Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | |
| fr | Syndrome de cirrhose-dystonie-polycythémie-hypermanganésémie | |
| de | Zirrhose-Dystonie-Polyzythämie-Hypermanganämie-Syndrom | |
| es | Síndrome de cirrosis-distonía-policitemia-hipermanganesemia | |
| it | Sindrome cirrosi-distonia-policitemia-ipermagnesemia | |
| nl | Cirrose - dystonie - polycytemie - hypermanganesemie-syndroom | |
| pt | Síndrome de cirrose - distonia - policitémia - hipermanganesémia | |
| pl | Zespół marskość wątroby-dystonia-policytemia-hipermanganemia | |
| cs | Syndrom zahrnující cirhózu, dystonii, polycytémii a hypermanganémii | |
| uk | Синдром цирозу печінки-дистонії-поліцитемії-гіперманганеземії | |
| zh | 肝硬化-肌张力障碍-红细胞增多症-高锰血症综合征 | |
| tr | Siroz-distoni-polisitemi-hipermanganezemi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613280 | E | validated | |
| ICD-10 | E83.8 | NTBT | attributed | validated |
| ICD-11 | 5C64.40 | NTBT | attributed | validated |
| MONDO | 0013208 | E | validated | |
| MeSH | C548016 | E | validated | |
| UMLS | C2750442 | E | validated | |
| GARD | 10706 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:309851Disorder of manganese transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases - ORPHA:307055Rare parkinsonian syndrome due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306666Rare parkinsonian syndrome due to neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC30A10 | Disease-causing germline mutation(s) in | Assessed | HGNC:25355 | ENSG00000196660 | 611146 | 1q41 | solute carrier family 30 member 10 | 22341972[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 22934317[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22934317[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
39 annotations · validated 2018-06-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0010927 | Abnormal blood inorganic cation concentration | |
| HP:0002453 | Abnormal globus pallidus morphology | |
| HP:0012447 | Abnormal myelination | |
| HP:0040135 | Abnormal transferrin saturation | |
| HP:0001392 | Abnormality of the liver | |
| HP:0002345 | Action tremor | |
| HP:0002067 | Bradykinesia | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001332 | Dystonia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002040 | Esophageal varix | |
| HP:0001288 | Gait disturbance | |
| HP:0002240 | Hepatomegaly | |
| HP:0001276 | Hypertonia | |
| HP:0000338 | Hypomimic face | |
| HP:0001413 | Micronodular cirrhosis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001901 | Polycythemia | |
| HP:0001409 | Portal hypertension | |
| HP:0002172 | Postural instability | |
| HP:0002063 | Rigidity | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0004337 | Abnormality of amino acid metabolism | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0002446 | Astrocytosis | |
| HP:0025321 | Copper accumulation in liver | |
| HP:0012343 | Decreased serum ferritin | |
| HP:0002154 | Hyperglycinemia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0025196 | Increased total iron binding capacity | |
| HP:0000952 | Jaundice | |
| HP:0100513 | Low levels of vitamin E | |
| HP:0000252 | Microcephaly | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0002313 | Spastic paraparesis | |
| HP:0002078 | Truncal ataxia | |
Annotation source: 18392750[PMID]_24599576[PMID]_22341972[PMID]_22341971[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309854
- This record as JSON: /data/d/309854.json