MYSM1 deficiency

disorder

SNOMED 1177173001CUI C5567897

Overview

MYSM1 deficiency 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.

Hypoplastic bone marrow

Very frequent (80-99%)HP:0005528

Low number of red blood cells or hemoglobin

Very frequent (80-99%)HP:0001903

Absolute lymphocyte count decrease

Frequent (30-79%)HP:0001888

B cell lymphopenia

Frequent (30-79%)HP:0010976

Chronic heart failure

Frequent (30-79%)HP:0001635

Decreased body height

Frequent (30-79%)HP:0004322

Distortion of face

Frequent (30-79%)HP:0001999

Dyserythropoiesis

Frequent (30-79%)HP:0031688

Dysmegakaryopoiesis

Frequent (30-79%)HP:0031689

Hypoplastic myelodysplasia

Frequent (30-79%)HP:0002863

Leukopenia

Frequent (30-79%)HP:0001882

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Neutropoenia

Frequent (30-79%)HP:0001875

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Recurrent URI

Frequent (30-79%)HP:0002788

Reticulocytopenia

Frequent (30-79%)HP:0001896

Small cerebrum

Frequent (30-79%)HP:0006872

Thickened facial skin with coarse facial features

Frequent (30-79%)HP:0000280

Thrombocytopenia

Frequent (30-79%)HP:0001873

Abnormality of the chest

Occasional (5-29%)HP:0000765

Brachydactyly

Occasional (5-29%)HP:0001156

Broad collarbone

Occasional (5-29%)HP:0000916

Cataract

Occasional (5-29%)HP:0000518

Delayed eruption of teeth

Occasional (5-29%)HP:0000684

Eczema

Occasional (5-29%)HP:0000964

Flat midface

Occasional (5-29%)HP:0011800

Hearing impairment

Occasional (5-29%)HP:0000365

Humeral hypoplasia

Occasional (5-29%)HP:0005792

Inflammation of fat tissue

Occasional (5-29%)HP:0012490

Multiple, subcutaneous nodules

Occasional (5-29%)HP:0001482

Related Conditions

Immuno-osseous dysplasia(parent)

Genetic disease(parent)

Multiple system malformation syndrome(parent)

Myelodysplastic syndrome with low blasts(parent)

Quick Facts

SNOMED CT: 1177173001
UMLS CUI: C5567897
Fully Specified Name: Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia 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.