IHG
MCID: IRS009
MIFTS: 16

Iris Hypoplasia with Glaucoma (IHG)

Categories: Rare diseases

Aliases & Classifications for Iris Hypoplasia with Glaucoma

MalaCards integrated aliases for Iris Hypoplasia with Glaucoma:

Name: Iris Hypoplasia with Glaucoma 57 29
Ihg 57 20
Iris Hypoplasia and Glaucoma 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked


HPO:

31
iris hypoplasia with glaucoma:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM® 57 308500
MedGen 41 C1839928

Summaries for Iris Hypoplasia with Glaucoma

MalaCards based summary : Iris Hypoplasia with Glaucoma, also known as ihg, 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). Affiliated tissues include kidney, and related phenotypes are glaucoma and hypoplasia of the iris

More information from OMIM: 308500

Related Diseases for Iris Hypoplasia with Glaucoma

Graphical network of the top 20 diseases related to Iris Hypoplasia with Glaucoma:



Diseases related to Iris Hypoplasia with Glaucoma

Symptoms & Phenotypes for Iris Hypoplasia with Glaucoma

Human phenotypes related to Iris Hypoplasia with Glaucoma:

31
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 HP:0000501
2 hypoplasia of the iris 31 HP:0007676
3 iris atrophy 31 HP:0001089

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
secondary glaucoma
iris atrophy/hypoplasia

Clinical features from OMIM®:

308500 (Updated 20-May-2021)

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 with Glaucoma 29

Anatomical Context for Iris Hypoplasia with Glaucoma

MalaCards organs/tissues related to Iris Hypoplasia with Glaucoma:

40
Kidney

Publications for Iris Hypoplasia with Glaucoma

Articles related to Iris Hypoplasia with Glaucoma:

# Title Authors PMID Year
1
[Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension]. 61
16683168 2006
2
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. 61
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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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