MCID: IRS009
MIFTS: 14

Iris Hypoplasia with Glaucoma

Categories: Rare diseases

Aliases & Classifications for Iris Hypoplasia with Glaucoma

MalaCards integrated aliases for Iris Hypoplasia with Glaucoma:

Name: Iris Hypoplasia with Glaucoma 57
Iris Hypoplasia and Glaucoma 53 29
Ihg 57 53

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
iris hypoplasia with glaucoma:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 308500
MedGen 42 C1839928
SNOMED-CT via HPO 69 23986001 263934009 95714006

Summaries for Iris Hypoplasia with Glaucoma

MalaCards based summary : Iris Hypoplasia with Glaucoma, also known as iris hypoplasia and glaucoma, is related to anterior segment dysgenesis 3 and immune response to synthetic polypeptide--irhgal. An important gene associated with Iris Hypoplasia with Glaucoma is IHG1 (Iris Hypoplasia With Glaucoma 1). Related phenotypes are glaucoma and hypoplasia of the iris

Description from OMIM: 308500

Related Diseases for Iris Hypoplasia with Glaucoma

Diseases related to Iris Hypoplasia with Glaucoma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 3 11.3
2 immune response to synthetic polypeptide--irhgal 10.9

Symptoms & Phenotypes for Iris Hypoplasia with Glaucoma

Symptoms via clinical synopsis from OMIM:

57
Eyes:
iris atrophy/hypoplasia
secondary glaucoma


Clinical features from OMIM:

308500

Human phenotypes related to Iris Hypoplasia with Glaucoma:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 hypoplasia of the iris 32 HP:0007676

Drugs & Therapeutics for Iris Hypoplasia with Glaucoma

Search Clinical Trials , NIH Clinical Center for Iris Hypoplasia with Glaucoma

Genetic Tests for Iris Hypoplasia with Glaucoma

Genetic tests related to Iris Hypoplasia with Glaucoma:

# Genetic test Affiliating Genes
1 Iris Hypoplasia and Glaucoma 29

Anatomical Context for Iris Hypoplasia with Glaucoma

Publications for Iris Hypoplasia with Glaucoma

Articles related to Iris Hypoplasia with Glaucoma:

# Title Authors Year
1
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. ( 11007653 )
2000

Variations for Iris Hypoplasia with Glaucoma

Expression for Iris Hypoplasia with Glaucoma

Search GEO for disease gene expression data for Iris Hypoplasia with Glaucoma.

Pathways for Iris Hypoplasia with Glaucoma

GO Terms for Iris Hypoplasia with Glaucoma

Sources for Iris Hypoplasia with Glaucoma

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
Content
Loading form....