MCID: ATS413
MIFTS: 13

Autosomal Recessive Anterior Segment Dysgenesis

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Anterior Segment Dysgenesis

MalaCards integrated aliases for Autosomal Recessive Anterior Segment Dysgenesis:

Name: Autosomal Recessive Anterior Segment Dysgenesis 59

Classifications:



External Ids:

Orphanet 59 ORPHA519388

Summaries for Autosomal Recessive Anterior Segment Dysgenesis

MalaCards based summary : Autosomal Recessive Anterior Segment Dysgenesis is related to anterior segment dysgenesis. An important gene associated with Autosomal Recessive Anterior Segment Dysgenesis is CPAMD8 (C3 And PZP Like, Alpha-2-Macroglobulin Domain Containing 8). Affiliated tissues include eye.

Related Diseases for Autosomal Recessive Anterior Segment Dysgenesis

Diseases in the Anterior Segment Dysgenesis family:

Anterior Segment Dysgenesis 1 Anterior Segment Dysgenesis 4
Anterior Segment Dysgenesis 7 Anterior Segment Dysgenesis 3
Anterior Segment Dysgenesis 5 Anterior Segment Dysgenesis 2
Anterior Segment Dysgenesis 6 Anterior Segment Dysgenesis 8
Autosomal Recessive Anterior Segment Dysgenesis

Diseases related to Autosomal Recessive Anterior Segment Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 29.7 A2M CPAMD8

Symptoms & Phenotypes for Autosomal Recessive Anterior Segment Dysgenesis

Drugs & Therapeutics for Autosomal Recessive Anterior Segment Dysgenesis

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Anterior Segment Dysgenesis

Genetic Tests for Autosomal Recessive Anterior Segment Dysgenesis

Anatomical Context for Autosomal Recessive Anterior Segment Dysgenesis

MalaCards organs/tissues related to Autosomal Recessive Anterior Segment Dysgenesis:

41
Eye

Publications for Autosomal Recessive Anterior Segment Dysgenesis

Articles related to Autosomal Recessive Anterior Segment Dysgenesis:

# Title Authors Year
1
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. ( 27839872 )
2016

Variations for Autosomal Recessive Anterior Segment Dysgenesis

Expression for Autosomal Recessive Anterior Segment Dysgenesis

Search GEO for disease gene expression data for Autosomal Recessive Anterior Segment Dysgenesis.

Pathways for Autosomal Recessive Anterior Segment Dysgenesis

GO Terms for Autosomal Recessive Anterior Segment Dysgenesis

Biological processes related to Autosomal Recessive Anterior Segment Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 8.96 A2M CPAMD8
2 negative regulation of peptidase activity GO:0010466 8.62 A2M CPAMD8

Molecular functions related to Autosomal Recessive Anterior Segment Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.16 A2M CPAMD8
2 serine-type endopeptidase inhibitor activity GO:0004867 8.96 A2M CPAMD8
3 endopeptidase inhibitor activity GO:0004866 8.62 A2M CPAMD8

Sources for Autosomal Recessive Anterior Segment Dysgenesis

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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