PHPX
MCID: PNH005
MIFTS: 16

Panhypopituitarism, X-Linked (PHPX)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Panhypopituitarism, X-Linked

MalaCards integrated aliases for Panhypopituitarism, X-Linked:

Name: Panhypopituitarism, X-Linked 58 13 41
Panhypopituitarism X-Linked 54 76 30 6
Phpx 58 54 76
Pituitary Dwarfism Iv, Formerly 58
Panhypopituitarism - X-Linked 74
X-Linked Panhypopituitarism 38

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
panhypopituitarism, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 312000
KEGG 38 H02038
MedGen 43 C0342376
UMLS 74 C0342376

Summaries for Panhypopituitarism, X-Linked

UniProtKB/Swiss-Prot : 76 Panhypopituitarism X-linked: Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary.

MalaCards based summary : Panhypopituitarism, X-Linked, also known as panhypopituitarism x-linked, is related to mental retardation, x-linked, with panhypopituitarism. An important gene associated with Panhypopituitarism, X-Linked is SOX3 (SRY-Box 3). Affiliated tissues include pituitary, and related phenotypes are panhypopituitarism and pituitary dwarfism

Description from OMIM: 312000

Related Diseases for Panhypopituitarism, X-Linked

Diseases related to Panhypopituitarism, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with panhypopituitarism 11.5

Symptoms & Phenotypes for Panhypopituitarism, X-Linked

Human phenotypes related to Panhypopituitarism, X-Linked:

33
# Description HPO Frequency HPO Source Accession
1 panhypopituitarism 33 HP:0000871
2 pituitary dwarfism 33 HP:0000839

Symptoms via clinical synopsis from OMIM:

58
Endocrine:
panhypopituitarism

Growth:
pituitary dwarfism

Clinical features from OMIM:

312000

Drugs & Therapeutics for Panhypopituitarism, X-Linked

Search Clinical Trials , NIH Clinical Center for Panhypopituitarism, X-Linked

Genetic Tests for Panhypopituitarism, X-Linked

Genetic tests related to Panhypopituitarism, X-Linked:

# Genetic test Affiliating Genes
1 Panhypopituitarism X-Linked 30 SOX3

Anatomical Context for Panhypopituitarism, X-Linked

MalaCards organs/tissues related to Panhypopituitarism, X-Linked:

42
Pituitary

Publications for Panhypopituitarism, X-Linked

Variations for Panhypopituitarism, X-Linked

ClinVar genetic disease variations for Panhypopituitarism, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX3 SOX3, DUP duplication Pathogenic
2 SOX3 SOX3, 21-BP DUP duplication Pathogenic

Expression for Panhypopituitarism, X-Linked

Search GEO for disease gene expression data for Panhypopituitarism, X-Linked.

Pathways for Panhypopituitarism, X-Linked

GO Terms for Panhypopituitarism, X-Linked

Sources for Panhypopituitarism, X-Linked

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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