MCID: ANT067
MIFTS: 18

Anterior Segment Dysgenesis 8

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

Aliases & Classifications for Anterior Segment Dysgenesis 8

MalaCards integrated aliases for Anterior Segment Dysgenesis 8:

Name: Anterior Segment Dysgenesis 8 57 75 6
Asgd8 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
anterior segment dysgenesis 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 8

UniProtKB/Swiss-Prot : 75 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 cataract and ectopia lentis

OMIM : 57 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:

57
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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 ectopia lentis 32 HP:0001083
3 optic nerve dysplasia 32 occasional (7.5%) HP:0001093
4 hypoplasia of the iris 32 HP:0007676
5 persistent pupillary membrane 32 occasional (7.5%) HP:0009917
6 ectopia pupillae 32 HP:0009918
7 microphakia 32 occasional (7.5%) HP:0012376
8 iris transillumination defect 32 HP:0012805
9 uveal ectropion 32 HP:0025358
10 iridodonesis 32 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:

41
Eye

Publications for Anterior Segment Dysgenesis 8

Variations for Anterior Segment Dysgenesis 8

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

75
# 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_015692.3(CPAMD8): c.4351T> C (p.Ser1451Pro) 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_015692.3(CPAMD8): c.4549-1G> A single nucleotide variant Pathogenic rs369858688 GRCh38 Chromosome 19, 16903624: 16903624
6 CPAMD8 NM_015692.3(CPAMD8): c.4549-1G> 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 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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