MKHK2
MCID: MNK006
MIFTS: 18

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 56 73 29 6 17
Mkhk2 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based reports of 2 patients (last curated march 2020)


Classifications:



External Ids:

OMIM 56 618333
OMIM Phenotypic Series 56 PS618332
MeSH 43 D000015
MedGen 41 CN258218

Summaries for Menke-Hennekam Syndrome 2

OMIM : 56 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). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 73 Menke-Hennekam syndrome 2: 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.

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
developmental delay
speech delay

Head And Neck Face:
prominent forehead
full cheeks
deep philtrum

Head And Neck Eyes:
strabismus
blepharophimosis
hypermetropia
epicanthal folds
short palpebral fissures
more
Skeletal Limbs:
joint laxity

Abdomen Gastrointestinal:
constipation
feeding problems

Skeletal:
delayed bone age

Head And Neck Teeth:
absent teeth

Immunology:
low immunoglobulin

Head And Neck Nose:
depressed nasal bridge
narrow nasal bridge

Respiratory:
recurrent upper respiratory tract infections

Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity

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

Skeletal Hands:
long fingers

Head And Neck Ears:
hearing loss, sensorineural
otitis media, recurrent
short ears

Head And Neck Mouth:
thin vermillion upper lip

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

Genetic tests related to Menke-Hennekam Syndrome 2:

# Genetic test Affiliating Genes
1 Menke-Hennekam Syndrome 2 29

Anatomical Context for Menke-Hennekam Syndrome 2

MalaCards organs/tissues related to Menke-Hennekam Syndrome 2:

40
Bone

Publications for Menke-Hennekam Syndrome 2

Articles related to Menke-Hennekam Syndrome 2:

# Title Authors PMID Year
1
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. 6 56
29460469 2018
2
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 56 6
27465822 2016

Variations for Menke-Hennekam Syndrome 2

ClinVar genetic disease variations for Menke-Hennekam Syndrome 2:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EP300 NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro)SNV Pathogenic 619095 rs1569120903 22:41573186-41573186 22:41177182-41177182
2 EP300 NM_001429.4(EP300):c.5489_5491GGA[1] (p.Arg1831del)short repeat Pathogenic 619096 rs1569120910 22:41573203-41573205 22:41177199-41177201

UniProtKB/Swiss-Prot genetic disease variations for Menke-Hennekam Syndrome 2:

73
# Symbol AA change Variation ID SNP ID
1 EP300 p.Gln1824Pro VAR_081986

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
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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