MCID: SCL053
MIFTS: 12

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 56
Isolated Congenital Sclerocornea 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant form


HPO:

31
sclerocornea, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 181700
ICD10 via Orphanet 33 Q13.3
UMLS via Orphanet 72 C1866984
Orphanet 58 ORPHA91490
MedGen 41 C1866984
SNOMED-CT via HPO 68 263681008

Summaries for Sclerocornea, Autosomal Dominant

OMIM : 56 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 11.4

Symptoms & Phenotypes for Sclerocornea, Autosomal Dominant

Human phenotypes related to Sclerocornea, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 sclerocornea 31 HP:0000647

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye

Publications for Sclerocornea, Autosomal Dominant

Articles related to Sclerocornea, Autosomal Dominant:

# Title Authors PMID Year
1
Hereditary sclerocornea. 56
3994576 1985

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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