MCID: ANT067
MIFTS: 18

Anterior Segment Dysgenesis 8

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Anterior Segment Dysgenesis 8

MalaCards integrated aliases for Anterior Segment Dysgenesis 8:

Name: Anterior Segment Dysgenesis 8 54 71
Asgd8 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
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 hypoplasia of the iris. An important gene associated with Anterior Segment Dysgenesis 8 is CPAMD8 (C3 And PZP Like, Alpha-2-Macroglobulin Domain Containing 8). The drugs Ranibizumab and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include eye.

OMIM : 54
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

Diseases in the Anterior Segment Dysgenesis 4 family:

Anterior Segment Dysgenesis 8

Symptoms & Phenotypes for Anterior Segment Dysgenesis 8

Symptoms via clinical synopsis from OMIM:

54

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 7)
id Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 ectopia lentis 32 HP:0001083
3 hypoplasia of the iris 32 HP:0007676
4 iridodonesis 32 HP:0100693
5 ectopia pupillae 32 HP:0009918
6 uveal ectropion 32 HP:0025358
7 iris transillumination defect 32 HP:0012805

Drugs & Therapeutics for Anterior Segment Dysgenesis 8

Drugs for Anterior Segment Dysgenesis 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 2 347396-82-1 459903
2
Bevacizumab Approved, Investigational Phase 2 216974-75-3
3 Angiogenesis Inhibitors Phase 2
4 Angiogenesis Modulating Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Phase 2, Multi-Center Study To Compare The Efficacy And Safety Of A Chemokine CCR2/5 Receptor Antagonist With Ranibizumab In Adults With Diabetic Macular Edema Terminated NCT01994291 Phase 2 Ranibizumab;Placebo;PF-04634817;Masked Sham Therapy

Search 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:

39
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
id Symbol AA change Variation ID SNP ID
1 CPAMD8 p.Ser1404Pro VAR_077933

ClinVar genetic disease variations for Anterior Segment Dysgenesis 8:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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