CPHD6
MCID: PTT043
MIFTS: 16

Pituitary Hormone Deficiency, Combined, 6 (CPHD6)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 6

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

Name: Pituitary Hormone Deficiency, Combined, 6 58 76 13 74
Pituitary Hormone Deficiency, Combined 6 30 6
Cphd6 58 76
Hormone Deficiency, Pituitary, Combined, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
pituitary hormone deficiency, combined, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613986
MeSH 45 D007018
MedGen 43 C3151440
SNOMED-CT via HPO 70 237836003 263681008 715727009
UMLS 74 C3151440

Summaries for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot : 76 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 pituitary hormone deficiency, combined 6. An important gene associated with Pituitary Hormone Deficiency, Combined, 6 is OTX2 (Orthodenticle Homeobox 2). Affiliated tissues include pituitary and thyroid, and related phenotypes are short stature and ectopic posterior pituitary

Description from OMIM: 613986

Related Diseases for Pituitary Hormone Deficiency, Combined, 6

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 6

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

33
# Description HPO Frequency HPO Source Accession
1 short stature 33 HP:0004322
2 ectopic posterior pituitary 33 HP:0011755

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Endocrine Features:
pituitary hormone deficiencies

Neurologic Central Nervous System:
ectopic posterior pituitary
pituitary hypoplasia

Clinical features from OMIM:

613986

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 30 OTX2

Anatomical Context for Pituitary Hormone Deficiency, Combined, 6

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

42
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:

76
# 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
2 OTX2 NM_172337.2(OTX2): c.674A> G (p.Asn225Ser) single nucleotide variant Pathogenic rs370761964 GRCh38 Chromosome 14, 56801931: 56801931

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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