HLD11
MCID: LKD021
MIFTS: 24
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Leukodystrophy, Hypomyelinating, 11 (HLD11)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 11:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in first years of life some patients may show deterioration with infections HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
33
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OMIM
:
57
Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616494)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 11, is also known as hld11. An important gene associated with Leukodystrophy, Hypomyelinating, 11 is POLR1C (RNA Polymerase I And III Subunit C). Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and ataxia Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has material basis in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. UniProtKB/Swiss-Prot : 75 Leukodystrophy, hypomyelinating, 11: An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616494Human phenotypes related to Leukodystrophy, Hypomyelinating, 11:32 (show all 10)
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 11:41
Brain,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 11:75 (show all 11)
ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 11:6 (show all 20)
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 11.
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