Leukoencephalopathy, brain calcifications, and cysts

Preferred Label : Leukoencephalopathy, brain calcifications, and cysts;

Symbol : LCC;

CISMeF acronym : LCC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Labrune syndrome;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the small nucleolar RNA, C/D box, 118 gene (SNORD118, 616663.0001);

Prefixed ID : #614561;

Details

Origin ID

614561;

UMLS CUI

C3281200;

Automatic exact mappings (from CISMeF team)
- Leukoencephalopathy Brain Calcifications and Cysts [MeSH concept]
- Leukoencephalopathy with calcifications and cysts [ORDO Disease]
CISMeF manual mappings
- Leukoencephalopathy Brain Calcifications and Cysts [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Labrune syndrome [MedDRA Preferred Term]
- Leukoencephalopathy with calcifications and cysts (disorder) [SNOMED CT concept]
- cerebroretinal microangiopathy with calcifications and cysts [MeSH Supplementary Concept]
Genes related to phenotype
- Small nucleolar rna, C/d box, 118 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral calcification [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Hemiplegia [HPO term]
- Leukodystrophy [HPO term]
- Leukoencephalopathy [HPO term]
- Mental deterioration [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Leukoencephalopathy with calcifications and cysts [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Labrune syndrome [MedDRA Preferred Term]
- Leukoencephalopathy Brain Calcifications and Cysts [MeSH Supplementary Concept]
- Leukoencephalopathy with calcifications and cysts (disorder) [SNOMED CT concept]

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