LCC
MCID: LKN024
MIFTS: 30
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Leukoencephalopathy, Brain Calcifications, and Cysts (LCC)
Categories:
Bone diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukoencephalopathy, Brain Calcifications, and Cysts:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset usually in childhood highly variable severity later onset has been reported HPO:31
leukoencephalopathy, brain calcifications, and cysts:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Bone diseases
Orphanet: 58
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OMIM :
56
Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).
See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC; 612199), an autosomal recessive disorder caused by mutation in the CTC1 gene (613129) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012). (614561)
MalaCards based summary : Leukoencephalopathy, Brain Calcifications, and Cysts, also known as labrune syndrome, is related to lethal congenital contracture syndrome 1 and cerebroretinal microangiopathy with calcifications and cysts 1, and has symptoms including seizures, ataxia and tremor. An important gene associated with Leukoencephalopathy, Brain Calcifications, and Cysts is SNORD118 (Small Nucleolar RNA, C/D Box 118). Affiliated tissues include brain, bone and skin, and related phenotypes are global developmental delay and gait disturbance |
Human phenotypes related to Leukoencephalopathy, Brain Calcifications, and Cysts:31 (show all 15)
UMLS symptoms related to Leukoencephalopathy, Brain Calcifications, and Cysts:seizures, ataxia, tremor, abnormality of extrapyramidal motor function, hemiplegia, muscle spasticity, abnormal pyramidal signs |
Interventional clinical trials:
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MalaCards organs/tissues related to Leukoencephalopathy, Brain Calcifications, and Cysts:40
Brain,
Bone,
Skin
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Articles related to Leukoencephalopathy, Brain Calcifications, and Cysts:(show all 21)
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ClinVar genetic disease variations for Leukoencephalopathy, Brain Calcifications, and Cysts:6
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GEO
for disease gene expression data for Leukoencephalopathy, Brain Calcifications, and Cysts.
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