Hypermanganesemia with dystonia 2

Preferred Label : Hypermanganesemia with dystonia 2;

Symbol : HMNDYT2;

CISMeF acronym : HMNDYT2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 39 (zinc transporter), member 14 gene (SLC39A14, 608736.0001).;

Laboratory abnormalities : Increased blood manganese;

Prefixed ID : #617013;

Details

Origin ID

617013;

UMLS CUI

C4310765;

Currated CISMeF NLP mapping
- Dystonia-parkinsonism-hypermanganesemia syndrome [ORDO Disease]
- Hypermanganesemia with dystonia 2 (disorder) [SNOMED CT concept]
- hypermanganesemia with dystonia 2 [DO Concept]
DO Cross reference
- hypermanganesemia with dystonia 2 [DO Concept]
Genes related to phenotype
- Solute carrier family 39 (zinc transporter), member 14 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Achilles tendon contracture [HPO term]
- Ankle clonus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Brisk reflexes [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Clumsiness [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gait disturbance [HPO term]
- Generalized dystonia [HPO term]
- Global developmental delay [HPO term]
- Hyperhidrosis [HPO term]
- Hyperintensity of cerebral white matter on MRI [HPO term]
- Hypermanganesemia [HPO term]
- Hyperreflexia [HPO term]
- Hypokinesia [HPO term]
- Hypomimic face [HPO term]
- Hypotonia [HPO term]
- Impaired mastication [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Limb dystonia [HPO term]
- Limb joint contracture [HPO term]
- Lower limb hypertonia [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Opisthotonus [HPO term]
- Oromandibular dystonia [HPO term]
- Parkinsonism [HPO term]
- Progressive [HPO term]
- Progressive neurologic deterioration [HPO term]
- Scissor gait [HPO term]
- Scoliosis [HPO term]
- Secondary microcephaly [HPO term]
- Spasticity [HPO term]
- Tip-toe gait [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Dystonia-parkinsonism-hypermanganesemia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia-parkinsonism-hypermanganesemia syndrome [ORDO Disease]
- Hypermanganesemia with dystonia 2 (disorder) [SNOMED CT concept]
- hypermanganesemia with dystonia 2 [DO Concept]

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