MKHK1
MCID: MNK005
MIFTS: 27

Menke-Hennekam Syndrome 1 (MKHK1)

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

Aliases & Classifications for Menke-Hennekam Syndrome 1

MalaCards integrated aliases for Menke-Hennekam Syndrome 1:

Name: Menke-Hennekam Syndrome 1 57 73 29 6 17
Mkhk1 57 73
Syndrome, Menke-Hennekam, Type 1 39

Characteristics:

OMIM®:

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

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


HPO:

31
menke-hennekam syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



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). Affiliated tissues include eye, and related phenotypes are intellectual disability and scoliosis

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) (Updated 05-Mar-2021)

Related Diseases for Menke-Hennekam Syndrome 1

Diseases in the Menke-Hennekam Syndrome family:

Menke-Hennekam Syndrome 1 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 11.1

Symptoms & Phenotypes for Menke-Hennekam Syndrome 1

Human phenotypes related to Menke-Hennekam Syndrome 1:

31 (show top 50) (show all 63)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 scoliosis 31 very rare (1%) HP:0002650
3 ptosis 31 very rare (1%) HP:0000508
4 high palate 31 very rare (1%) HP:0000218
5 hearing impairment 31 very rare (1%) HP:0000365
6 cataract 31 very rare (1%) HP:0000518
7 depressed nasal bridge 31 very rare (1%) HP:0005280
8 inguinal hernia 31 very rare (1%) HP:0000023
9 hip dysplasia 31 very rare (1%) HP:0001385
10 umbilical hernia 31 very rare (1%) HP:0001537
11 short nose 31 very rare (1%) HP:0003196
12 anteverted nares 31 very rare (1%) HP:0000463
13 thick eyebrow 31 very rare (1%) HP:0000574
14 blindness 31 very rare (1%) HP:0000618
15 flexion contracture 31 very rare (1%) HP:0001371
16 gastroesophageal reflux 31 very rare (1%) HP:0002020
17 prominent forehead 31 very rare (1%) HP:0011220
18 full cheeks 31 very rare (1%) HP:0000293
19 recurrent upper respiratory tract infections 31 very rare (1%) HP:0002788
20 strabismus 31 very rare (1%) HP:0000486
21 cleft palate 31 very rare (1%) HP:0000175
22 flat face 31 very rare (1%) HP:0012368
23 cryptorchidism 31 very rare (1%) HP:0000028
24 micrognathia 31 very rare (1%) HP:0000347
25 low-set ears 31 very rare (1%) HP:0000369
26 epicanthus 31 very rare (1%) HP:0000286
27 joint hypermobility 31 very rare (1%) HP:0001382
28 downslanted palpebral fissures 31 very rare (1%) HP:0000494
29 depressed nasal ridge 31 very rare (1%) HP:0000457
30 upslanted palpebral fissure 31 very rare (1%) HP:0000582
31 sandal gap 31 very rare (1%) HP:0001852
32 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
33 overfolded helix 31 very rare (1%) HP:0000396
34 thin upper lip vermilion 31 very rare (1%) HP:0000219
35 long philtrum 31 very rare (1%) HP:0000343
36 protruding ear 31 very rare (1%) HP:0000411
37 deeply set eye 31 very rare (1%) HP:0000490
38 deep philtrum 31 very rare (1%) HP:0002002
39 short philtrum 31 very rare (1%) HP:0000322
40 telecanthus 31 very rare (1%) HP:0000506
41 blepharophimosis 31 very rare (1%) HP:0000581
42 tethered cord 31 very rare (1%) HP:0002144
43 everted upper lip vermilion 31 very rare (1%) HP:0010803
44 narrow nasal bridge 31 very rare (1%) HP:0000446
45 underdeveloped nasal alae 31 very rare (1%) HP:0000430
46 long eyelashes 31 very rare (1%) HP:0000527
47 sparse hair 31 very rare (1%) HP:0008070
48 feeding difficulties 31 very rare (1%) HP:0011968
49 short columella 31 very rare (1%) HP:0002000
50 autistic behavior 31 very rare (1%) HP:0000729

Symptoms via clinical synopsis from OMIM®:

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

Head And Neck Eyes:
ptosis
strabismus
telecanthus
blepharophimosis
long eyelashes
more
Head And Neck Mouth:
high palate
cupid bow lip
thin vermillion upper lip

Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nares
depressed nasal ridge
narrow nasal bridge
more
Head And Neck Head:
microcephaly

Head And Neck Face:
prominent forehead
full cheeks
micrognathia

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

Skin Nails Hair Hair:
long eyelashes
sparse hair
thick eyebrows

Respiratory:
recurrent upper airway infections

Skeletal Spine:
scoliosis
kyphosis

Abdomen Gastrointestinal:
constipation
feeding problems

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
autism

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Skeletal Hands:
fifth finger clinodactyly
ulnar deviation of fingers

Clinical features from OMIM®:

618332 (Updated 05-Mar-2021)

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

MalaCards organs/tissues related to Menke-Hennekam Syndrome 1:

40
Eye

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 57
30737887 2019
2
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. 57 6
29460469 2018
3
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 57 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.5128T>C (p.Cys1710Arg) SNV Pathogenic 619090 rs1567265203 16:3781237-3781237 16:3731236-3731236
2 CREBBP NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) SNV Pathogenic 429336 rs1131691326 16:3779448-3779448 16:3729447-3729447
3 CREBBP NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp) SNV Pathogenic 265346 rs886039491 16:3779446-3779446 16:3729445-3729445
4 CREBBP NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) SNV Pathogenic 209145 rs797045037 16:3779434-3779434 16:3729433-3729433
5 CREBBP NM_004380.3(CREBBP):c.5170G>A (p.Glu1724Lys) SNV Pathogenic 619094 rs1567265131 16:3781195-3781195 16:3731194-3731194
6 CREBBP NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) SNV Likely pathogenic 521543 rs1064794963 16:3779682-3779682 16:3729681-3729681
7 CREBBP NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr) SNV Likely pathogenic 591453 rs1567263529 16:3779704-3779704 16:3729703-3729703

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 rs156726520
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 rs156726513
13 CREBBP p.Ala1782Val VAR_081981
14 CREBBP p.His1829Asp VAR_081982
15 CREBBP p.Arg1868Gln VAR_081984 rs156726316
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
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
Content
Loading form....