Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency

disorder

SNOMED 767497003CUI C0268193

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.

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Increased blood lactate

Very frequent (80-99%)HP:0002151

Lacticacidemia

Very frequent (80-99%)HP:0003128

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Vomiting

Very frequent (80-99%)HP:0002013

Abnormal liver function

Frequent (30-79%)HP:0002910

Elevated circulating branched chain amino acid concentration

Frequent (30-79%)HP:0008344

Enlarged liver

Frequent (30-79%)HP:0002240

Feeding difficulties

Frequent (30-79%)HP:0011968

Hepatic encephalopathy

Frequent (30-79%)HP:0002480

Hypercoagulability

Frequent (30-79%)HP:0100724

Increased urine alpha-ketoglutarate concentration

Frequent (30-79%)HP:0012402

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Languor

Frequent (30-79%)HP:0001254

Low blood sugar

Frequent (30-79%)HP:0001943

Seizures

Frequent (30-79%)HP:0001250

Abnormal cardiac ventricular function

Occasional (5-29%)HP:0030872

Ataxia

Occasional (5-29%)HP:0001251

Behavioural disorders

Occasional (5-29%)HP:0000708

Decreased plasma carnitine

Occasional (5-29%)HP:0003234

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased visual acuity

Occasional (5-29%)HP:0007663

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Hepatic failure

Occasional (5-29%)HP:0001399

High blood ammonia levels

Occasional (5-29%)HP:0001987

High blood isoleucine concentration

Occasional (5-29%)HP:0010913

Muscle spasm

Occasional (5-29%)HP:0003394

Undergrowth

Occasional (5-29%)HP:0001508

Related Conditions

Autosomal recessive congenital methaemoglobinaemia type II(child)

Autosomal recessive congenital methemoglobinemia type I(child)

Recessive hereditary disorder (autosomal)(parent)

Congenital methemoglobinemia(parent)

Quick Facts

SNOMED CT: 767497003
UMLS CUI: C0268193
Fully Specified Name: Autosomal recessive congenital methemoglobinemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.