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HLD4
MCID: LKD008
MIFTS: 37
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Leukodystrophy, Hypomyelinating, 4 (HLD4)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 4:
Characteristics:Orphanet epidemiological data:60
pelizaeus-merzbacher-like disease due to hspd1 mutation
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood; OMIM:58
Inheritance:
autosomal recessive
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 HPO:33
leukodystrophy, hypomyelinating, 4:
Onset and clinical course neonatal onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
34
35
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UniProtKB/Swiss-Prot
:
76
Leukodystrophy, hypomyelinating, 4: A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. 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 leukodystrophy and sennetsu fever, and has symptoms including seizures, apnea and shallow breathing. An important gene associated with Leukodystrophy, Hypomyelinating, 4 is HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1), and among its related pathways/superpathways are Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and Validated targets of C-MYC transcriptional activation. Affiliated tissues include brain and eye, and related phenotypes are nystagmus and seizures Disease Ontology : 12 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.
Description from OMIM:
612233
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Human phenotypes related to Leukodystrophy, Hypomyelinating, 4:33 (show all 16)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:612233UMLS symptoms related to Leukodystrophy, Hypomyelinating, 4:seizures, apnea, shallow breathing |
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 4:42
Brain,
Eye
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Articles related to Leukodystrophy, Hypomyelinating, 4:
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Genes related to Leukodystrophy, Hypomyelinating, 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 4:76
ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 4:6
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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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