Hypermanganesemia with dystonia, polycythaemia, and cirrhosis

disorder

SNOMED 702377007CUI C2750442

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.

Increased blood manganese concentration

Always present (100%)HP:0032097

Cirrhosis

Very frequent (80-99%)HP:0001394

Abnormal basal ganglia MRI signal intensity

Frequent (30-79%)HP:0012751

Abnormal globus pallidus morphology

Frequent (30-79%)HP:0002453

Abnormal myelination

Frequent (30-79%)HP:0012447

Abnormal transferrin saturation

Frequent (30-79%)HP:0040135

Abnormality of divalent inorganic cation homeostasis

Frequent (30-79%)HP:0010927

Abnormality of the liver

Frequent (30-79%)HP:0001392

Ataxic tremor

Frequent (30-79%)HP:0002345

Decreased facial muscle movement

Frequent (30-79%)HP:0000338

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dysdiadochokinesis

Frequent (30-79%)HP:0002075

Dystonic disease

Frequent (30-79%)HP:0001332

Enlarged liver

Frequent (30-79%)HP:0002240

Esophageal varix

Frequent (30-79%)HP:0002040

Gait disturbance

Frequent (30-79%)HP:0001288

Increased liver function tests

Frequent (30-79%)HP:0002910

Increased red blood cells

Frequent (30-79%)HP:0001901

Large spleen

Frequent (30-79%)HP:0001744

Micronodular cirrhosis

Frequent (30-79%)HP:0001413

Muscle rigidity

Frequent (30-79%)HP:0002063

Neuropathy

Frequent (30-79%)HP:0009830

Portal hypertension

Frequent (30-79%)HP:0001409

Postural instability

Frequent (30-79%)HP:0002172

Slowness of movements

Frequent (30-79%)HP:0002067

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Abnormality of coagulation

Occasional (5-29%)HP:0001928

Amino acid levels abnormal

Occasional (5-29%)HP:0004337

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Copper accumulation in liver

Occasional (5-29%)HP:0025321

Related Conditions

Hypermanganesemia with dystonia(parent)

Quick Facts

SNOMED CT: 702377007
UMLS CUI: C2750442
Fully Specified Name: Hypermanganesemia with dystonia, polycythemia, and cirrhosis (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.