Hypermanganesemia with dystonia 1

Preferred Label : Hypermanganesemia with dystonia 1;

Symbol : HMNDYT1;

CISMeF acronym : HMDPC; HMNDYT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypermanganesemia with dystonia, polycythemia, and cirrhosis; HMDPC;

Description : Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 30 (zinc transporter), member 10 gene (SLC30A10, 611146.0001);

Laboratory abnormalities : Increased serum manganese; Hyperbilirubinemia, unconjugated; Increased liver enzymes; Increased erythropoietin; Low ferritin; Low iron; Increased total iron binding capacity;

Prefixed ID : #613280;

Details

Origin ID

613280;

UMLS CUI

C2750442;

CISMeF manual mappings
- hypermanganesemia with dystonia 1 [DO Concept]
Currated CISMeF NLP mapping
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome [ORDO Disease]
- Hypermanganesemia with Dystonia Polycythemia and Cirrhosis [MeSH concept]
- Hypermanganesemia with dystonia, polycythemia, and cirrhosis (disorder) [SNOMED CT concept]
- hypermanganesemia with dystonia polycythemia and cirrhosis [MeSH Supplementary Concept]
DO Cross reference
- hypermanganesemia with dystonia 1 [DO Concept]
Genes related to phenotype
- Solute carrier family 30 (zinc transporter), member 10 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Cirrhosis [HPO term]
- Decreased liver function [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hepatomegaly [HPO term]
- Hypermanganesemia [HPO term]
- Increased total iron binding capacity [HPO term]
- Parkinsonism [HPO term]
- Polycythemia [HPO term]
- Poor fine motor coordination [HPO term]
- Postural instability [HPO term]
- Rigidity [HPO term]
- Sensorimotor neuropathy [HPO term]
- Spastic paraparesis [HPO term]
- Steppage gait [HPO term]
- Tremor [HPO term]
- Unconjugated hyperbilirubinemia [HPO term]
ORDO concept(s)
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome [ORDO Disease]
- Hypermanganesemia with Dystonia Polycythemia and Cirrhosis [MeSH concept]
- Hypermanganesemia with dystonia, polycythemia, and cirrhosis (disorder) [SNOMED CT concept]
- hypermanganesemia with dystonia 1 [DO Concept]
- hypermanganesemia with dystonia polycythemia and cirrhosis [MeSH Supplementary Concept]

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