PHPX
MCID: PNH005
MIFTS: 26

Panhypopituitarism, X-Linked (PHPX)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Panhypopituitarism, X-Linked

MalaCards integrated aliases for Panhypopituitarism, X-Linked:

Name: Panhypopituitarism, X-Linked 57 29 13 6 39
Phpx 57 12 20 72
X-Linked Panhypopituitarism 12 36 15
Panhypopituitarism X-Linked 20 72
Pituitary Dwarfism Iv, Formerly 57
Panhypopituitarism - X-Linked 70
Pituitary Dwarfism Iv 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111779
OMIM® 57 312000
KEGG 36 H02038
MedGen 41 C0342376
UMLS 70 C0342376

Summaries for Panhypopituitarism, X-Linked

KEGG : 36 X-linked panhypopituitarism is a rare genetic condition characterized by hypopituitarism, delayed pubertal development, and short stature. Duplications and deletions of Xq26-27 including SOX3 have been implicated in the etiology of this disease.

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

Disease Ontology : 12 A panhypopituitarism that has material basis in duplications in SOX3 on chromosome Xq27.1.

UniProtKB/Swiss-Prot : 72 Panhypopituitarism X-linked: Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary.

More information 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
2 septooptic dysplasia 9.8 SOX3 FGF8
3 borjeson-forssman-lehmann syndrome 9.7 YIPF6 SOX3

Symptoms & Phenotypes for Panhypopituitarism, X-Linked

Human phenotypes related to Panhypopituitarism, X-Linked:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine:
panhypopituitarism

Growth:
pituitary dwarfism

Clinical features from OMIM®:

312000 (Updated 05-Apr-2021)

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:

40
Pituitary

Publications for Panhypopituitarism, X-Linked

Articles related to Panhypopituitarism, X-Linked:

# Title Authors PMID Year
1
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 57 6
15800844 2005
2
Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. 57
17400794 2007
3
Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. 57
15342697 2004
4
Variable X-linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre-pubertal males. 57
192503 1977
5
Biologic response to polymer-coated stents: in vitro analysis and results in an iliac artery sheep model. 61
14645877 2004
6
Changes in renal hemodynamics and tubular function of surgically cured primary hyperparathyroid patients are probably due to chronic hypercalcemic nephropathy. 61
9797475 1998
7
The cause of maintained hypercalciuria after the surgical cure of primary hyperparathyroidism is a defect in renal calcium reabsorption. 61
8851686 1996

Variations for Panhypopituitarism, X-Linked

ClinVar genetic disease variations for Panhypopituitarism, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOX3 SOX3, DUP Duplication Pathogenic 9869 GRCh37:
GRCh38:
2 SOX3 SOX3, 21-BP DUP, NT720, ALANINE TRACT EXPANSION Duplication Pathogenic 9870 GRCh37:
GRCh38:
3 LOC108281134 , SOX3 NM_005634.3(SOX3):c.186TCC[1] (p.Pro64del) Microsatellite Uncertain significance 931754 GRCh37: X:139587035-139587037
GRCh38: X:140504870-140504872

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

Biological processes related to Panhypopituitarism, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.46 SOX3 NEUROD4 HEMGN FGF8
2 multicellular organism development GO:0007275 9.02 SOX3 NXF5 NEUROD4 HEMGN FGF8
3 positive regulation of cell differentiation GO:0045597 8.96 NEUROD4 FGF8

Sources for Panhypopituitarism, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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