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 57 75 13 73
Pituitary Hormone Deficiency, Combined 6 29 6
Cphd6 57 75
Hormone Deficiency, Pituitary, Combined, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pituitary hormone deficiency, combined, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613986
MedGen 42 C3151440
MeSH 44 D007018
SNOMED-CT via HPO 69 263681008 237836003 715727009
UMLS 73 C3151440

Summaries for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Endocrine Features:
pituitary hormone deficiencies

Neurologic Central Nervous System:
pituitary hypoplasia
ectopic posterior pituitary


Clinical features from OMIM:

613986

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

32
# Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 ectopic posterior pituitary 32 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 29 OTX2

Anatomical Context for Pituitary Hormone Deficiency, Combined, 6

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

41
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:

75
# 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
3 OTX2 NM_172337.2(OTX2): c.402delCinsCC (p.Ser135Leufs) indel Pathogenic GRCh37 Chromosome 14, 57268921: 57268921
4 OTX2 NM_172337.2(OTX2): c.402delCinsCC (p.Ser135Leufs) indel Pathogenic GRCh38 Chromosome 14, 56802203: 56802203

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 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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