Details of Disease

General Information of Disease (ID: DISUVCMS)

• Disease Name: Obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
• Synonyms: 4H syndrome
• Definition: OBSOLETE. Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterized by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISUVCMS: Obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLR1C	OT7DVQB0	Supportive	Autosomal recessive	[1]
POLR3A	OT5MSK10	Supportive	Autosomal recessive	[2]
POLR3B	OT3FS9MB	Supportive	Autosomal recessive	[3]

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] POLR3-Related Leukodystrophy. 2012 Aug 2 [updated 2017 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.