PC1 DEFICIENCY
MCID: PRP098
MIFTS: 42
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Proprotein Convertase 1/3 Deficiency (PC1 DEFICIENCY)
Categories:
Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Proprotein Convertase 1/3 Deficiency:
Characteristics:Inheritance:
Proprotein Convertase 1/3 Deficiency:
Autosomal recessive 57
Obesity Due to Prohormone Convertase I Deficiency:
Autosomal recessive 58
Prevelance:
Obesity Due to Prohormone Convertase I Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Obesity Due to Prohormone Convertase I Deficiency:
Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Reproductive diseases Endocrine diseases Gastrointestinal diseases
ICD10:
32
Orphanet: 58
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Orphanet: 58 A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients. MalaCards based summary: Proprotein Convertase 1/3 Deficiency, also known as obesity due to prohormone convertase i deficiency, is related to diabetes insipidus, neurohypophyseal and central diabetes insipidus, and has symptoms including diarrhea An important gene associated with Proprotein Convertase 1/3 Deficiency is PCSK1 (Proprotein Convertase Subtilisin/Kexin Type 1). Affiliated tissues include small intestine, pituitary and skin, and related phenotypes are increased adipose tissue and polyphagia OMIM®: 57 Proprotein convertase-1/3 deficiency is an autosomal recessive disorder characterized by neonatal severe generalized malabsorptive diarrhea and failure to thrive. As the disease progresses, additional endocrine abnormalities develop, including diabetes insipidus, growth hormone deficiency, primary hypogonadism, adrenal insufficiency, and hypothyroidism (summary by Wilschanski et al., 2014). (600955) (Updated 08-Dec-2022) Disease Ontology: 11 A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has material basis in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15. UniProtKB/Swiss-Prot: 73 Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones. |
Human phenotypes related to Proprotein Convertase 1/3 Deficiency:58 30 (show all 26)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:600955 (Updated 08-Dec-2022)UMLS symptoms related to Proprotein Convertase 1/3 Deficiency:diarrhea |
Cochrane evidence based reviews: proprotein convertase 1 3 deficiency |
Organs/tissues related to Proprotein Convertase 1/3 Deficiency:
MalaCards :
Small Intestine,
Pituitary,
Skin,
Bone
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Articles related to Proprotein Convertase 1/3 Deficiency:(show all 18)
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ClinVar genetic disease variations for Proprotein Convertase 1/3 Deficiency:5 (show top 50) (show all 109)
UniProtKB/Swiss-Prot genetic disease variations for Proprotein Convertase 1/3 Deficiency:73
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Search
GEO
for disease gene expression data for Proprotein Convertase 1/3 Deficiency.
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Biological processes related to Proprotein Convertase 1/3 Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Proprotein Convertase 1/3 Deficiency according to GeneCards Suite gene sharing:
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