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THMD4
MCID: THM014
MIFTS: 27
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Thiamine Metabolism Dysfunction Syndrome 4 (THMD4)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Thiamine Metabolism Dysfunction Syndrome 4:
Characteristics:Orphanet epidemiological data:58
progressive polyneuropathy with bilateral striatal necrosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset of acute encephalopathic attacks in childhood (3 to 7 years) onset usually associated with febrile illness full recovery after attacks onset of chronic progressive polyneuropathy in late childhood one family has been reported (as of january 2011) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism |
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OMIM® :
57
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). (613710) (Updated 05-Apr-2021)
MalaCards based summary : Thiamine Metabolism Dysfunction Syndrome 4, also known as striatal necrosis, bilateral, and progressive polyneuropathy, is related to microcephaly, amish type and microcephaly, and has symptoms including lethargy and weakness. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 4 is SLC25A19 (Solute Carrier Family 25 Member 19). Affiliated tissues include skeletal muscle, and related phenotypes are muscle weakness and skeletal muscle atrophy UniProtKB/Swiss-Prot : 72 Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type: A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. |
Diseases in the Thiamine Metabolism Dysfunction Syndrome 2 family:
Diseases related to Thiamine Metabolism Dysfunction Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Thiamine Metabolism Dysfunction Syndrome 4:
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Human phenotypes related to Thiamine Metabolism Dysfunction Syndrome 4:31 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:613710 (Updated 05-Apr-2021)UMLS symptoms related to Thiamine Metabolism Dysfunction Syndrome 4:lethargy; weakness |
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MalaCards organs/tissues related to Thiamine Metabolism Dysfunction Syndrome 4:40
Skeletal Muscle
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Articles related to Thiamine Metabolism Dysfunction Syndrome 4:
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Genes related to Thiamine Metabolism Dysfunction Syndrome 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 4:6
UniProtKB/Swiss-Prot genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 4:72
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Search
GEO
for disease gene expression data for Thiamine Metabolism Dysfunction Syndrome 4.
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