Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)

Preferred Label : Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type);

Symbol : THMD4;

CISMeF acronym : THMD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bilateral striatal degeneration and progressive polyneuropathy; Striatal necrosis, bilateral, and progressive polyneuropathy;

Description : Thiamine metabolism dysfunction syndrome-4 is an autosomal recessive metabolic disorder characterized by childhood onset of episodic encephalopathy, often associated with a febrile illness, and causing transient neurologic dysfunction. Most patients recover fully, but some may have mild residual weakness. Affected individuals also develop a slowly progressive axonal polyneuropathy beginning in childhood. Brain imaging during the acute episodes shows lesions consistent with bilateral striatal degeneration or necrosis (summary by Spiegel et al., 2009). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 gene (SLC25A19, 606521.0002);

Laboratory abnormalities : Increased CSF lactate during acute episodes;

Prefixed ID : #613710;

Details

Origin ID

613710;

UMLS CUI

C3150973;

Currated CISMeF NLP mapping
- Progressive polyneuropathy with bilateral striatal necrosis [ORDO Disease]
- Progressive polyneuropathy with bilateral striatal necrosis (disorder) [SNOMED CT concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Contractures of the joints of the lower limbs [HPO term]
- Difficulty walking [HPO term]
- Hyporeflexia [HPO term]
- Increased CSF lactate [HPO term]
- Lethargy [HPO term]
- Muscle weakness [HPO term]
- Paralysis [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Polyneuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Progressive polyneuropathy with bilateral striatal necrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive polyneuropathy with bilateral striatal necrosis (disorder) [SNOMED CT concept]

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