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 57
Isolated Congenital Sclerocornea 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
sclerocornea, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 181700
ICD10 via Orphanet 34 Q13.3
UMLS via Orphanet 73 C1866984
Orphanet 59 ORPHA91490
MedGen 42 C1866984

Summaries for Sclerocornea, Autosomal Dominant

OMIM : 57 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 and yemenite deaf-blind hypopigmentation syndrome. 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
2 yemenite deaf-blind hypopigmentation syndrome 10.1

Symptoms & Phenotypes for Sclerocornea, Autosomal Dominant

Human phenotypes related to Sclerocornea, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 sclerocornea 32 HP:0000647

Symptoms via clinical synopsis from OMIM:

57
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:

41
Eye

Publications for Sclerocornea, Autosomal Dominant

Articles related to Sclerocornea, Autosomal Dominant:

# Title Authors PMID Year
1
Hereditary sclerocornea. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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