KEGG DISEASE: Menke-Hennekam syndrome

DISEASE: Menke-Hennekam syndrome

Entry

H02650                      Disease

Name

Menke-Hennekam syndrome

Description

Menke-Hennekam syndrome (MKHK) is a novel syndrome caused by mutations in CREBBP and EP300. Although mutations in the same genes cause Rubinstein-Taybi syndrome [DS:H00504], MKHK patients didn't show the characteristics typical for Rubinstein-Taybi syndrome. The main characteristics of the MKHK are developmental delay, autistic behavior, short stature, and microcephaly.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02650  Menke-Hennekam syndrome
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
  nt06523  Epigenetic regulation by Polycomb complexes
   H02650  Menke-Hennekam syndrome
Cellular processes
  nt06549  Cadherin signaling
   H02650  Menke-Hennekam syndrome

Pathway

hsa04330 Notch signaling pathway

hsa04068 FoxO signaling pathway

hsa04519 Cadherin signaling

Network

nt06523 Epigenetic regulation by Polycomb complexes
nt06549 Cadherin signaling

Gene

(MKHK1) CREBBP [HSA:1387] [KO:K04498]
(MKHK2) EP300 [HSA:2033] [KO:K04498]

Other DBs

ICD-11:

LD2F.1Y

OMIM:

618332 618333

Reference

PMID:29460469 (CREBBP and EP300)

Authors

Menke LA, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC

Title

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Journal

Am J Med Genet A 176:862-876 (2018)
DOI:10.1002/ajmg.a.38626

Reference

PMID:30737887 (CREBBP)

Authors

Angius A, Uva P, Oppo M, Persico I, Onano S, Olla S, Pes V, Perria C, Cuccuru G, Atzeni R, Serra G, Cucca F, Sotgiu S, Hennekam RC, Crisponi L

Title

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Journal

Am J Med Genet A 179:634-638 (2019)
DOI:10.1002/ajmg.a.61052

LinkDB

» Japanese version

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