MCID: ANT067
MIFTS: 18

Anterior Segment Dysgenesis 8

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

Aliases & Classifications for Anterior Segment Dysgenesis 8

MalaCards integrated aliases for Anterior Segment Dysgenesis 8:

Name: Anterior Segment Dysgenesis 8 53 71
Asgd8 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
anterior segment dysgenesis 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 8

UniProtKB/Swiss-Prot : 71 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, and has symptoms including cataract, ectopia lentis and optic nerve dysplasia. 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.

OMIM : 53 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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cataracts, multiple types
ectopia lentis
microphakia (in some patients)
corectopia
ectropion uveae
more

Clinical features from OMIM:

617319

Human phenotypes related to Anterior Segment Dysgenesis 8:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 ectopia lentis 31 HP:0001083
3 optic nerve dysplasia 31 occasional (7.5%) HP:0001093
4 hypoplasia of the iris 31 HP:0007676
5 persistent pupillary membrane 31 occasional (7.5%) HP:0009917
6 ectopia pupillae 31 HP:0009918
7 microphakia 31 occasional (7.5%) HP:0012376
8 iris transillumination defect 31 HP:0012805
9 uveal ectropion 31 HP:0025358
10 iridodonesis 31 HP:0100693

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:

38
Eye

Publications for Anterior Segment Dysgenesis 8

Variations for Anterior Segment Dysgenesis 8

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

71
# 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_015692.3(CPAMD8): c.4351T> C (p.Ser1451Pro) single nucleotide variant Pathogenic rs1057519340 GRCh38 Chromosome 19, 16904267: 16904267
2 CPAMD8 NM_015692.2(CPAMD8): c.2352dupC (p.Arg785Glnfs) duplication Pathogenic rs756064750 GRCh38 Chromosome 19, 16970893: 16970893
3 CPAMD8 NM_015692.3(CPAMD8): c.4549-1G> A single nucleotide variant Pathogenic rs369858688 GRCh38 Chromosome 19, 16903624: 16903624

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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