LCC
MCID: LKN024
MIFTS: 36
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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:Inheritance:
Leukoencephalopathy, Brain Calcifications, and Cysts:
Autosomal recessive 57
Leukoencephalopathy with Calcifications and Cysts:
Autosomal recessive 58
Prevelance:
Leukoencephalopathy with Calcifications and Cysts:
<1/1000000 (Worldwide) 58
Age Of Onset:
Leukoencephalopathy with Calcifications and Cysts:
Adolescent,Adult,Childhood,Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder later onset has been reported onset usually in childhood highly variable severity HPO:30
leukoencephalopathy, brain calcifications, and cysts:
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®: 57 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) (Updated 08-Dec-2022) MalaCards based summary: Leukoencephalopathy, Brain Calcifications, and Cysts, also known as leukoencephalopathy with calcifications and cysts, is related to cerebroretinal microangiopathy with calcifications and cysts 1 and hepatocellular carcinoma, and has symptoms including ataxia, tremor and abnormality of extrapyramidal motor function. 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 seizure and spasticity Orphanet: 58 A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features. |
Human phenotypes related to Leukoencephalopathy, Brain Calcifications, and Cysts:58 30 (show all 30)
Clinical features from OMIM®:614561 (Updated 08-Dec-2022)UMLS symptoms related to Leukoencephalopathy, Brain Calcifications, and Cysts:ataxia; tremor; abnormality of extrapyramidal motor function; hemiplegia; seizures; muscle spasticity; abnormal pyramidal signs |
Interventional clinical trials:
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Organs/tissues related to Leukoencephalopathy, Brain Calcifications, and Cysts:
MalaCards :
Brain,
Bone,
Skin
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Articles related to Leukoencephalopathy, Brain Calcifications, and Cysts:(show top 50) (show all 58)
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ClinVar genetic disease variations for Leukoencephalopathy, Brain Calcifications, and Cysts:5 (show all 49)
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