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HLD13
MCID: LKD022
MIFTS: 26
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Leukodystrophy, Hypomyelinating, 13 (HLD13)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 13:
Characteristics:OMIM:57
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:32
leukodystrophy, hypomyelinating, 13:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases |
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OMIM
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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)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 13, also known as hld13, is related to leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism. An important gene associated with Leukodystrophy, Hypomyelinating, 13 is HIKESHI (Hikeshi, Heat Shock Protein Nuclear Import Factor). Affiliated tissues include brain, heart and eye, and related phenotypes are nystagmus and ataxia 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 : 75 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. |
Diseases in the Hypomyelinating Leukodystrophy family:Diseases related to Leukodystrophy, Hypomyelinating, 13 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616881Human phenotypes related to Leukodystrophy, Hypomyelinating, 13:32 (show all 15)
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 13:41
Brain,
Heart,
Eye
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Genes related to Leukodystrophy, Hypomyelinating, 13 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 13:75
ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 13:6
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 13.
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