MKHK2
MCID: MNK006
MIFTS: 14

Menke-Hennekam Syndrome 2 (MKHK2)

Categories: Genetic diseases

Aliases & Classifications for Menke-Hennekam Syndrome 2

MalaCards integrated aliases for Menke-Hennekam Syndrome 2:

Name: Menke-Hennekam Syndrome 2 57 74 29 6
Mkhk2 57 74

Classifications:



External Ids:

MeSH 44 D000015
MedGen 42 CN258218

Summaries for Menke-Hennekam Syndrome 2

OMIM : 57 Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-2 (RSTS2; 613684), patients with MKHK1 do not resemble the striking phenotype of RSTS2. For a discussion of genetic heterogeneity of Menke-Hennekam syndrome, see MKHK1 (618332). (618333)

MalaCards based summary : Menke-Hennekam Syndrome 2, is also known as mkhk2. An important gene associated with Menke-Hennekam Syndrome 2 is EP300 (E1A Binding Protein P300).

UniProtKB/Swiss-Prot : 74 Menke-Hennekam syndrome 2: A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum.

Related Diseases for Menke-Hennekam Syndrome 2

Diseases in the Menke-Hennekam Syndrome 1 family:

Menke-Hennekam Syndrome 2

Symptoms & Phenotypes for Menke-Hennekam Syndrome 2

Clinical features from OMIM:

618333

Drugs & Therapeutics for Menke-Hennekam Syndrome 2

Search Clinical Trials , NIH Clinical Center for Menke-Hennekam Syndrome 2

Genetic Tests for Menke-Hennekam Syndrome 2

Genetic tests related to Menke-Hennekam Syndrome 2:

# Genetic test Affiliating Genes
1 Menke-Hennekam Syndrome 2 29 EP300

Anatomical Context for Menke-Hennekam Syndrome 2

Publications for Menke-Hennekam Syndrome 2

Articles related to Menke-Hennekam Syndrome 2:

# Title Authors PMID Year
1
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. 8 71
29460469 2018
2
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 8 71
27465822 2016

Variations for Menke-Hennekam Syndrome 2

ClinVar genetic disease variations for Menke-Hennekam Syndrome 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EP300 NM_001429.4(EP300): c.5471A> C (p.Gln1824Pro) single nucleotide variant Pathogenic 22:41573186-41573186 22:41177182-41177182
2 EP300 NM_001429.4(EP300): c.5489_5491GGA[1] (p.Arg1831del) short repeat Pathogenic 22:41573207-41573209 22:41177203-41177205

UniProtKB/Swiss-Prot genetic disease variations for Menke-Hennekam Syndrome 2:

74
# Symbol AA change Variation ID SNP ID
1 EP300 p.Gln1824Pro VAR_081986

Expression for Menke-Hennekam Syndrome 2

Search GEO for disease gene expression data for Menke-Hennekam Syndrome 2.

Pathways for Menke-Hennekam Syndrome 2

GO Terms for Menke-Hennekam Syndrome 2

Sources for Menke-Hennekam Syndrome 2

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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