MKHK1
MCID: MNK005
MIFTS: 21

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 56 73 29 6 17
Mkhk1 56 73
Syndrome, Menke-Hennekam, Type 1 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
patients with mutations at the 3-prime end of crebbp share facial characteristics (see genotype /phenotype correlations)


Classifications:



External Ids:

OMIM 56 618332
OMIM Phenotypic Series 56 PS618332
MeSH 43 D000015
MedGen 41 CN258217

Summaries for Menke-Hennekam Syndrome 1

UniProtKB/Swiss-Prot : 73 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 : 56 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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nares
depressed nasal ridge
narrow nasal bridge
more
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
microcephaly

Head And Neck Face:
prominent forehead
full cheeks
micrognathia

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Mouth:
high palate
cupid bow lip
thin vermillion upper lip

Skeletal Feet:
sandal gap
overlapping toes
partial cutaneous syndactyly
fibular deviation of distal halluces

Skin Nails Hair Hair:
long eyelashes
sparse hair
thick eyebrows

Respiratory:
recurrent upper airway infections

Genitourinary External Genitalia Male:
inguinal hernia

Neurologic Central Nervous System:
seizures
developmental delay
speech delay
intellectual disability (variable)

Growth Height:
short stature

Head And Neck Eyes:
strabismus
ptosis
telecanthus
blepharophimosis
long eyelashes
more
Neurologic Behavioral Psychiatric Manifestations:
autism
self-injurious behavior

Head And Neck Ears:
low-set ears
overfolded helix
hearing loss
protruding ears
cupped ears

Abdomen Gastrointestinal:
constipation
feeding problems

Skeletal Hands:
fifth finger clinodactyly
ulnar deviation of fingers

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

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. 6 56
30737887 2019
2
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. 6 56
29460469 2018
3
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 56 6
27311832 2016

Variations for Menke-Hennekam Syndrome 1

ClinVar genetic disease variations for Menke-Hennekam Syndrome 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CREBBP NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)SNV Pathogenic 429336 rs1131691326 16:3779448-3779448 16:3729447-3729447
2 CREBBP NM_004380.3(CREBBP):c.5128T>C (p.Cys1710Arg)SNV Pathogenic 619090 rs1567265203 16:3781237-3781237 16:3731236-3731236
3 CREBBP NM_004380.3(CREBBP):c.5170G>A (p.Glu1724Lys)SNV Pathogenic 619094 rs1567265131 16:3781195-3781195 16:3731194-3731194
4 CREBBP NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)SNV Pathogenic 265346 rs886039491 16:3779446-3779446 16:3729445-3729445
5 CREBBP NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)SNV Pathogenic/Likely pathogenic 209145 rs797045037 16:3779434-3779434 16:3729433-3729433
6 CREBBP NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)SNV Likely pathogenic 591453 rs1567263529 16:3779704-3779704 16:3729703-3729703
7 CREBBP NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)SNV Uncertain significance 521543 rs1064794963 16:3779682-3779682 16:3729681-3729681

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

73 (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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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