ASGD8
MCID: ANT067
MIFTS: 18

Anterior Segment Dysgenesis 8 (ASGD8)

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

Aliases & Classifications for Anterior Segment Dysgenesis 8

MalaCards integrated aliases for Anterior Segment Dysgenesis 8:

Name: Anterior Segment Dysgenesis 8 58 76 6
Asgd8 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
anterior segment dysgenesis 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 8

UniProtKB/Swiss-Prot : 76 Anterior segment dysgenesis 8: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra- ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Anterior Segment Dysgenesis 8, is also known as asgd8. An important gene associated with Anterior Segment Dysgenesis 8 is CPAMD8 (C3 And PZP Like Alpha-2-Macroglobulin Domain Containing 8). Affiliated tissues include eye, and related phenotypes are microphakia and persistent pupillary membrane

OMIM : 58 Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). (617319)

Related Diseases for Anterior Segment Dysgenesis 8

Symptoms & Phenotypes for Anterior Segment Dysgenesis 8

Human phenotypes related to Anterior Segment Dysgenesis 8:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microphakia 33 occasional (7.5%) HP:0012376
2 persistent pupillary membrane 33 occasional (7.5%) HP:0009917
3 optic nerve dysplasia 33 occasional (7.5%) HP:0001093
4 cataract 33 HP:0000518
5 ectopia lentis 33 HP:0001083
6 hypoplasia of the iris 33 HP:0007676
7 ectopia pupillae 33 HP:0009918
8 iridodonesis 33 HP:0100693
9 uveal ectropion 33 HP:0025358
10 iris transillumination defect 33 HP:0012805

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ectopia lentis
iridodonesis
cataracts, multiple types
iris hypoplasia
corectopia
more

Clinical features from OMIM:

617319

Drugs & Therapeutics for Anterior Segment Dysgenesis 8

Search Clinical Trials , NIH Clinical Center for Anterior Segment Dysgenesis 8

Genetic Tests for Anterior Segment Dysgenesis 8

Anatomical Context for Anterior Segment Dysgenesis 8

MalaCards organs/tissues related to Anterior Segment Dysgenesis 8:

42
Eye

Publications for Anterior Segment Dysgenesis 8

Articles related to Anterior Segment Dysgenesis 8:

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

Variations for Anterior Segment Dysgenesis 8

UniProtKB/Swiss-Prot genetic disease variations for Anterior Segment Dysgenesis 8:

76
# Symbol AA change Variation ID SNP ID
1 CPAMD8 p.Ser1404Pro VAR_077933

ClinVar genetic disease variations for Anterior Segment Dysgenesis 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CPAMD8 NM_015692.4(CPAMD8): c.4210T> C (p.Ser1404Pro) single nucleotide variant Pathogenic rs1057519340 GRCh38 Chromosome 19, 16904267: 16904267
2 CPAMD8 NM_015692.4(CPAMD8): c.4210T> C (p.Ser1404Pro) single nucleotide variant Pathogenic rs1057519340 GRCh37 Chromosome 19, 17015077: 17015077
3 CPAMD8 NM_015692.2(CPAMD8): c.2352dupC (p.Arg785Glnfs) duplication Pathogenic rs756064750 GRCh38 Chromosome 19, 16970893: 16970893
4 CPAMD8 NM_015692.2(CPAMD8): c.2352dupC (p.Arg785Glnfs) duplication Pathogenic rs756064750 GRCh37 Chromosome 19, 17081703: 17081703
5 CPAMD8 NM_015692.4(CPAMD8): c.4408-1G> A single nucleotide variant Pathogenic rs369858688 GRCh38 Chromosome 19, 16903624: 16903624
6 CPAMD8 NM_015692.4(CPAMD8): c.4408-1G> A single nucleotide variant Pathogenic rs369858688 GRCh37 Chromosome 19, 17014434: 17014434

Expression for Anterior Segment Dysgenesis 8

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 8.

Pathways for Anterior Segment Dysgenesis 8

GO Terms for Anterior Segment Dysgenesis 8

Sources for Anterior Segment Dysgenesis 8

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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