Aase syndrome

disorder

SNOMED 71988008CUI C0265265

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.

Elevated red cell adenosine deaminase activity

Very frequent (80-99%)HP:0030270

Red cell aplasia

Very frequent (80-99%)HP:0012410

Abnormal head

Frequent (30-79%)HP:0000234

Birth weight less than 10th percentile

Frequent (30-79%)HP:0001518

Erythroid hypoplasia in the bone marrow

Frequent (30-79%)HP:0012133

Inactivity

Frequent (30-79%)HP:0001254

Increased MCV

Frequent (30-79%)HP:0005518

Macrocytic dyserythropoietic anemia

Frequent (30-79%)HP:0005532

Paleness

Frequent (30-79%)HP:0000980

Persistence of haemoglobin F

Frequent (30-79%)HP:0011904

Retarded growth

Frequent (30-79%)HP:0001510

Reticulocytopenia

Frequent (30-79%)HP:0001896

Abnormality of the arm

Occasional (5-29%)HP:0002817

Absent thumb

Occasional (5-29%)HP:0009777

Atria septal defect

Occasional (5-29%)HP:0001631

Bifid thumb

Occasional (5-29%)HP:0009944

Cardiac anomaly

Occasional (5-29%)HP:0001627

Cleft lip

Occasional (5-29%)HP:0410030

Cleft soft palate

Occasional (5-29%)HP:0000185

Decreased body height

Occasional (5-29%)HP:0004322

Fused kidneys

Occasional (5-29%)HP:0000085

High arched palate

Occasional (5-29%)HP:0000218

Hypoplastic myelodysplasia

Occasional (5-29%)HP:0002863

Hypospadias

Occasional (5-29%)HP:0000047

Leukopenia

Occasional (5-29%)HP:0001882

Neurodevelopmental delay

Occasional (5-29%)HP:0012758

Normochromic anaemia

Occasional (5-29%)HP:0001895

Pterygium colli

Occasional (5-29%)HP:0000465

Radial artery aplasia

Occasional (5-29%)HP:0020118

Renal aplasia

Occasional (5-29%)HP:0000104

Related Conditions

Hereditary neoplastic syndrome(parent)

Developmental hereditary disorder(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of cellular element of blood(parent)

Chronic constitutional pure red cell aplasia(parent)

Quick Facts

SNOMED CT: 71988008
UMLS CUI: C0265265
Fully Specified Name: Aase syndrome (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.