MKHK2
MCID: MNK006
MIFTS: 6

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 58 6
Mkhk2 58

Classifications:



External Ids:

OMIM 58 618333

Summaries for Menke-Hennekam Syndrome 2

OMIM : 58 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).

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

Anatomical Context for Menke-Hennekam Syndrome 2

Publications for Menke-Hennekam Syndrome 2

Variations for Menke-Hennekam Syndrome 2

ClinVar genetic disease variations for Menke-Hennekam Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EP300 NG_009817.1: g.89573A> C single nucleotide variant Pathogenic GRCh37 Chromosome 22, 41573186: 41573186
2 EP300 NG_009817.1: g.89573A> C single nucleotide variant Pathogenic GRCh38 Chromosome 22, 41177182: 41177182
3 EP300 NM_001429.4(EP300): c.5492_5494del (p.Arg1831del) deletion Pathogenic GRCh38 Chromosome 22, 41177203: 41177205
4 EP300 NM_001429.4(EP300): c.5492_5494del (p.Arg1831del) deletion Pathogenic GRCh37 Chromosome 22, 41573207: 41573209

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....