Details of Disease | DrugMAP

General Information of Disease (ID: DISM7VEP)

Disease Name	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Synonyms	dentoleukoencephalopathy; 4H syndrome; hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism; leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition; hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome; ataxia, delayed dentition, and hypomyelination; leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; HLD7; ataxia-delayed dentition-hypomyelination syndrome; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy
Definition	A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.
Disease Hierarchy	DISVY1TT: Leukodystrophy DISM7VEP: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Disease Identifiers	MONDO ID MONDO_0011897 MESH ID C567313 UMLS CUI C2676243 OMIM ID 607694 MedGen ID 390993 Orphanet ID 137639 SNOMED CT ID 721846006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLR1C	OT7DVQB0	Strong	GermlineCausalMutation	[1]
POLR3A	OT5MSK10	Strong	Autosomal recessive	[2]
POLR3B	OT3FS9MB	Strong	Genetic Variation	[3]
RNF216	OTR1XEZ3	Definitive	Genetic Variation	[4]
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References

1	Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623.
2	Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014.
3	A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.BMC Pediatr. 2018 Apr 4;18(1):126. doi: 10.1186/s12887-018-1108-9.
4	Mutations in RNF216 do not cause 4H syndrome.Parkinsonism Relat Disord. 2015 Nov;21(11):1387-8. doi: 10.1016/j.parkreldis.2015.09.014. Epub 2015 Sep 4.