KEGG DISEASE: Prohormone convertase 1/3 deficiency

KEGG

DISEASE: Prohormone convertase 1/3 deficiency

Entry

H02105                      Disease

Name

Prohormone convertase 1/3 deficiency

Supergrp

Genetic obesity [DS:H02106]

Description

Proprotein convertase 1/3 (PC1/3) deficiency is a rare autosomal recessive disorder caused by mutations in the PCSK1 gene. It is associated with early-onset obesity, severe malabsorptive diarrhea, certain endocrine abnormalities, and dysregulation of glucose homeostasis. PC1/3 is an endoprotease that processes many prohormones expressed in endocrine and neuronal cells.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Nutritional disorders
   Overweight, obesity or specific nutrient excesses
    Overweight or obesity
     5B81  Obesity
      H02105  Prohormone convertase 1/3 deficiency
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06544  Neuroactive ligand signaling
   H02105  Prohormone convertase 1/3 deficiency

Network

nt06544 Neuroactive ligand signaling

Gene

PCSK1 [HSA:5122] [KO:K01359]

Drug

Setmelanotide acetate [DR:D11928]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S

Title

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.

Journal

Nat Genet 16:303-6 (1997)
DOI:10.1038/ng0797-303

Reference

Authors

Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW

Title

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

Journal

J Clin Endocrinol Metab 92:3369-73 (2007)
DOI:10.1210/jc.2007-0687

Reference

Authors

Martin MG, Lindberg I, Solorzano-Vargas RS, Wang J, Avitzur Y, Bandsma R, Sokollik C, Lawrence S, Pickett LA, Chen Z, Egritas O, Dalgic B, Albornoz V, de Ridder L, Hulst J, Gok F, Aydogan A, Al-Hussaini A, Gok DE, Yourshaw M, Wu SV, Cortina G, Stanford S, Georgia S

Title

Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.

Journal

Gastroenterology 145:138-48 (2013)
DOI:10.1053/j.gastro.2013.03.048

LinkDB

» Japanese version

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