MCID: PNH005
MIFTS: 18

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 54 24 13
Panhypopituitarism X-Linked 50 71 29
Phpx 50 71
Panhypopituitarism - X-Linked 69

Characteristics:

OMIM:

54
Inheritance:
x-linked


HPO:

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


Classifications:



External Ids:

OMIM 54 312000
MedGen 40 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 isolated growth hormone deficiency, and has symptoms including panhypopituitarism and pituitary dwarfism. 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:

id Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with isolated growth hormone deficiency 11.1

Symptoms & Phenotypes for Panhypopituitarism, X-Linked

Symptoms via clinical synopsis from OMIM:

54

Endocrine:
panhypopituitarism

Growth:
pituitary dwarfism


Clinical features from OMIM:

312000

Human phenotypes related to Panhypopituitarism, X-Linked:

32
id Description HPO Frequency HPO Source Accession
1 panhypopituitarism 32 HP:0000871
2 pituitary dwarfism 32 HP:0000839

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:

id Genetic test Affiliating Genes
1 Panhypopituitarism X-Linked 29
2 Panhypopituitarism, X-Linked 24 SOX3

Anatomical Context for Panhypopituitarism, X-Linked

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

39
Pituitary

Publications for Panhypopituitarism, X-Linked

Variations for Panhypopituitarism, X-Linked

ClinVar genetic disease variations for Panhypopituitarism, X-Linked:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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