cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
MONDO:0013208Mondo
Findings
No curated finding names cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
44 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypermanganesemiaHPOHP:0032097
- 15 of 15 reported patients
- DystoniaHPOHP:0001332
- 14 of 15 reported patients
- Frequent (30% to 79% of cases)
- CirrhosisHPOHP:0001394
- 5 of 6 reported patients
- Abnormal basal ganglia MRI signal intensityHPOHP:0012751
- Frequent (30% to 79% of cases)
- Abnormal circulating inorganic divalent cation concentrationHPOHP:0010927
- Frequent (30% to 79% of cases)
- Abnormal globus pallidus morphologyHPOHP:0002453
- Frequent (30% to 79% of cases)
- Abnormal myelinationHPOHP:0012447
- Frequent (30% to 79% of cases)
- Abnormal transferrin saturationHPOHP:0040135
- Frequent (30% to 79% of cases)
- Abnormality of the liverHPOHP:0001392
- Frequent (30% to 79% of cases)
- Action tremorHPOHP:0002345
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
Show the remaining 32
- DysdiadochokinesisHPOHP:0002075
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- Esophageal varixHPOHP:0002040
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- 5 of 15 reported patients
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC30A10HGNC:25355
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021