ASGD3
MCID: IRD007
MIFTS: 23

Iridogoniodysgenesis, Type 1 (ASGD3) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Iridogoniodysgenesis, Type 1

Aliases & Descriptions for Iridogoniodysgenesis, Type 1:

Name: Iridogoniodysgenesis, Type 1 54 24 66 13 69
Iris Hypoplasia with Glaucoma 66 29
Iris Hypoplasia and Glaucoma 54 50
Irid1 24 66
Iridogoniodysgenesis Anomaly, Autosomal Dominant 66
Glaucoma Iridogoniodysplasia, Familial 66
Anterior Segment Dysgenesis 3 66
Iridogoniodysgenesis Anomaly 66
Asgd3 66
Igda 66
Ihg 50

Characteristics:

HPO:

32
iridogoniodysgenesis, type 1:
Inheritance autosomal dominant inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 601631
MeSH 42 D005124

Summaries for Iridogoniodysgenesis, Type 1

UniProtKB/Swiss-Prot : 66 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 : 54 Autosomal dominant iridogoniodysgenesis type 1, which is characterized by iris hypoplasia, goniodysgenesis, and... (601631) more...

Related Diseases for Iridogoniodysgenesis, Type 1

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:

id Related Disease Score Top Affiliating Genes
1 iridogoniodysgenesis, type 2 11.7
2 interstitial granulomatous dermatitis with arthritis 10.9
3 iris hypoplasia 9.8

Symptoms & Phenotypes for Iridogoniodysgenesis, Type 1

Symptoms by clinical synopsis from OMIM:

601631

Clinical features from OMIM:

601631

Human phenotypes related to Iridogoniodysgenesis, Type 1:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 hypoplasia of the iris 32 HP:0007676
3 cerebellar vermis hypoplasia 32 HP:0001320
4 hypoplastic iris stroma 32 HP:0007990
5 enlarged cisterna magna 32 HP:0002280
6 abnormal iris vasculature 32 HP:0007905

Drugs & Therapeutics for Iridogoniodysgenesis, Type 1

Search Clinical Trials , NIH Clinical Center for Iridogoniodysgenesis, Type 1

Genetic Tests for Iridogoniodysgenesis, Type 1

Genetic tests related to Iridogoniodysgenesis, Type 1:

id Genetic test Affiliating Genes
1 Iris Hypoplasia and Glaucoma 29
2 Iridogoniodysgenesis, Type 1 24 FOXC1

Anatomical Context for Iridogoniodysgenesis, Type 1

MalaCards organs/tissues related to Iridogoniodysgenesis, Type 1:

39
Eye

Publications for Iridogoniodysgenesis, Type 1

Variations for Iridogoniodysgenesis, Type 1

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

66
id Symbol AA change Variation ID SNP ID
1 FOXC1 p.Phe112Ser VAR_007815 rs104893951
2 FOXC1 p.Ile126Met VAR_007816 rs104893958
3 FOXC1 p.Ser131Leu VAR_007817 rs104893957
4 FOXC1 p.Met161Lys VAR_018150
5 FOXC1 p.Met109Val VAR_078502
6 FOXC1 p.Ser131Trp VAR_078506
7 FOXC1 p.Lys138Glu VAR_078508
8 FOXC1 p.Trp152Gly VAR_078509
9 FOXC1 p.Pro297Ser VAR_078511

ClinVar genetic disease variations for Iridogoniodysgenesis, Type 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXC1 FOXC1, 11-BP DEL deletion Pathogenic
2 FOXC1 NM_001453.2(FOXC1): c.392C> T (p.Ser131Leu) single nucleotide variant Pathogenic rs104893957 GRCh37 Chromosome 6, 1611072: 1611072
3 FOXC1 NM_001453.2(FOXC1): c.378C> G (p.Ile126Met) single nucleotide variant Pathogenic rs104893958 GRCh37 Chromosome 6, 1611058: 1611058
4 FOXC1 FOXC1, DUP duplication Pathogenic
5 FOXC1 FOXC1, 22-BP INS, NT26 insertion Pathogenic
6 FOXC1 NM_001453.2(FOXC1): c.261C> G (p.Ile87Met) single nucleotide variant Pathogenic rs104893954 GRCh37 Chromosome 6, 1610941: 1610941

Expression for Iridogoniodysgenesis, Type 1

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

Pathways for Iridogoniodysgenesis, Type 1

GO Terms for Iridogoniodysgenesis, Type 1

Sources for Iridogoniodysgenesis, Type 1

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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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