Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (HLD8)

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OMIM 57 614381 Disease Ontology 12 DOID:0060797 ICD10 33 G11.1 MedGen 42 C3280644 CN119427

MeSH 44 D020279 SNOMED-CT via HPO 69 258211005 33927004 57190000 81756001 64969001 5639000 86765009 221360009 397790002 8011004 95646004 32566006 86854008 288939007 40739000 23133003 204043002 30721006 192781003 237836003 more UMLS 73 C3280644

OMIM : ⁵⁷ Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011). See also HLD7 (607694), which has similar features and is caused by mutation in the POLR3A gene (614258) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III. For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (614381)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism, also known as hld8, is related to pol iii-related leukodystrophies and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, and has symptoms including tremor, dysdiadochokinesis and cerebellar ataxia. An important gene associated with Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism is POLR3B (RNA Polymerase III Subunit B). Affiliated tissues include brain and eye, and related phenotypes are spasticity and dysarthria

Disease Ontology : ¹² A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has material basis in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.

UniProtKB/Swiss-Prot : ⁷⁵ Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism: An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism.

Clinical features from OMIM:

614381

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	10	CYP2D6
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-179	10	CYP2D6
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-181	10	CYP2D6 POLR3B
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-184	10	CYP2D6
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-212	10	CYP2D6 POLR3B
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	10	POLR3B
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-22	10	POLR3B
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-26	10	CYP2D6
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-40	10	POLR3B
10	Synthetic lethal with c-Myc after tamoxifen stimulation	GR00215-A	8.62	CYP2D6 LMOD1

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism.