Details of Disease | DrugMAP

General Information of Disease (ID: DISKRXK4)

Disease Name	Temple-Baraitser syndrome
Synonyms	mental retardation, severe, and absent nails of hallux and pollex; severe mental retardation and absent nails of hallux and pollex; severe intellectual disability and absent nails of hallux and pollex; intellectual disability, severe, and absent nails of hallux and pollex; severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS; Temple-Baraitser syndrome
Definition	A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.
Disease Hierarchy	DISFCDLI: KCNH1 associated disorder DISKRXK4: Temple-Baraitser syndrome
Disease Identifiers	MONDO ID MONDO_0012735 MESH ID C567516 UMLS CUI C2678486 OMIM ID 611816 MedGen ID 395636 Orphanet ID 420561 SNOMED CT ID 725140007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNH1	TT9XKUC	Limited	Genetic Variation	[1]
KCNH1	TT9XKUC	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNH1	OTZZXWER	Strong	Autosomal dominant	[2]
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References

1	De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.J Hum Genet. 2016 May;61(5):381-7. doi: 10.1038/jhg.2016.1. Epub 2016 Jan 28.
2	Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet. 2015 Jan;47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24.