KEGG   DISEASE: Mullegama-Klein-Martinez syndrome
Entry
H02582                      Disease                                
Name
Mullegama-Klein-Martinez syndrome
Description
Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked neurodevelopmental disorder characterized by developmental delay, microcephaly, and congenital anomalies. It has been reported that mutations in STAG2 cause this disease. STAG2 encodes a cohesin subunit.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02582  Mullegama-Klein-Martinez syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06512  Chromosome cohesion and segregation
   H02582  Mullegama-Klein-Martinez syndrome
Pathway
hsa04110  Cell cycle
Network
nt06512 Chromosome cohesion and segregation
Gene
STAG2 [HSA:10735] [KO:K06671]
Other DBs
ICD-11: LD90.Y
ICD-10: Q89.8
OMIM: 301022
Reference
PMID:28296084
  Authors
Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA
  Title
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
  Journal
Am J Med Genet A 173:1319-1327 (2017)
DOI:10.1002/ajmg.a.38207
Reference
PMID:29263825
  Authors
Soardi FC, Machado-Silva A, Linhares ND, Zheng G, Qu Q, Pena HB, Martins TMM, Vieira HGS, Pereira NB, Melo-Minardi RC, Gomes CC, Gomez RS, Gomes DA, Pires DEV, Ascher DB, Yu H, Pena SDJ
  Title
Familial STAG2 germline mutation defines a new human cohesinopathy.
  Journal
NPJ Genom Med 2:7 (2017)
DOI:10.1038/s41525-017-0009-4
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