HLD12
MCID: LKD023
MIFTS: 37
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Leukodystrophy, Hypomyelinating, 12 (HLD12)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 12:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset between 3 and 8 months of age increased frequency in ashkenazi jewish population HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases
Orphanet: 58
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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. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 12:58 31 (show all 39)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616683GenomeRNAi Phenotypes related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:26 (show all 13)
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 12:40
Brain
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Articles related to Leukodystrophy, Hypomyelinating, 12:
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 12:6
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 12:73
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 12.
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Pathways related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:
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Cellular components related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:
Biological processes related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:
Molecular functions related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:
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