Menke-Hennekam Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

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OMIM ⁵⁸ 618332

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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).

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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

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Symptoms & Phenotypes for Menke-Hennekam Syndrome 1

Clinical features from OMIM:

618332

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Drugs & Therapeutics for Menke-Hennekam Syndrome 1

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

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Genetic Tests for Menke-Hennekam Syndrome 1

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Anatomical Context for Menke-Hennekam Syndrome 1

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Publications for Menke-Hennekam Syndrome 1

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Genes for Menke-Hennekam Syndrome 1

Genes related to Menke-Hennekam Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CREBBP	CREB Binding Protein	Protein Coding	900	Molecular basis known ⁵⁸ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	27311832 29460469 30737887

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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

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Expression for Menke-Hennekam Syndrome 1

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

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Pathways for Menke-Hennekam Syndrome 1

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GO Terms for Menke-Hennekam Syndrome 1

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Menke-Hennekam Syndrome 1 (MKHK1)

Aliases & Classifications for Menke-Hennekam Syndrome 1

MalaCards integrated aliases for Menke-Hennekam Syndrome 1:

Classifications:

External Ids:

Summaries for Menke-Hennekam Syndrome 1

Related Diseases for Menke-Hennekam Syndrome 1

Diseases in the Menke-Hennekam Syndrome 1 family:

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

Symptoms & Phenotypes for Menke-Hennekam Syndrome 1

Clinical features from OMIM:

Drugs & Therapeutics 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

Genes for Menke-Hennekam Syndrome 1

Genes related to Menke-Hennekam Syndrome 1 (1 elite genes):

Variations for Menke-Hennekam Syndrome 1

ClinVar genetic disease variations for Menke-Hennekam Syndrome 1:

Expression for Menke-Hennekam Syndrome 1

Pathways for Menke-Hennekam Syndrome 1

GO Terms for Menke-Hennekam Syndrome 1

Sources for Menke-Hennekam Syndrome 1