Menke-Hennekam Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MKHK1 MCID: MNK005 MIFTS: 27	Menke-Hennekam Syndrome 1 (MKHK1) Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618332

OMIM Phenotypic Series ⁵⁷ PS618332

MeSH ⁴⁴ D000015

MedGen ⁴¹ C5193034 CN258217

SNOMED-CT via HPO ⁶⁸ 103276001 109444001 111266001 more

EFO ¹⁷ EFO_0010252

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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)

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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

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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)

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Drugs & Therapeutics for Menke-Hennekam Syndrome 1

Search Clinical Trials , NIH Clinical Center for Menke-Hennekam Syndrome 1

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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

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Anatomical Context for Menke-Hennekam Syndrome 1

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

⁴⁰

Eye

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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	Angius A...Crisponi L	30737887	2019
2	Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. ⁵⁷ ⁶	Menke LA...Hennekam RC	29460469	2018
3	CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. ⁵⁷ ⁶	Menke LA...Hennekam RC	27311832	2016

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Genes for Menke-Hennekam Syndrome 1

Genes related to Menke-Hennekam Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CREBBP	CREB Binding Protein	Protein Coding	1343.75	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	27311832

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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

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Expression for Menke-Hennekam Syndrome 1

Search GEO for disease gene expression data for Menke-Hennekam Syndrome 1.

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Pathways for Menke-Hennekam Syndrome 1

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GO Terms for Menke-Hennekam Syndrome 1

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Sources for Menke-Hennekam Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹² Disease Ontology

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Menke-Hennekam Syndrome 1 (MKHK1)

Aliases & Classifications for Menke-Hennekam Syndrome 1

MalaCards integrated aliases for Menke-Hennekam Syndrome 1:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Menke-Hennekam Syndrome 1

Related Diseases for Menke-Hennekam Syndrome 1

Diseases in the Menke-Hennekam Syndrome family:

Diseases related to Menke-Hennekam Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Menke-Hennekam Syndrome 1

Human phenotypes related to Menke-Hennekam Syndrome 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Menke-Hennekam Syndrome 1

Genetic Tests for Menke-Hennekam Syndrome 1

Genetic tests related to Menke-Hennekam Syndrome 1:

Anatomical Context for Menke-Hennekam Syndrome 1

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

Publications for Menke-Hennekam Syndrome 1

Articles related to Menke-Hennekam Syndrome 1:

Genes for Menke-Hennekam Syndrome 1

Genes related to Menke-Hennekam Syndrome 1 (1 elite genes):

Variations for Menke-Hennekam Syndrome 1

ClinVar genetic disease variations for Menke-Hennekam Syndrome 1:

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

Expression for Menke-Hennekam Syndrome 1

Pathways for Menke-Hennekam Syndrome 1

GO Terms for Menke-Hennekam Syndrome 1

Sources for Menke-Hennekam Syndrome 1