MKHK1
MCID: MNK005
MIFTS: 17

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 57 74 29 6
Mkhk1 57 74
Syndrome, Menke-Hennekam, Type 1 40

Classifications:



External Ids:

MeSH 44 D000015
MedGen 42 CN258217

Summaries for Menke-Hennekam Syndrome 1

UniProtKB/Swiss-Prot : 74 Menke-Hennekam syndrome 1: 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.

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).

OMIM : 57 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)

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 11.4

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

Genetic tests related to Menke-Hennekam Syndrome 1:

# Genetic test Affiliating Genes
1 Menke-Hennekam Syndrome 1 29 CREBBP

Anatomical Context for Menke-Hennekam Syndrome 1

Publications for Menke-Hennekam Syndrome 1

Articles related to Menke-Hennekam Syndrome 1:

# Title Authors PMID Year
1
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP. 8 71
30737887 2019
2
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. 8 71
29460469 2018
3
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 8 71
27311832 2016

Variations for Menke-Hennekam Syndrome 1

ClinVar genetic disease variations for Menke-Hennekam Syndrome 1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CREBBP NM_001079846.1(CREBBP): c.5486G> A (p.Arg1829Gln) single nucleotide variant Pathogenic rs1131691326 16:3779448-3779448 16:3729447-3729447
2 CREBBP NM_001079846.1(CREBBP): c.5488C> T (p.Arg1830Trp) single nucleotide variant Pathogenic rs886039491 16:3779446-3779446 16:3729445-3729445
3 CREBBP NM_001079846.1(CREBBP): c.5014T> C (p.Cys1672Arg) single nucleotide variant Pathogenic 16:3781237-3781237 16:3731236-3731236
4 CREBBP NM_001079846.1(CREBBP): c.5056G> A (p.Glu1686Lys) single nucleotide variant Pathogenic 16:3781195-3781195 16:3731194-3731194
5 CREBBP NM_001079846.1(CREBBP): c.5500A> G (p.Met1834Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045037 16:3779434-3779434 16:3729433-3729433

UniProtKB/Swiss-Prot genetic disease variations for Menke-Hennekam Syndrome 1:

74 (show all 16)
# Symbol AA change Variation ID SNP ID
1 CREBBP p.Cys1710Arg VAR_078557
2 CREBBP p.Leu1747Arg VAR_078558
3 CREBBP p.Arg1786Pro VAR_078559
4 CREBBP p.Cys1819Phe VAR_078560
5 CREBBP p.Cys1826Trp VAR_078561
6 CREBBP p.Cys1838Tyr VAR_078562
7 CREBBP p.Arg1867Gln VAR_078563 rs113169132
8 CREBBP p.Arg1867Trp VAR_078564
9 CREBBP p.Arg1868Trp VAR_078565 rs886039491
10 CREBBP p.Met1872Val VAR_078566 rs797045037
11 CREBBP p.His1719Asp VAR_081979
12 CREBBP p.Glu1724Lys VAR_081980
13 CREBBP p.Ala1782Val VAR_081981
14 CREBBP p.His1829Asp VAR_081982
15 CREBBP p.Arg1868Gln VAR_081984
16 CREBBP p.Ala1870Pro VAR_081985

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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57 OMIM
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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