MCID: CHR171
MIFTS: 10

Choroideremia Hypopituitarism

Categories: Rare diseases

Aliases & Classifications for Choroideremia Hypopituitarism

MalaCards integrated aliases for Choroideremia Hypopituitarism:

Name: Choroideremia Hypopituitarism 54

Classifications:



Summaries for Choroideremia Hypopituitarism

MalaCards based summary : Choroideremia Hypopituitarism is related to oliver-mcfarlane syndrome and choroideremia. Affiliated tissues include pituitary and retina, and related phenotypes are hypertension and ataxia

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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 hallmark (90%) HP:0000822
2 ataxia 33 hallmark (90%) HP:0001251
3 visual impairment 33 hallmark (90%) HP:0000505
4 short stature 33 hallmark (90%) HP:0004322
5 anterior hypopituitarism 33 hallmark (90%) HP:0000830
6 cachexia 33 hallmark (90%) HP:0004326
7 choroideremia 33 hallmark (90%) HP:0001139
8 nystagmus 33 occasional (7.5%) HP:0000639
9 hyperreflexia 33 occasional (7.5%) HP:0001347

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:

42
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 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
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