KEGG DISEASE: Morbid obesity and spermatogenic failure

DISEASE: Morbid obesity and spermatogenic failure

Entry

H02235                      Disease

Name

Morbid obesity and spermatogenic failure

Description

Morbid obesity and spermatogenic failure (MOSPGF) is an autosomal recessive morbid obesity syndrome. Mutations in CEP19, the gene encoding the ciliary protein, have been identified in patients.

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
      H02235  Morbid obesity and spermatogenic failure

Gene

CEP19 [HSA:84984] [KO:K16801]

Other DBs

ICD-11:

5B81.Y

MeSH:

D009767

OMIM:

615703

Reference

PMID:24268657

Authors

Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, DeFronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, Martignetti JA

Title

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Journal

Am J Hum Genet 93:1061-71 (2013)
DOI:10.1016/j.ajhg.2013.10.025

Reference

PMID:29127258

Authors

Yildiz Bolukbasi E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A

Title

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

Journal

J Med Genet 55:189-197 (2018)
DOI:10.1136/jmedgenet-2017-104758

LinkDB

» Japanese version

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