Krabbe disease

Preferred Label : Krabbe disease;

Symbol : KRB;

CISMeF acronym : GCL; GLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GCL; Globoid cell leukodystrophy; GLD; Globoid cell leukoencephalopathy; Galactosylceramide beta-galactosidase deficiency; Galc deficiency; Galactocerebrosidase deficiency;

Description : Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the glycosylceramidase gene (GALC, 606890.0001);

Laboratory abnormalities : Elevated cerebrospinal fluid (CSF) protein; Galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts;

Prefixed ID : #245200;

Details

Origin ID

245200;

UMLS CUI

C0023521;

Automatic exact mappings (from CISMeF team)
- Berardinelli-Seip congenital lipodystrophy [ICD-11 More detail]
- Congenital generalised lipodystrophy [ICD-11 Sub-sub category]
- Congenital generalized lipodystrophy [ORDO Disease]
- GCLC wt Allele [NCIt concept]
- galactosylceramidase [ORDO Gene]
- galactosylceramidase [HGNC gene]
Currated CISMeF NLP mapping
- Galactosylceramide beta-galactosidase deficiency (disorder) [SNOMED CT concept]
- Krabbe Disease [NCIt concept]
- Krabbe disease [PASCAL descriptor]
- Krabbe disease [DO Concept]
- Krabbe disease [Disease (Nov.)]
- Krabbe disease [ICD-11 Subcategory]
- Krabbe disease [ORDO Disease]
- Krabbe disease [LOINC component]
- Krabbe's disease [MedDRA Preferred Term]
- Other sphingolipidosis [ICD-10 Sub-category]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- globoid cell leukodystrophy, early onset [SNOMED Notion]
- leukodystrophy, globoid cell [MeSH Descriptor]
- leukodystrophy, globoid cell [MeSH concept]
DO Cross reference
- Krabbe disease [DO Concept]
Genes related to phenotype
- Galactosylceramidase [OMIM gene]
HPO term(s)
- Abnormal flash visual evoked potentials [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- CNS demyelination [HPO term]
- Chronic immune thrombocytopenia [HPO term]
- Deafness [HPO term]
- Decerebrate rigidity [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Demyelination [HPO term]
- Developmental regression [HPO term]
- Diffuse cerebral atrophy [HPO term]
- EEG abnormality [HPO term]
- Failure to thrive [HPO term]
- Hearing impairment [HPO term]
- Hydrocephalus [HPO term]
- Hyperactive deep tendon reflexes [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Increased CSF protein [HPO term]
- Motor deterioration [HPO term]
- Neurodegeneration [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Peripheral demyelination [HPO term]
- Progressive spasticity [HPO term]
- Recurrent fever [HPO term]
- Seizure [HPO term]
- Sensorimotor neuropathy [HPO term]
- Vomiting [HPO term]
Narrower ORDO disease(s)
- Adult Krabbe disease [ORDO Disease]
- Infantile Krabbe disease [ORDO Disease]
- Late-infantile/juvenile Krabbe disease [ORDO Disease]
ORDO concept(s)
- Krabbe disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Galactosylceramide beta-galactosidase deficiency (disorder) [SNOMED CT concept]
- Galactosylceramide lipidosis [MedDRA LLT]
- Krabbe Disease [NCIt concept]
- Krabbe disease [LOINC component]
- Krabbe disease [ORDO Disease]
- Krabbe disease [DO Concept]
- Krabbe disease [PASCAL descriptor]
- Krabbe disease [Disease (Nov.)]
- Krabbe disease [ICD-11 Subcategory]
- Krabbe's disease [MedDRA Preferred Term]
- leukodystrophy, globoid cell [MeSH Descriptor]
- leukodystrophy, globoid cell [MeSH concept]
Validated automatic mappings to BTNT
- Infantile Krabbe disease [ICD-11 More detail]

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