Beta-D-mannosidosis

disorder

SNOMED 238047006CUI C4048196

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased circulating beta-mannosidase activity

Always present (100%)HP:0034367

Hyperactive behaviour

Always present (100%)HP:0000752

Reduced beta-mannosidase activity in cultured fibroblasts

Always present (100%)HP:4000205

Deafness

Very frequent (80-99%)HP:0000365

Hypoplasia of the abdominal wall musculature

Very frequent (80-99%)HP:0005247

Mental-retardation

Very frequent (80-99%)HP:0001249

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Demyelinating peripheral neuropathy

Occasional (5-29%)HP:0007108

Epilepsy

Occasional (5-29%)HP:0001250

Funny looking face

Occasional (5-29%)HP:0001999

Abnormal vocalization

HP:0002167

Angiokeratomas

HP:0001014

Generalised decreased muscle tone

HP:0001290

Increased urinary disaccharide excretion

HP:0012066

Peripheral hypotonia

HP:0001252

physical aggression

HP:0000718

Susceptibility to infection

HP:0002719

Tortuosity of conjunctival vessels

HP:0000503

Related Conditions

Oligosaccharidosis(parent)

Developmental delay(parent)

Congenital hearing disorder(parent)

Developmental hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 238047006
UMLS CUI: C4048196
Fully Specified Name: Beta-D-mannosidosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.