MKHK1
MCID: MNK005
MIFTS: 27
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Menke-Hennekam Syndrome 1 (MKHK1)
Categories:
Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Menke-Hennekam Syndrome 1:
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Nephrological diseases |
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) |
Diseases in the Menke-Hennekam Syndrome family:
Diseases related to Menke-Hennekam Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Menke-Hennekam Syndrome 1:31 (show top 50) (show all 63)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618332 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Menke-Hennekam Syndrome 1:40
Eye
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Articles related to Menke-Hennekam Syndrome 1:
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ClinVar genetic disease variations for Menke-Hennekam Syndrome 1:6
UniProtKB/Swiss-Prot genetic disease variations for Menke-Hennekam Syndrome 1:73 (show all 16)
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Search
GEO
for disease gene expression data for Menke-Hennekam Syndrome 1.
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