Deficiency of alpha-mannosidase

disorder

SNOMED 124466001CUI C0024748

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 alpha-mannosidase activity

Always present (100%)HP:0034712

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Deafness

Very frequent (80-99%)HP:0000365

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Depressed nasal root/bridge

Very frequent (80-99%)HP:0005280

Enlarged liver

Very frequent (80-99%)HP:0002240

Enlargement of craniofacial bones

Very frequent (80-99%)HP:0004493

Hypoplastic inferior ilia

Very frequent (80-99%)HP:0008821

Large spleen

Very frequent (80-99%)HP:0001744

Lens opacities

Very frequent (80-99%)HP:0000518

Lingual hyperplasia

Very frequent (80-99%)HP:0000158

Mega cisterna magna

Very frequent (80-99%)HP:0002280

NIDDM

Very frequent (80-99%)HP:0005978

Poor school performance

Very frequent (80-99%)HP:0001249

Scarring or clouding of the cornea of the eye

Very frequent (80-99%)HP:0007957

Thickened facial skin with coarse facial features

Very frequent (80-99%)HP:0000280

Behavioral changes

Frequent (30-79%)HP:0000708

Bowed long bones

Frequent (30-79%)HP:0006487

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Chronic middle ear infection

Frequent (30-79%)HP:0000389

Developmental dysplasia of the hip

Frequent (30-79%)HP:0001385

Generalized abnormality of skin

Frequent (30-79%)HP:0011354

Gum enlargement

Frequent (30-79%)HP:0000212

Helix abnormal

Frequent (30-79%)HP:0011039

Hunched back

Frequent (30-79%)HP:0002808

Hypertrophy of supraorbital margins

Frequent (30-79%)HP:0000336

Increased distance between eyes

Frequent (30-79%)HP:0000316

Infratentorial atrophy

Frequent (30-79%)HP:0001272

Inguinal hernia

Frequent (30-79%)HP:0000023

Large pinnae

Frequent (30-79%)HP:0000400

Related Conditions

Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT: 124466001
UMLS CUI: C0024748
Fully Specified Name: Deficiency of alpha-mannosidase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.