Thiamine Metabolism Dysfunction Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Thiamine Metabolism Dysfunction Syndrome 4

MalaCards integrated aliases for Thiamine Metabolism Dysfunction Syndrome 4:

Name: Thiamine Metabolism Dysfunction Syndrome 4 ⁵⁸ ¹³ ⁷⁴

Striatal Necrosis, Bilateral, and Progressive Polyneuropathy ⁵⁸ ³⁰ ⁶

Bilateral Striatal Degeneration and Progressive Polyneuropathy ⁵⁸ ⁷⁶

Thmd4 ⁵⁸ ⁷⁶

Thiamine Metabolism Dysfunction Syndrome 4, Bilateral Striatal Degeneration and Progressive Polyneuropathy Type ⁷⁶

Progressive Polyneuropathy with Bilateral Striatal Necrosis ⁶⁰

Striatal Necrosis, Bilateral and Progressive Polyneuropathy ⁷⁶

Thiamine Metabolism Dysfunction Syndrome, Type 4 ⁴¹

Characteristics:

Orphanet epidemiological data:

⁶⁰

progressive polyneuropathy with bilateral striatal necrosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁸

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:

³³

thiamine metabolism dysfunction syndrome 4:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁸ 613710

MeSH ⁴⁵ D001480

Orphanet ⁶⁰ ORPHA217396

MedGen ⁴³ C3150973

SNOMED-CT via HPO ⁷⁰ 128208007 214264003 228158008 more

UMLS ⁷⁴ C3150973

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Summaries for Thiamine Metabolism Dysfunction Syndrome 4

OMIM : ⁵⁸ 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)

MalaCards based summary : Thiamine Metabolism Dysfunction Syndrome 4, is also known as striatal necrosis, bilateral, and progressive polyneuropathy, 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 brain and skeletal muscle, and related phenotypes are muscle weakness and skeletal muscle atrophy

UniProtKB/Swiss-Prot : ⁷⁶ 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.

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Related Diseases for Thiamine Metabolism Dysfunction Syndrome 4

Diseases in the Thiamine Metabolism Dysfunction Syndrome 2 family:

Thiamine Metabolism Dysfunction Syndrome 4

Thiamine Metabolism Dysfunction Syndrome 5

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Symptoms & Phenotypes for Thiamine Metabolism Dysfunction Syndrome 4

Human phenotypes related to Thiamine Metabolism Dysfunction Syndrome 4:

³³ (show all 11)

#	Description	HPO Source Accession
1	muscle weakness ³³	HP:0001324
2	skeletal muscle atrophy ³³	HP:0003202
3	talipes equinovarus ³³	HP:0001762
4	paralysis ³³	HP:0003470
5	difficulty walking ³³	HP:0002355
6	hyporeflexia ³³	HP:0001265
7	lethargy ³³	HP:0001254
8	peripheral axonal neuropathy ³³	HP:0003477
9	polyneuropathy ³³	HP:0001271
10	increased csf lactate ³³	HP:0002490
11	contractures of the joints of the lower limbs ³³	HP:0005750

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
paralysis
lethargy
weakness
encephalopathic attacks, episodic, associated with infection
difficulty walking and running
more

Skeletal Feet:
foot deformities
pes equinus
forefoot adduction
forefoot supination

Muscle Soft Tissue:
distal muscle weakness due to neuropathy
distal muscle atrophy due to neuropathy

Neurologic Peripheral Nervous System:
hyporeflexia
axonal neuropathy
distal muscle weakness due to neuropathy (lower limbs more affected than upper limbs)
distal muscle atrophy due to neuropathy (lower limbs more affected than upper limbs)

Skeletal:
distal joint contractures, lower limbs

Laboratory Abnormalities:
increased csf lactate during acute episodes

Clinical features from OMIM:

613710

UMLS symptoms related to Thiamine Metabolism Dysfunction Syndrome 4:

lethargy, weakness

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Drugs & Therapeutics for Thiamine Metabolism Dysfunction Syndrome 4

Search Clinical Trials , NIH Clinical Center for Thiamine Metabolism Dysfunction Syndrome 4

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Genetic Tests for Thiamine Metabolism Dysfunction Syndrome 4

Genetic tests related to Thiamine Metabolism Dysfunction Syndrome 4:

#	Genetic test	Affiliating Genes
1	Striatal Necrosis, Bilateral, and Progressive Polyneuropathy ³⁰	SLC25A19

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Anatomical Context for Thiamine Metabolism Dysfunction Syndrome 4

MalaCards organs/tissues related to Thiamine Metabolism Dysfunction Syndrome 4:

⁴²

Brain, Skeletal Muscle

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Publications for Thiamine Metabolism Dysfunction Syndrome 4

Articles related to Thiamine Metabolism Dysfunction Syndrome 4:

#	Title	Authors	Year
1	SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. ( 19798730 )	Spiegel R...Elpeleg O	2009

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Genes for Thiamine Metabolism Dysfunction Syndrome 4

Genes related to Thiamine Metabolism Dysfunction Syndrome 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC25A19	Solute Carrier Family 25 Member 19	Protein Coding	1677.82	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	19798730

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Variations for Thiamine Metabolism Dysfunction Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 4:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	SLC25A19	p.Gly125Ser	VAR_065125	rs387906944

ClinVar genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 4:

⁶ (show all 16)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SLC25A19	NM_021734.4(SLC25A19): c.373G> A (p.Gly125Ser)	single nucleotide variant	Pathogenic	rs387906944	GRCh37	Chromosome 17, 73279590: 73279590
2	SLC25A19	NM_021734.4(SLC25A19): c.373G> A (p.Gly125Ser)	single nucleotide variant	Pathogenic	rs387906944	GRCh38	Chromosome 17, 75283509: 75283509
3	SLC25A19	NM_021734.4(SLC25A19): c.590G> T (p.Ser197Ile)	single nucleotide variant	Uncertain significance	rs769399113	GRCh37	Chromosome 17, 73274286: 73274286
4	SLC25A19	NM_021734.4(SLC25A19): c.590G> T (p.Ser197Ile)	single nucleotide variant	Uncertain significance	rs769399113	GRCh38	Chromosome 17, 75278205: 75278205
5	SLC25A19	NM_021734.4(SLC25A19): c.73T> G (p.Ser25Ala)	single nucleotide variant	Uncertain significance	rs777474053	GRCh37	Chromosome 17, 73282773: 73282773
6	SLC25A19	NM_021734.4(SLC25A19): c.73T> G (p.Ser25Ala)	single nucleotide variant	Uncertain significance	rs777474053	GRCh38	Chromosome 17, 75286692: 75286692
7	SLC25A19	NM_021734.4(SLC25A19): c.550G> C (p.Ala184Pro)	single nucleotide variant	Pathogenic	rs769187207	GRCh38	Chromosome 17, 75278245: 75278245
8	SLC25A19	NM_021734.4(SLC25A19): c.550G> C (p.Ala184Pro)	single nucleotide variant	Pathogenic	rs769187207	GRCh37	Chromosome 17, 73274326: 73274326
9	SLC25A19	NM_021734.4(SLC25A19): c.481G> A (p.Ala161Thr)	single nucleotide variant	Pathogenic	rs1208990609	GRCh37	Chromosome 17, 73274395: 73274395
10	SLC25A19	NM_021734.4(SLC25A19): c.481G> A (p.Ala161Thr)	single nucleotide variant	Pathogenic	rs1208990609	GRCh38	Chromosome 17, 75278314: 75278314
11	SLC25A19	NM_021734.4(SLC25A19): c.454C> A (p.Pro152Thr)	single nucleotide variant	Pathogenic	rs1555603796	GRCh37	Chromosome 17, 73279509: 73279509
12	SLC25A19	NM_021734.4(SLC25A19): c.454C> A (p.Pro152Thr)	single nucleotide variant	Pathogenic	rs1555603796	GRCh38	Chromosome 17, 75283428: 75283428
13	SLC25A19	NM_021734.4(SLC25A19): c.194C> T (p.Ala65Val)	single nucleotide variant	Pathogenic	rs1555604541	GRCh38	Chromosome 17, 75286398: 75286398
14	SLC25A19	NM_021734.4(SLC25A19): c.194C> T (p.Ala65Val)	single nucleotide variant	Pathogenic	rs1555604541	GRCh37	Chromosome 17, 73282479: 73282479
15	SLC25A19	NM_021734.4(SLC25A19): c.240A> C (p.Lys80Asn)	single nucleotide variant	Likely pathogenic	rs1175745274	GRCh37	Chromosome 17, 73282433: 73282433
16	SLC25A19	NM_021734.4(SLC25A19): c.240A> C (p.Lys80Asn)	single nucleotide variant	Likely pathogenic	rs1175745274	GRCh38	Chromosome 17, 75286352: 75286352

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Expression for Thiamine Metabolism Dysfunction Syndrome 4

Search GEO for disease gene expression data for Thiamine Metabolism Dysfunction Syndrome 4.

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Pathways for Thiamine Metabolism Dysfunction Syndrome 4

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GO Terms for Thiamine Metabolism Dysfunction Syndrome 4

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Thiamine Metabolism Dysfunction Syndrome 4 (THMD4)

Aliases & Classifications for Thiamine Metabolism Dysfunction Syndrome 4

MalaCards integrated aliases for Thiamine Metabolism Dysfunction Syndrome 4:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Thiamine Metabolism Dysfunction Syndrome 4

Related Diseases for Thiamine Metabolism Dysfunction Syndrome 4

Diseases in the Thiamine Metabolism Dysfunction Syndrome 2 family:

Symptoms & Phenotypes for Thiamine Metabolism Dysfunction Syndrome 4

Human phenotypes related to Thiamine Metabolism Dysfunction Syndrome 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Thiamine Metabolism Dysfunction Syndrome 4:

Drugs & Therapeutics for Thiamine Metabolism Dysfunction Syndrome 4

Genetic Tests for Thiamine Metabolism Dysfunction Syndrome 4

Genetic tests related to Thiamine Metabolism Dysfunction Syndrome 4:

Anatomical Context for Thiamine Metabolism Dysfunction Syndrome 4

MalaCards organs/tissues related to Thiamine Metabolism Dysfunction Syndrome 4:

Publications for Thiamine Metabolism Dysfunction Syndrome 4

Articles related to Thiamine Metabolism Dysfunction Syndrome 4:

Genes for Thiamine Metabolism Dysfunction Syndrome 4

Genes related to Thiamine Metabolism Dysfunction Syndrome 4 (1 elite genes):

Variations for Thiamine Metabolism Dysfunction Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 4:

ClinVar genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 4:

Expression for Thiamine Metabolism Dysfunction Syndrome 4

Pathways for Thiamine Metabolism Dysfunction Syndrome 4

GO Terms for Thiamine Metabolism Dysfunction Syndrome 4

Sources for Thiamine Metabolism Dysfunction Syndrome 4