ASGD8
MCID: ANT067
MIFTS: 25

Anterior Segment Dysgenesis 8 (ASGD8)

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

Aliases & Classifications for Anterior Segment Dysgenesis 8

MalaCards integrated aliases for Anterior Segment Dysgenesis 8:

Name: Anterior Segment Dysgenesis 8 57 12 72 29 6
Asgd8 57 72
Autosomal Recessive Anterior Segment Dysgenesis 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
anterior segment dysgenesis 8:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080613
OMIM® 57 617319
OMIM Phenotypic Series 57 PS107250
MeSH 44 D005124
ICD10 via Orphanet 33 Q13.8
Orphanet 58 ORPHA519388

Summaries for Anterior Segment Dysgenesis 8

UniProtKB/Swiss-Prot : 72 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, also known as asgd8, is related to anterior segment dysgenesis 1 and anterior segment dysgenesis 4. 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 persistent pupillary membrane and optic nerve dysplasia

Disease Ontology : 12 An anterior segment dysgenesis that has material basis in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13.

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) (Updated 20-May-2021)

Related Diseases for Anterior Segment Dysgenesis 8

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis 8:



Diseases related to Anterior Segment Dysgenesis 8

Symptoms & Phenotypes for Anterior Segment Dysgenesis 8

Human phenotypes related to Anterior Segment Dysgenesis 8:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ectopia lentis
iridodonesis
cataracts, multiple types
iris hypoplasia
corectopia
more

Clinical features from OMIM®:

617319 (Updated 20-May-2021)

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

Genetic tests related to Anterior Segment Dysgenesis 8:

# Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 8 29 CPAMD8

Anatomical Context for Anterior Segment Dysgenesis 8

MalaCards organs/tissues related to Anterior Segment Dysgenesis 8:

40
Eye

Publications for Anterior Segment Dysgenesis 8

Articles related to Anterior Segment Dysgenesis 8:

# Title Authors PMID Year
1
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. 57 6 61
27839872 2016

Variations for Anterior Segment Dysgenesis 8

ClinVar genetic disease variations for Anterior Segment Dysgenesis 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPAMD8 NM_015692.5(CPAMD8):c.2211dup (p.Arg738fs) Duplication Pathogenic 375310 rs756064750 GRCh37: 19:17081702-17081703
GRCh38: 19:16970892-16970893
2 CPAMD8 NM_015692.5(CPAMD8):c.4408-1G>A SNV Pathogenic 375311 rs369858688 GRCh37: 19:17014434-17014434
GRCh38: 19:16903624-16903624
3 CPAMD8 NM_015692.5(CPAMD8):c.4210T>C (p.Ser1404Pro) SNV Pathogenic 375309 rs1057519340 GRCh37: 19:17015077-17015077
GRCh38: 19:16904267-16904267
4 CPAMD8 NM_015692.5(CPAMD8):c.1689C>A (p.Tyr563Ter) SNV Pathogenic 998380 GRCh37: 19:17088247-17088247
GRCh38: 19:16977437-16977437
5 CPAMD8 NM_015692.5(CPAMD8):c.2514C>A (p.Tyr838Ter) SNV Pathogenic 1033789 GRCh37: 19:17058032-17058032
GRCh38: 19:16947222-16947222
6 CPAMD8 NM_015692.5(CPAMD8):c.2532del (p.Lys845fs) Deletion Pathogenic 1033790 GRCh37: 19:17058014-17058014
GRCh38: 19:16947204-16947204
7 CPAMD8 NM_015692.5(CPAMD8):c.5658A>G (p.Ter1886=) SNV Pathogenic 1033791 GRCh37: 19:17003919-17003919
GRCh38: 19:16893108-16893108
8 CPAMD8 NM_015692.5(CPAMD8):c.1916A>G (p.Gln639Arg) SNV Uncertain significance 1027996 GRCh37: 19:17086061-17086061
GRCh38: 19:16975251-16975251
9 CPAMD8 NM_015692.5(CPAMD8):c.173G>T (p.Arg58Met) SNV Uncertain significance 1027997 GRCh37: 19:17132911-17132911
GRCh38: 19:17022101-17022101

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

72
# Symbol AA change Variation ID SNP ID
1 CPAMD8 p.Ser1404Pro VAR_077933 rs105751934

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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