HLD12
MCID: LKD023
MIFTS: 42
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Leukodystrophy, Hypomyelinating, 12 (HLD12)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 12:
Characteristics:Inheritance:
Leukodystrophy, Hypomyelinating, 12:
Autosomal recessive 57
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy:
Autosomal recessive 58
Prevelance:
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy:
<1/1000000 (Worldwide) 58
Age Of Onset:
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy:
Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy increased frequency in ashkenazi jewish population Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases Eye diseases Ear diseases Muscle diseases
ICD10:
32
Orphanet: 58
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OMIM®: 57 Hypomyelinating leukodystrophy-12 (HLD12) 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. In a review of the pathogenesis of disorders with prominent dystonia or opisthotonic posturing as a feature, Monfrini et al. (2021) classified HLD12 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11. (616683) (Updated 08-Dec-2022) MalaCards based summary: Leukodystrophy, Hypomyelinating, 12, also known as hypomyelinating leukodystrophy 12, is related to pelizaeus-merzbacher disease and hypomyelinating leukodystrophy. 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 Nanog in Mammalian ESC Pluripotency and Beta-Adrenergic Signaling. Affiliated tissues include brain and peripheral nerve, and related phenotypes are intellectual disability and global developmental delay Orphanet: 58 A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities. Disease Ontology: 11 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 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 30 (show all 40)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:616683 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:25 (show all 35)
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Organs/tissues related to Leukodystrophy, Hypomyelinating, 12:
MalaCards :
Brain
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Articles related to Leukodystrophy, Hypomyelinating, 12:
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 12:5 (show all 15)
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 12:73
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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:(show all 11)
Molecular functions related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:
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