MCID: PNH005
MIFTS: 17

Panhypopituitarism, X-Linked

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Panhypopituitarism, X-Linked

MalaCards integrated aliases for Panhypopituitarism, X-Linked:

Name: Panhypopituitarism, X-Linked 53 13
Panhypopituitarism X-Linked 49 71 28
Phpx 53 49 71
Pituitary Dwarfism Iv, Formerly 53
Panhypopituitarism - X-Linked 69
X-Linked Panhypopituitarism 36

Characteristics:

OMIM:

53
Inheritance:
x-linked


HPO:

31
panhypopituitarism, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 53 312000
MedGen 39 C0342376
KEGG 36 H02038
UMLS 69 C0342376

Summaries for Panhypopituitarism, X-Linked

UniProtKB/Swiss-Prot : 71 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, and has symptoms including pituitary dwarfism and panhypopituitarism. An important gene associated with Panhypopituitarism, X-Linked is SOX3 (SRY-Box 3). Affiliated tissues include pituitary.

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 11.2

Symptoms & Phenotypes for Panhypopituitarism, X-Linked

Symptoms via clinical synopsis from OMIM:

53
Endocrine:
panhypopituitarism

Growth:
pituitary dwarfism


Clinical features from OMIM:

312000

Human phenotypes related to Panhypopituitarism, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 pituitary dwarfism 31 HP:0000839
2 panhypopituitarism 31 HP:0000871

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 28 SOX3

Anatomical Context for Panhypopituitarism, X-Linked

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

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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