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

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618332

OMIM Phenotypic Series ⁵⁶ PS618332

MeSH ⁴³ D000015

MedGen ⁴¹ CN258217

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).

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)

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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

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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

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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

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Anatomical Context for Menke-Hennekam Syndrome 1

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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 ⁵⁶	Angius A...Crisponi L	30737887	2019
2	Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. ⁶ ⁵⁶	Menke LA...Hennekam RC	29460469	2018
3	CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. ⁵⁶ 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	PubmedIds
1	CREBBP	CREB Binding Protein	Protein Coding	1218.95	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	30737887 29460469 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.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

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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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⁷⁴ Wikipedia

Menke-Hennekam Syndrome 1 (MKHK1)

Aliases & Classifications for Menke-Hennekam Syndrome 1

MalaCards integrated aliases for Menke-Hennekam Syndrome 1:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Menke-Hennekam Syndrome 1

Related Diseases for Menke-Hennekam Syndrome 1

Diseases in the Menke-Hennekam Syndrome 1 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

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

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