IHG
MCID: IRS009
MIFTS: 17

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 58
Iris Hypoplasia and Glaucoma 54 30
Ihg 58 54

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
iris hypoplasia with glaucoma:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 308500
MedGen 43 C1839928

Summaries for Iris Hypoplasia with Glaucoma

MalaCards based summary : Iris Hypoplasia with Glaucoma, also known as iris hypoplasia and glaucoma, is related to immune response to synthetic polypeptide--irhgal and anterior segment dysgenesis 3. 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

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 immune response to synthetic polypeptide--irhgal 11.6
2 anterior segment dysgenesis 3 11.5

Symptoms & Phenotypes for Iris Hypoplasia with Glaucoma

Human phenotypes related to Iris Hypoplasia with Glaucoma:

33
# Description HPO Frequency HPO Source Accession
1 glaucoma 33 HP:0000501
2 hypoplasia of the iris 33 HP:0007676
3 iris atrophy 33 HP:0001089

Symptoms via clinical synopsis from OMIM:

58
Eyes:
secondary glaucoma
iris atrophy/hypoplasia

Clinical features from OMIM:

308500

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 30

Anatomical Context for Iris Hypoplasia with Glaucoma

MalaCards organs/tissues related to Iris Hypoplasia with Glaucoma:

42
Kidney

Publications for Iris Hypoplasia with Glaucoma

Articles related to Iris Hypoplasia with Glaucoma:

(show all 11)
# Title Authors Year
1
The influence of angiotensin I-converting enzyme (ACE) I/D gene polymorphism on cardiovascular and muscular adaptations following 8 weeks of isometric handgrip training (IHG) in untrained normotensive males. ( 30899143 )
2019
2
Profibrotic IHG-1 complexes with renal disease associated HSPA5 and TRAP1 in mitochondria. ( 28115289 )
2017
3
IHG-1 increases mitochondrial fusion and bioenergetic function. ( 25008184 )
2014
4
IHG-1 amplifies TGF-β1 signalling and mitochondrial biogenesis and is increased in diabetic kidney disease. ( 23165112 )
2013
5
IHG-1 must be localised to mitochondria to decrease Smad7 expression and amplify TGF-β1-induced fibrotic responses. ( 23567938 )
2013
6
IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α. ( 21784897 )
2011
7
IHG-1 amplifies TGF-beta1 signaling and is increased in renal fibrosis. ( 18508967 )
2008
8
IHG-2, a mesangial cell gene induced by high glucose, is human gremlin. Regulation by extracellular glucose concentration, cyclic mechanical strain, and transforming growth factor-beta1. ( 10744662 )
2000
9
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. ( 11007653 )
2000
10
Use of induced hyperglycaemia (IHG) for the improvement of hyperthermia efficacy in cancer therapy. ( 1806648 )
1991
11
IHG Nurse '88 awards. ( 27416440 )
1988

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....