ASGD3
MCID: IRD007
MIFTS: 23

Iridogoniodysgenesis, Type 1 (ASGD3) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Iridogoniodysgenesis, Type 1

About this section

Aliases & Descriptions for Iridogoniodysgenesis, Type 1:

Name: Iridogoniodysgenesis, Type 1 52 24 70 12 68
Iris Hypoplasia with Glaucoma 70 27
Iris Hypoplasia and Glaucoma 52 48
Irid1 24 70
Iridogoniodysgenesis Anomaly, Autosomal Dominant 70
Glaucoma Iridogoniodysplasia, Familial 70
 
Anterior Segment Dysgenesis 3 70
Iridogoniodysgenesis Anomaly 70
Asgd3 70
Igda 70
Ihg 48

Characteristics:

HPO:

64
Inheritance: x-linked inheritance
iridogoniodysgenesis, type 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 601631
MeSH39 D005124

Summaries for Iridogoniodysgenesis, Type 1

About this section
UniProtKB/Swiss-Prot:70 Anterior segment dysgenesis 3: 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. ASGD3 inheritance is autosomal dominant.

MalaCards based summary: Iridogoniodysgenesis, Type 1, also known as iris hypoplasia with glaucoma, is related to iridogoniodysgenesis, type 2 and interstitial granulomatous dermatitis with arthritis, and has symptoms including glaucoma, hypoplasia of the iris and cerebellar vermis hypoplasia. An important gene associated with Iridogoniodysgenesis, Type 1 is FOXC1 (Forkhead Box C1). Affiliated tissues include eye.

OMIM:52 Autosomal dominant iridogoniodysgenesis type 1, which is characterized by iris hypoplasia, goniodysgenesis, and... (601631) more...

Related Diseases for Iridogoniodysgenesis, Type 1

About this section

Diseases in the Iridogoniodysgenesis, Type 1 family:

Iridogoniodysgenesis, Type 2

Diseases related to Iridogoniodysgenesis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1iridogoniodysgenesis, type 211.7
2interstitial granulomatous dermatitis with arthritis10.9
3iris hypoplasia9.8

Symptoms & Phenotypes for Iridogoniodysgenesis, Type 1

About this section

Symptoms by clinical synopsis from OMIM:

601631

Clinical features from OMIM:

601631

Human phenotypes related to Iridogoniodysgenesis, Type 1:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 glaucoma64 HP:0000501
2 hypoplasia of the iris64 HP:0007676
3 cerebellar vermis hypoplasia64 HP:0001320
4 enlarged cisterna magna64 HP:0002280
5 abnormal iris vasculature64 HP:0007905
6 hypoplastic iris stroma64 HP:0007990

Drugs & Therapeutics for Iridogoniodysgenesis, Type 1

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Iridogoniodysgenesis, Type 1

Genetic Tests for Iridogoniodysgenesis, Type 1

About this section

Genetic tests related to Iridogoniodysgenesis, Type 1:

id Genetic test Affiliating Genes
1 Iris Hypoplasia and Glaucoma27
2 Iridogoniodysgenesis, Type 124 FOXC1

Anatomical Context for Iridogoniodysgenesis, Type 1

About this section

MalaCards organs/tissues related to Iridogoniodysgenesis, Type 1:

36
Eye

Publications for Iridogoniodysgenesis, Type 1

About this section

Variations for Iridogoniodysgenesis, Type 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Iridogoniodysgenesis, Type 1:

70
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815rs104893951
2FOXC1p.Ile126MetVAR_007816rs104893958
3FOXC1p.Ser131LeuVAR_007817rs104893957
4FOXC1p.Met161LysVAR_018150
5FOXC1p.Met109ValVAR_078502
6FOXC1p.Ser131TrpVAR_078506
7FOXC1p.Lys138GluVAR_078508
8FOXC1p.Trp152GlyVAR_078509
9FOXC1p.Pro297SerVAR_078511

Clinvar genetic disease variations for Iridogoniodysgenesis, Type 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FOXC1FOXC1, 11-BP DELdeletionPathogenic
2FOXC1NM_ 001453.2(FOXC1): c.392C> T (p.Ser131Leu)SNVPathogenicrs104893957GRCh37Chr 6, 1611072: 1611072
3FOXC1NM_ 001453.2(FOXC1): c.378C> G (p.Ile126Met)SNVPathogenicrs104893958GRCh37Chr 6, 1611058: 1611058
4FOXC1FOXC1, DUPduplicationPathogenic
5FOXC1FOXC1, 22-BP INS, NT26insertionPathogenic
6FOXC1NM_ 001453.2(FOXC1): c.261C> G (p.Ile87Met)SNVPathogenicrs104893954GRCh37Chr 6, 1610941: 1610941

Expression for genes affiliated with Iridogoniodysgenesis, Type 1

About this section
Search GEO for disease gene expression data for Iridogoniodysgenesis, Type 1.

Pathways for genes affiliated with Iridogoniodysgenesis, Type 1

About this section

GO Terms for genes affiliated with Iridogoniodysgenesis, Type 1

About this section

Sources for Iridogoniodysgenesis, Type 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet