Alpha-N-acetylgalactosaminidase deficiency type 2

disorder

SNOMED 880065001CUI C1836522

Overview

Alpha-N-acetylgalactosaminidase deficiency type 2 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Lacunar stroke

Always present (100%)HP:0032325

Petechiae

Always present (100%)HP:0000967

Tortuosity of conjunctival vessels

Always present (100%)HP:0000503

Dizziness

Very frequent (80-99%)HP:0002321

Epidermal hyperkeratosis

Very frequent (80-99%)HP:0000962

Fabry syndrome

Very frequent (80-99%)HP:0001071

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Papules

Very frequent (80-99%)HP:0200034

Subcutaneous nodule

Very frequent (80-99%)HP:0001482

Telangiectasia of the oral mucosa

Very frequent (80-99%)HP:0007428

Teleangiectasia of the skin

Very frequent (80-99%)HP:0100585

Concave bridge of nose

Frequent (30-79%)HP:0005280

Corneal stromal opacity

Frequent (30-79%)HP:0007759

Hearing impairment

Frequent (30-79%)HP:0000365

Increased heart size

Frequent (30-79%)HP:0001640

Onset of lymphedema around puberty

Frequent (30-79%)HP:0001004

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Prominent lips

Frequent (30-79%)HP:0012471

Ringing in ears

Frequent (30-79%)HP:0000360

Thickened facial skin with coarse facial features

Frequent (30-79%)HP:0000280

Axonal degeneration

HP:0040078

Axonal neuropathy

HP:0003477

Cerebral atrophy

HP:0002059

Cognitive deficits

HP:0100543

Distal limb muscle weakness due to peripheral neuropathy

HP:0002460

Distal sensory impairment of all modalities

HP:0003409

Increased height of lower lip vermilion

HP:0000179

Increased levels of animo acids in urine

HP:0003355

Increased urinary O-linked sialopeptides

HP:0003461

Loss of distal sensation

HP:0002936

Related Conditions

Schindler disease(parent)

Quick Facts

SNOMED CT: 880065001
UMLS CUI: C1836522
Fully Specified Name: Alpha-N-acetylgalactosaminidase deficiency type 2 (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.