HLD10
MCID: LKD020
MIFTS: 47
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Leukodystrophy, Hypomyelinating, 10 (HLD10)
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, 10:
Characteristics:Inheritance:
Autosomal recessive 57
Prevelance:
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy:
<1/1000000 (Worldwide) 58
Age Of Onset:
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy:
Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder onset at birth or in first months of life death often occurs in first decade HPO:30Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases Mental diseases
Orphanet: 58
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Orphanet: 58 PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. MalaCards based summary: Leukodystrophy, Hypomyelinating, 10, also known as hypomyelinating leukodystrophy 10, is related to hypomyelinating leukodystrophy and leukodystrophy. An important gene associated with Leukodystrophy, Hypomyelinating, 10 is PYCR2 (Pyrroline-5-Carboxylate Reductase 2), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and superpathway of L-citrulline metabolism. Affiliated tissues include brain, skeletal muscle and eye, and related phenotypes are intellectual disability and failure to thrive OMIM®: 57 Hypomyelinating leukodystrophy-10 is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging (summary by Nakayama et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616420) (Updated 08-Dec-2022) Disease Ontology: 11 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has material basis in homozygous mutation in the PYCR2 gene on chromosome 1q42. UniProtKB/Swiss-Prot: 73 An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 10:58 30 (show top 50) (show all 73)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:616420 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Leukodystrophy, Hypomyelinating, 10 according to GeneCards Suite gene sharing:25 (show all 30)
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Organs/tissues related to Leukodystrophy, Hypomyelinating, 10:
MalaCards :
Brain,
Skeletal Muscle,
Eye
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Articles related to Leukodystrophy, Hypomyelinating, 10:
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 10:5 (show all 21)
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 10:73
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 10.
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Pathways related to Leukodystrophy, Hypomyelinating, 10 according to GeneCards Suite gene sharing:
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Cellular components related to Leukodystrophy, Hypomyelinating, 10 according to GeneCards Suite gene sharing:
Biological processes related to Leukodystrophy, Hypomyelinating, 10 according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to Leukodystrophy, Hypomyelinating, 10 according to GeneCards Suite gene sharing:
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