HLD4
MCID: LKD008
MIFTS: 39
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Leukodystrophy, Hypomyelinating, 4 (HLD4)
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, 4:
Characteristics:Inheritance:
Leukodystrophy, Hypomyelinating, 4:
Autosomal recessive 57
Pelizaeus-Merzbacher-Like Disease Due to Hspd1 Mutation:
Autosomal recessive 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset between birth and 3 months of age usually fatal in first 2 decades exacerbation during febrile episodes allelic disorder to autosomal dominant spg13 Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases Mental diseases
ICD10:
31
32
Orphanet: 58
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UniProtKB/Swiss-Prot: 73 A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound intellectual disability. Death usually occurs within the first two decades of life. MalaCards based summary: Leukodystrophy, Hypomyelinating, 4, also known as mitochondrial hsp60 chaperonopathy, is related to pelizaeus-merzbacher-like disease and leukodystrophy, hypomyelinating, 2, and has symptoms including apnea, seizures and shallow breathing. An important gene associated with Leukodystrophy, Hypomyelinating, 4 is HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1). Affiliated tissues include brain and peripheral nerve, and related phenotypes are seizure and hyperreflexia Disease Ontology: 11 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has material basis in homozygous mutation in the HSPD1 gene on chromosome 2q33. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 4:30 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:612233 (Updated 08-Dec-2022)UMLS symptoms related to Leukodystrophy, Hypomyelinating, 4:apnea; seizures; shallow breathing |
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Organs/tissues related to Leukodystrophy, Hypomyelinating, 4:
MalaCards :
Brain
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Articles related to Leukodystrophy, Hypomyelinating, 4:
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 4:5
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 4:73
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 4.
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Cellular components related to Leukodystrophy, Hypomyelinating, 4 according to GeneCards Suite gene sharing:
Biological processes related to Leukodystrophy, Hypomyelinating, 4 according to GeneCards Suite gene sharing:
Molecular functions related to Leukodystrophy, Hypomyelinating, 4 according to GeneCards Suite gene sharing:
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