Aspartylglucosaminuria

disorder

SNOMED 54954004CUI C0268225

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.

Reduced tissue aspartylglucosaminidase activity

Always present (100%)HP:6000573

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Amino acid levels abnormal

Very frequent (80-99%)HP:0004337

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Delayed language development

Very frequent (80-99%)HP:0000750

Distortion of face

Very frequent (80-99%)HP:0001999

Dyskinesia

Very frequent (80-99%)HP:0100660

Gingival hyperplasia

Very frequent (80-99%)HP:0000212

High urine aspartylglucosamine levels

Very frequent (80-99%)HP:0012068

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Large facies

Very frequent (80-99%)HP:0100729

Mandibular hyperplasia

Very frequent (80-99%)HP:0000303

Microtia

Very frequent (80-99%)HP:0008551

Prominent lips

Very frequent (80-99%)HP:0012471

Small nose

Very frequent (80-99%)HP:0003196

Umbilical hernia

Very frequent (80-99%)HP:0001537

Abnormal compact bone morphology

Frequent (30-79%)HP:0003103

Abnormal morphology of ulna

Frequent (30-79%)HP:0040071

Anterior tongue-like protrusion of lumbar vertebral bodies

Frequent (30-79%)HP:0008430

Dental anomalies

Frequent (30-79%)HP:0000164

Dental cavities

Frequent (30-79%)HP:0000670

Increased thickness of cranium

Frequent (30-79%)HP:0002684

Large testis

Frequent (30-79%)HP:0000053

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Pectus carinatum

Frequent (30-79%)HP:0000768

Thickened facial skin with coarse facial features

Frequent (30-79%)HP:0000280

Beaking of vertebral bodies

Occasional (5-29%)HP:0004568

Behavioral changes

Occasional (5-29%)HP:0000708

Chronic ear infection

Occasional (5-29%)HP:0000389

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Oligosaccharidosis(parent)

Hereditary disorder of musculoskeletal system(parent)

Disease of bone AND/OR joint(parent)

Inherited metabolic disorder of nervous system(parent)

Quick Facts

SNOMED CT: 54954004
UMLS CUI: C0268225
Fully Specified Name: Aspartylglucosaminuria (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.