MCID: CHR171
MIFTS: 19

Choroideremia Hypopituitarism

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Choroideremia Hypopituitarism

MalaCards integrated aliases for Choroideremia Hypopituitarism:

Name: Choroideremia Hypopituitarism 53
Choroideremia-Hypopituitarism Syndrome 59
Chm-Hypopituitarism Syndrome 59

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


Summaries for Choroideremia Hypopituitarism

MalaCards based summary : Choroideremia Hypopituitarism, also known as choroideremia-hypopituitarism syndrome, is related to oliver-mcfarlane syndrome and choroideremia. Affiliated tissues include eye, pituitary and retina, and related phenotypes are nystagmus and hypertension

Related Diseases for Choroideremia Hypopituitarism

Diseases related to Choroideremia Hypopituitarism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 oliver-mcfarlane syndrome 10.1
2 choroideremia 10.1
3 pituitary gland disease 10.1
4 hypopituitarism 10.1
5 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 10.1

Graphical network of the top 20 diseases related to Choroideremia Hypopituitarism:



Diseases related to Choroideremia Hypopituitarism

Symptoms & Phenotypes for Choroideremia Hypopituitarism

Human phenotypes related to Choroideremia Hypopituitarism:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0000822
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
5 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 anterior hypopituitarism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000830
8 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
9 choroideremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001139

Drugs & Therapeutics for Choroideremia Hypopituitarism

Search Clinical Trials , NIH Clinical Center for Choroideremia Hypopituitarism

Genetic Tests for Choroideremia Hypopituitarism

Anatomical Context for Choroideremia Hypopituitarism

MalaCards organs/tissues related to Choroideremia Hypopituitarism:

41
Eye, Pituitary, Retina

Publications for Choroideremia Hypopituitarism

Articles related to Choroideremia Hypopituitarism:

# Title Authors Year
1
Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism. ( 18978655 )
2008

Variations for Choroideremia Hypopituitarism

Expression for Choroideremia Hypopituitarism

Search GEO for disease gene expression data for Choroideremia Hypopituitarism.

Pathways for Choroideremia Hypopituitarism

GO Terms for Choroideremia Hypopituitarism

Sources for Choroideremia Hypopituitarism

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
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