MKHK2
MCID: MNK006
MIFTS: 23

Menke-Hennekam Syndrome 2 (MKHK2)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Menke-Hennekam Syndrome 2

MalaCards integrated aliases for Menke-Hennekam Syndrome 2:

Name: Menke-Hennekam Syndrome 2 57 73 29 6 17
Mkhk2 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
menke-hennekam syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Menke-Hennekam Syndrome 2

OMIM® : 57 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) (Updated 05-Mar-2021)

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, and related phenotypes are intellectual disability and hearing impairment

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 family:

Menke-Hennekam Syndrome 1 Menke-Hennekam Syndrome 2

Symptoms & Phenotypes for Menke-Hennekam Syndrome 2

Human phenotypes related to Menke-Hennekam Syndrome 2:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 hearing impairment 31 very rare (1%) HP:0000365
3 depressed nasal bridge 31 very rare (1%) HP:0005280
4 delayed speech and language development 31 very rare (1%) HP:0000750
5 prominent forehead 31 very rare (1%) HP:0011220
6 full cheeks 31 very rare (1%) HP:0000293
7 recurrent upper respiratory tract infections 31 very rare (1%) HP:0002788
8 strabismus 31 very rare (1%) HP:0000486
9 flat face 31 very rare (1%) HP:0012368
10 micrognathia 31 very rare (1%) HP:0000347
11 epicanthus 31 very rare (1%) HP:0000286
12 joint hypermobility 31 very rare (1%) HP:0001382
13 upslanted palpebral fissure 31 very rare (1%) HP:0000582
14 sandal gap 31 very rare (1%) HP:0001852
15 thin upper lip vermilion 31 very rare (1%) HP:0000219
16 deep philtrum 31 very rare (1%) HP:0002002
17 blepharophimosis 31 very rare (1%) HP:0000581
18 narrow nasal bridge 31 very rare (1%) HP:0000446
19 autistic behavior 31 very rare (1%) HP:0000729
20 short palpebral fissure 31 very rare (1%) HP:0012745
21 absent earlobe 31 very rare (1%) HP:0000387
22 agenesis of permanent teeth 31 very rare (1%) HP:0006349
23 duodenal ulcer 31 very rare (1%) HP:0002588
24 overlapping toe 31 very rare (1%) HP:0001845
25 chronic constipation 31 very rare (1%) HP:0012450
26 cutaneous syndactyly of toes 31 very rare (1%) HP:0010621
27 square face 31 very rare (1%) HP:0000321
28 delayed ability to walk 31 very rare (1%) HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
developmental delay
speech delay

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:
delayed bone age

Head And Neck Teeth:
absent teeth

Immunology:
low immunoglobulin

Abdomen Gastrointestinal:
constipation
feeding problems

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

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 (Updated 05-Mar-2021)

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 EP300

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 57
29460469 2018
2
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 57 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) Microsatellite Pathogenic 619096 rs1569120910 22:41573203-41573205 22:41177199-41177201
3 EP300 NM_001429.4(EP300):c.7111T>A (p.Ser2371Thr) SNV Likely pathogenic 973766 22:41574826-41574826 22:41178822-41178822
4 EP300 NM_001429.4(EP300):c.5061+4G>A SNV Uncertain significance 930851 22:41572536-41572536 22:41176532-41176532
5 EP300 NM_001429.4(EP300):c.1760+20C>T SNV Uncertain significance 931160 22:41533814-41533814 22:41137810-41137810
6 EP300 NM_001429.4(EP300):c.2053+4A>T SNV Uncertain significance 374087 rs1057518889 22:41537230-41537230 22:41141226-41141226
7 EP300 NM_001429.4(EP300):c.7G>A (p.Glu3Lys) SNV Uncertain significance 931680 22:41489015-41489015 22:41093011-41093011

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 rs156912090

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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