MCID: PNH005
MIFTS: 16

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 57 13 40
Panhypopituitarism X-Linked 53 75 29 6
Phpx 57 53 75
Pituitary Dwarfism Iv, Formerly 57
Panhypopituitarism - X-Linked 73
X-Linked Panhypopituitarism 37

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
panhypopituitarism, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 312000
MedGen 42 C0342376
KEGG 37 H02038
UMLS 73 C0342376

Summaries for Panhypopituitarism, X-Linked

UniProtKB/Swiss-Prot : 75 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 pituitary dwarfism and panhypopituitarism

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 11.4

Symptoms & Phenotypes for Panhypopituitarism, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
panhypopituitarism

Growth:
pituitary dwarfism


Clinical features from OMIM:

312000

Human phenotypes related to Panhypopituitarism, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 pituitary dwarfism 32 HP:0000839
2 panhypopituitarism 32 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 29 SOX3

Anatomical Context for Panhypopituitarism, X-Linked

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

41
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, 21-BP DUP duplication Pathogenic
2 SOX3 SOX3, 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 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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