MCID: PTT043
MIFTS: 16

Pituitary Hormone Deficiency, Combined, 6

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 6

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 6:

Name: Pituitary Hormone Deficiency, Combined, 6 53 71 13 69
Cphd6 53 71
Pituitary Hormone Deficiency, Combined 6 28

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
pituitary hormone deficiency, combined, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613986
MedGen 39 C3151440
MeSH 41 D007018
SNOMED-CT via HPO 65 263681008 237836003 715727009
UMLS 69 C3151440

Summaries for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot : 71 Pituitary hormone deficiency, combined, 6: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 6, is also known as cphd6, and has symptoms including short stature and ectopic posterior pituitary. An important gene associated with Pituitary Hormone Deficiency, Combined, 6 is OTX2 (Orthodenticle Homeobox 2). Affiliated tissues include pituitary and thyroid.

Description from OMIM: 613986

Related Diseases for Pituitary Hormone Deficiency, Combined, 6

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 6

Symptoms via clinical synopsis from OMIM:

53
Growth Height:
short stature

Endocrine Features:
pituitary hormone deficiencies

Neurologic Central Nervous System:
ectopic posterior pituitary
pituitary hypoplasia


Clinical features from OMIM:

613986

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 6:

31
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 ectopic posterior pituitary 31 HP:0011755

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 6

Search Clinical Trials , NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 6

Genetic Tests for Pituitary Hormone Deficiency, Combined, 6

Genetic tests related to Pituitary Hormone Deficiency, Combined, 6:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 6 28 OTX2

Anatomical Context for Pituitary Hormone Deficiency, Combined, 6

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 6:

38
Pituitary, Thyroid

Publications for Pituitary Hormone Deficiency, Combined, 6

Variations for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

71
# Symbol AA change Variation ID SNP ID
1 OTX2 p.Asn225Ser VAR_065953 rs370761964

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OTX2 NM_172337.2(OTX2): c.674A> G (p.Asn225Ser) single nucleotide variant Pathogenic rs370761964 GRCh37 Chromosome 14, 57268649: 57268649

Expression for Pituitary Hormone Deficiency, Combined, 6

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 6.

Pathways for Pituitary Hormone Deficiency, Combined, 6

GO Terms for Pituitary Hormone Deficiency, Combined, 6

Sources for Pituitary Hormone Deficiency, Combined, 6

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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