MCID: ANT070
MIFTS: 18

Anterior Segment Dysgenesis 6, Multiple Subtypes

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

Aliases & Classifications for Anterior Segment Dysgenesis 6, Multiple Subtypes

MalaCards integrated aliases for Anterior Segment Dysgenesis 6, Multiple Subtypes:

Name: Anterior Segment Dysgenesis 6, Multiple Subtypes 54
Anterior Segment Dysgenesis 6 71 29
Asgd6 71

Characteristics:

HPO:

32
anterior segment dysgenesis 6, multiple subtypes:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 6, Multiple Subtypes

UniProtKB/Swiss-Prot : 71 Anterior segment dysgenesis 6: 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. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood.

MalaCards based summary : Anterior Segment Dysgenesis 6, Multiple Subtypes, is also known as anterior segment dysgenesis 6, and has symptoms including corneal opacity, corneal neovascularization and congenital glaucoma. An important gene associated with Anterior Segment Dysgenesis 6, Multiple Subtypes is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1). 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). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD6 have been reported with the Peters anomaly subtype. Peters anomaly consists of corneal opacity, defects in the posterior structures of the cornea, and iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood (summary by Vincent et al., 2001). (617315)

Related Diseases for Anterior Segment Dysgenesis 6, Multiple Subtypes

Symptoms & Phenotypes for Anterior Segment Dysgenesis 6, Multiple Subtypes

Clinical features from OMIM:

617315

Human phenotypes related to Anterior Segment Dysgenesis 6, Multiple Subtypes:

32
id Description HPO Frequency HPO Source Accession
1 corneal opacity 32 HP:0007957
2 corneal neovascularization 32 HP:0011496
3 congenital glaucoma 32 HP:0001087
4 abnormality of descemet's membrane 32 HP:0011490
5 posterior synechiae of the anterior chamber 32 HP:0011484

Drugs & Therapeutics for Anterior Segment Dysgenesis 6, Multiple Subtypes

Search Clinical Trials , NIH Clinical Center for Anterior Segment Dysgenesis 6, Multiple Subtypes

Genetic Tests for Anterior Segment Dysgenesis 6, Multiple Subtypes

Genetic tests related to Anterior Segment Dysgenesis 6, Multiple Subtypes:

id Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 6 29

Anatomical Context for Anterior Segment Dysgenesis 6, Multiple Subtypes

MalaCards organs/tissues related to Anterior Segment Dysgenesis 6, Multiple Subtypes:

39
Eye

Publications for Anterior Segment Dysgenesis 6, Multiple Subtypes

Variations for Anterior Segment Dysgenesis 6, Multiple Subtypes

ClinVar genetic disease variations for Anterior Segment Dysgenesis 6, Multiple Subtypes:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP1B1 NM_000104.3(CYP1B1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs72549389 GRCh37 Chromosome 2, 38302530: 38302530
2 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361

Expression for Anterior Segment Dysgenesis 6, Multiple Subtypes

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 6, Multiple Subtypes.

Pathways for Anterior Segment Dysgenesis 6, Multiple Subtypes

GO Terms for Anterior Segment Dysgenesis 6, Multiple Subtypes

Sources for Anterior Segment Dysgenesis 6, Multiple Subtypes

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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