KEGG DISEASE: Cardiac-urogenital syndrome

KEGG

DISEASE: Cardiac-urogenital syndrome

Entry

H02488                      Disease

Name

Cardiac-urogenital syndrome

Description

Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF is a membrane-associated transcription factor that plays a pivotal role in oligodendrocyte differentiation and myelination.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2Y  Other specified multiple developmental anomalies or syndromes
    H02488  Cardiac-urogenital syndrome

Gene

MYRF [HSA:745] [KO:K24768]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ

Title

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.

Journal

Am J Med Genet A 176:969-972 (2018)
DOI:10.1002/ajmg.a.38620

Reference

Authors

Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y

Title

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Journal

PLoS Genet 14:e1007822 (2018)
DOI:10.1371/journal.pgen.1007822

LinkDB

» Japanese version

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