MKHK1
MCID: MNK005
MIFTS: 7

Menke-Hennekam Syndrome 1 (MKHK1)

Categories: Genetic diseases

Aliases & Classifications for Menke-Hennekam Syndrome 1

MalaCards integrated aliases for Menke-Hennekam Syndrome 1:

Name: Menke-Hennekam Syndrome 1 58 6
Mkhk1 58

Classifications:



External Ids:

OMIM 58 618332

Summaries for Menke-Hennekam Syndrome 1

OMIM : 58 Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-1 (RSTS1; 180849), patients with MKHK1 do not resemble the striking phenotype of RSTS1. (618332)

MalaCards based summary : Menke-Hennekam Syndrome 1, also known as mkhk1, is related to menke-hennekam syndrome 2. An important gene associated with Menke-Hennekam Syndrome 1 is CREBBP (CREB Binding Protein).

Related Diseases for Menke-Hennekam Syndrome 1

Diseases in the Menke-Hennekam Syndrome 1 family:

Menke-Hennekam Syndrome 2

Diseases related to Menke-Hennekam Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 menke-hennekam syndrome 2 11.3

Symptoms & Phenotypes for Menke-Hennekam Syndrome 1

Clinical features from OMIM:

618332

Drugs & Therapeutics for Menke-Hennekam Syndrome 1

Search Clinical Trials , NIH Clinical Center for Menke-Hennekam Syndrome 1

Genetic Tests for Menke-Hennekam Syndrome 1

Anatomical Context for Menke-Hennekam Syndrome 1

Publications for Menke-Hennekam Syndrome 1

Variations for Menke-Hennekam Syndrome 1

ClinVar genetic disease variations for Menke-Hennekam Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CREBBP NM_004380.2(CREBBP): c.5614A> G (p.Met1872Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045037 GRCh37 Chromosome 16, 3779434: 3779434
2 CREBBP NM_004380.2(CREBBP): c.5614A> G (p.Met1872Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045037 GRCh38 Chromosome 16, 3729433: 3729433
3 CREBBP NM_004380.2(CREBBP): c.5602C> T (p.Arg1868Trp) single nucleotide variant Pathogenic rs886039491 GRCh37 Chromosome 16, 3779446: 3779446
4 CREBBP NM_004380.2(CREBBP): c.5602C> T (p.Arg1868Trp) single nucleotide variant Pathogenic rs886039491 GRCh38 Chromosome 16, 3729445: 3729445
5 CREBBP NM_004380.2(CREBBP): c.5600G> A (p.Arg1867Gln) single nucleotide variant Pathogenic rs1131691326 GRCh37 Chromosome 16, 3779448: 3779448
6 CREBBP NM_004380.2(CREBBP): c.5600G> A (p.Arg1867Gln) single nucleotide variant Pathogenic rs1131691326 GRCh38 Chromosome 16, 3729447: 3729447
7 CREBBP NM_004380.2(CREBBP): c.5128T> C (p.Cys1710Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3731236: 3731236
8 CREBBP NM_004380.2(CREBBP): c.5128T> C (p.Cys1710Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3781237: 3781237
9 CREBBP NM_004380.2(CREBBP): c.5170G> A (p.Glu1724Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3781195: 3781195
10 CREBBP NM_004380.2(CREBBP): c.5170G> A (p.Glu1724Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3731194: 3731194

Expression for Menke-Hennekam Syndrome 1

Search GEO for disease gene expression data for Menke-Hennekam Syndrome 1.

Pathways for Menke-Hennekam Syndrome 1

GO Terms for Menke-Hennekam Syndrome 1

Sources for Menke-Hennekam Syndrome 1

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