Mannosidosis, beta a, lysosomal

Preferred Label : Mannosidosis, beta a, lysosomal;

Symbol : MANSB;

CISMeF acronym : MANSB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BETA-MANNOSIDOSIS; Beta-mannosidase deficiency; Lysosomal beta-mannosidase deficiency;

Description : Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002) The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-mannosidase gene (MANBA, 609489.0001);

Laboratory abnormalities : Decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes; Increased urinary disaccharides (mannosyl-N-acetylglucosamine);

Prefixed ID : #248510;

Details

Origin ID

248510;

UMLS CUI

C4048196;

Currated CISMeF NLP mapping
- Beta-D-mannosidosis (disorder) [SNOMED CT concept]
- Beta-Mannosidosis [NCIt concept]
- Beta-mannosidosis [ICD-11 More detail]
- Beta-mannosidosis [ORDO Disease]
- beta mannosidosis [Disease (Nov.)]
- beta-Mannosidosis [MeSH Descriptor]
- beta-Mannosidosis [MeSH concept]
- beta-mannosidosis [DO Concept]
DO Cross reference
- beta-mannosidosis [DO Concept]
Genes related to phenotype
- Mannosidase, beta a, lysosomal [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Aggressive behavior [HPO term]
- Angiokeratoma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Deafness [HPO term]
- Demyelinating peripheral neuropathy [HPO term]
- Demyelinating peripheral neuropathy, progressive [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Histological abnormality of the skin [HPO term]
- Hyperactivity [HPO term]
- Hypotonia [HPO term]
- Increased urinary disaccharide excretion [HPO term]
- Intellectual disability [HPO term]
- Minor facial dysmorphism [HPO term]
- Neurological speech impairment [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Tortuosity of conjunctival vessels [HPO term]
ORDO concept(s)
- Beta-mannosidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-D-mannosidosis (disorder) [SNOMED CT concept]
- Beta-Mannosidosis [NCIt concept]
- Beta-mannosidosis [ORDO Disease]
- Beta-mannosidosis [ICD-11 More detail]
- beta mannosidosis [Disease (Nov.)]
- beta-Mannosidosis [MeSH Descriptor]
- beta-mannosidosis [DO Concept]
Validated automatic mappings to NTBT
- beta mannosidosis [Disease (Nov.)]

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