ASGD6
MCID: ANT087
MIFTS: 21

Anterior Segment Dysgenesis 6 (ASGD6)

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

Aliases & Classifications for Anterior Segment Dysgenesis 6

MalaCards integrated aliases for Anterior Segment Dysgenesis 6:

Name: Anterior Segment Dysgenesis 6 56 73 29 6
Anterior Segment Dysgenesis 6, Multiple Subtypes 56 29
Asgd6 56 73

Characteristics:

HPO:

31
anterior segment dysgenesis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 617315
OMIM Phenotypic Series 56 PS107250
MeSH 43 D005124

Summaries for Anterior Segment Dysgenesis 6

UniProtKB/Swiss-Prot : 73 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, is also known as anterior segment dysgenesis 6, multiple subtypes. An important gene associated with Anterior Segment Dysgenesis 6 is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1). Affiliated tissues include eye, and related phenotypes are corneal opacity and corneal neovascularization

OMIM : 56 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

Symptoms & Phenotypes for Anterior Segment Dysgenesis 6

Human phenotypes related to Anterior Segment Dysgenesis 6:

31
# Description HPO Frequency HPO Source Accession
1 corneal opacity 31 HP:0007957
2 corneal neovascularization 31 HP:0011496
3 posterior synechiae of the anterior chamber 31 HP:0011484
4 developmental glaucoma 31 HP:0001087
5 abnormal descemet membrane morphology 31 HP:0011490

Clinical features from OMIM:

617315

Drugs & Therapeutics for Anterior Segment Dysgenesis 6

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

Genetic Tests for Anterior Segment Dysgenesis 6

Genetic tests related to Anterior Segment Dysgenesis 6:

# Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 6 29 CYP1B1
2 Anterior Segment Dysgenesis 6, Multiple Subtypes 29

Anatomical Context for Anterior Segment Dysgenesis 6

MalaCards organs/tissues related to Anterior Segment Dysgenesis 6:

40
Eye

Publications for Anterior Segment Dysgenesis 6

Articles related to Anterior Segment Dysgenesis 6:

# Title Authors PMID Year
1
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. 56 6
11403040 2001
2
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. 56
27839872 2016
3
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 56
12015278 2002

Variations for Anterior Segment Dysgenesis 6

ClinVar genetic disease variations for Anterior Segment Dysgenesis 6:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP1B1 NM_000104.3(CYP1B1):c.2T>C (p.Met1Thr)SNV Pathogenic 7736 rs72549389 2:38302530-38302530 2:38075387-38075387
2 CYP1B1 NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu)SNV Pathogenic 7730 rs28936700 2:38302350-38302350 2:38075207-38075207
3 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter)SNV Pathogenic 7737 rs72549387 2:38302361-38302361 2:38075218-38075218

Expression for Anterior Segment Dysgenesis 6

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

Pathways for Anterior Segment Dysgenesis 6

GO Terms for Anterior Segment Dysgenesis 6

Sources for Anterior Segment Dysgenesis 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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