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HLD13
MCID: LKD022
MIFTS: 24
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Leukodystrophy, Hypomyelinating, 13 (HLD13)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 13:
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy sudden death may occur three families of ashkenazi jewish descent have been reported (last curated march 2016) HPO:31
leukodystrophy, hypomyelinating, 13:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases |
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OMIM® :
57
Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616881) (Updated 20-May-2021)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 13, is also known as hld13. An important gene associated with Leukodystrophy, Hypomyelinating, 13 is HIKESHI (Heat Shock Protein Nuclear Import Factor Hikeshi). Affiliated tissues include eye, brain and heart, and related phenotypes are ataxia and visual impairment Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has material basis in homozygous mutation in the C11ORF73 gene on chromosome 11q14. UniProtKB/Swiss-Prot : 72 Leukodystrophy, hypomyelinating, 13: An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 13:31 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:616881 (Updated 20-May-2021) |
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 13:40
Eye,
Brain,
Heart
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Articles related to Leukodystrophy, Hypomyelinating, 13:
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Genes related to Leukodystrophy, Hypomyelinating, 13 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 13:6
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 13:72
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 13.
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