MCID: ANT087
MIFTS: 18

Anterior Segment Dysgenesis 6

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

Aliases & Classifications for Anterior Segment Dysgenesis 6

MalaCards integrated aliases for Anterior Segment Dysgenesis 6:

Name: Anterior Segment Dysgenesis 6 57 75 29 6
Asgd6 57 75
Anterior Segment Dysgenesis 6, Multiple Subtypes 57

Characteristics:

HPO:

32
anterior segment dysgenesis 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 6

UniProtKB/Swiss-Prot : 75 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 asgd6. 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 congenital glaucoma and corneal opacity

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). 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

Clinical features from OMIM:

617315

Human phenotypes related to Anterior Segment Dysgenesis 6:

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

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

Anatomical Context for Anterior Segment Dysgenesis 6

MalaCards organs/tissues related to Anterior Segment Dysgenesis 6:

41
Eye

Publications for Anterior Segment Dysgenesis 6

Variations for Anterior Segment Dysgenesis 6

ClinVar genetic disease variations for Anterior Segment Dysgenesis 6:

6
# 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.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs72549389 GRCh38 Chromosome 2, 38075387: 38075387
3 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
4 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh38 Chromosome 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 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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