocornea, Autosomal Dominant

GO Terms for Sclerocornea, Autosomal Dominant

Sources for Sclerocornea, Autosomal Dominant

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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