MCID: ATS413
MIFTS: 14

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 60

Classifications:



External Ids:

Orphanet 60 ORPHA519388

Summaries for Autosomal Recessive Anterior Segment Dysgenesis

MalaCards based summary : Autosomal Recessive Anterior Segment Dysgenesis is related to anterior segment dysgenesis and anterior segment dysgenesis 8. An important gene associated with Autosomal Recessive Anterior Segment Dysgenesis is A2M (Alpha-2-Macroglobulin). 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 29.4 A2M CPAMD8
2 anterior segment dysgenesis 8 10.1

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:

42
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 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
Content
Loading form....