CPHD6
MCID: PTT043
MIFTS: 16
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Pituitary Hormone Deficiency, Combined, 6 (CPHD6)
Categories:
Endocrine diseases, Genetic diseases
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MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 6:
Characteristics:HPO:32Classifications: |
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
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613986Human phenotypes related to Pituitary Hormone Deficiency, Combined, 6:32
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MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 6:41
Pituitary,
Thyroid
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UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:75
ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:6
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Search
GEO
for disease gene expression data for Pituitary Hormone Deficiency, Combined, 6.
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