Leukodystrophy, Hypomyelinating, 12 (HLD12)

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Disease Ontology 12 DOID:0060796 OMIM 56 616683 OMIM Phenotypic Series 56 PS312080 MeSH 43 D020279

Orphanet 58 ORPHA466934 MedGen 41 C4225247 CN234869 SNOMED-CT via HPO 68 103276001 13164000 135810007 14760008 15188001 19393004 202264009 203598005 204043002 221360009 224958001 225595004 228156007 247578003 258211005 271611007 276617005 343087000 385522000 397732007 397790002 398064005 4103001 413924001 41497008 444896005 55033002 57048009 59576002 60700002 68574006 76976005 7890003 88565003 91138005 95646004 95828007 more

OMIM : ⁵⁶ Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616683)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 12, also known as hld12, is related to neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux and charcot-marie-tooth disease, axonal, type 2l. An important gene associated with Leukodystrophy, Hypomyelinating, 12 is VPS11 (VPS11 Core Subunit Of CORVET And HOPS Complexes), and among its related pathways/superpathways are Salmonella infection (KEGG) and Phagosome. Affiliated tissues include brain, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has material basis in homozygous mutation in the VPS11 gene on chromosome 11q23.

UniProtKB/Swiss-Prot : ⁷³ Leukodystrophy, hypomyelinating, 12: An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination.

Clinical features from OMIM:

616683

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-137	9.44	RAB7A
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-147	9.44	PPT2
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-148	9.44	VPS11
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-157	9.44	VPS11
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-161	9.44	VPS11
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-173	9.44	VPS11
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-194	9.44	PPT2
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-213	9.44	PPT2
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-34	9.44	VPS11
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-63	9.44	VPS11
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-73	9.44	PPT2
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-82	9.44	VPS11
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-85	9.44	PPT2

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Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 12.