Lipoyltransferase 1 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lipoyltransferase 1 Deficiency

MalaCards integrated aliases for Lipoyltransferase 1 Deficiency:

Name: Lipoyltransferase 1 Deficiency ⁵⁸ ⁷⁶ ³⁰ ⁶

Lipt1d ⁵⁸ ⁷⁶

Lipoyl Transferase 1 Deficiency ⁶⁰

Lipoyltransferase 1 ¹³

Characteristics:

Orphanet epidemiological data:

⁶⁰

lipoyl transferase 1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
symptoms present as acute metabolic and clinical decompensation associated with infection
death in infancy (patient b)
two unrelated patients have been reported (last curated april 2015)

HPO:

³³

lipoyltransferase 1 deficiency:
Clinical modifier death in infancy
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁶⁰

Inborn errors of metabolism

External Ids:

OMIM ⁵⁸ 616299

MeSH ⁴⁵ D008661

ICD10 via Orphanet ³⁵ E88.8

Orphanet ⁶⁰ ORPHA401862

MedGen ⁴³ C4225379 CN230008

Sources

Summaries for Lipoyltransferase 1 Deficiency

UniProtKB/Swiss-Prot : ⁷⁶ Lipoyltransferase 1 deficiency: A disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension.

MalaCards based summary : Lipoyltransferase 1 Deficiency, also known as lipt1d, is related to lactic acidosis. An important gene associated with Lipoyltransferase 1 Deficiency is LIPT1 (Lipoyltransferase 1). Affiliated tissues include liver, and related phenotypes are global developmental delay and decreased liver function

Description from OMIM: 616299

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Related Diseases for Lipoyltransferase 1 Deficiency

Diseases related to Lipoyltransferase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	lactic acidosis	10.1

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Symptoms & Phenotypes for Lipoyltransferase 1 Deficiency

Human phenotypes related to Lipoyltransferase 1 Deficiency:

³³ (show all 15)

#	Description	HPO Source Accession
1	global developmental delay ³³	HP:0001263
2	decreased liver function ³³	HP:0001410
3	pulmonary arterial hypertension ³³	HP:0002092
4	elevated hepatic transaminase ³³	HP:0002910
5	dystonia ³³	HP:0001332
6	increased serum lactate ³³	HP:0002151
7	lactic acidosis ³³	HP:0003128
8	abnormality of extrapyramidal motor function ³³	HP:0002071
9	cerebellar atrophy ³³	HP:0001272
10	spastic tetraparesis ³³	HP:0001285
11	increased total bilirubin ³³	HP:0003573
12	muscular hypotonia of the trunk ³³	HP:0008936
13	abnormality of the cerebral white matter ³³	HP:0002500
14	bradycardia ³³	HP:0001662
15	delayed myelination ³³	HP:0012448

Symptoms via clinical synopsis from OMIM:

⁵⁸

Laboratory Abnormalities:
increased serum lactate
abnormal liver enzymes
increased bilirubin (patient b)
increased serum alpha-ketoglutarate
increased serum alpha-alanine (patient b)
more

Abdomen Liver:
liver dysfunction

Cardiovascular Heart:
bradycardia (patient b)

Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
dystonic movements
delayed psychomotor development (patient a)
j hypertonia
truncal hypotonia (patient a)
spastic tetraparesis (patient a)
more

Cardiovascular Vascular:
pulmonary hypertension (patient b)

Clinical features from OMIM:

616299

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Drugs & Therapeutics for Lipoyltransferase 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Lipoyltransferase 1 Deficiency

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Genetic Tests for Lipoyltransferase 1 Deficiency

Genetic tests related to Lipoyltransferase 1 Deficiency:

#	Genetic test	Affiliating Genes
1	Lipoyltransferase 1 Deficiency ³⁰	LIPT1

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Anatomical Context for Lipoyltransferase 1 Deficiency

MalaCards organs/tissues related to Lipoyltransferase 1 Deficiency:

⁴²

Liver

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Publications for Lipoyltransferase 1 Deficiency

Articles related to Lipoyltransferase 1 Deficiency:

#	Title	Authors	Year
1	Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings. ( 27247813 )	Tach? V...Poulain FR	2016
2	Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. ( 24256811 )	Tort F...Ribes A	2014
3	Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. ( 24341803 )	Soreze Y...de Lonlay P	2013

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Genes for Lipoyltransferase 1 Deficiency

Genes related to Lipoyltransferase 1 Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LIPT1	Lipoyltransferase 1	Protein Coding	1678.1	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	24341803 24256811
2	MITD1	Microtubule Interacting And Trafficking Domain Containing 1	Protein Coding	8.4	GeneCards inferred via : Variants (show sections)

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Variations for Lipoyltransferase 1 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Lipoyltransferase 1 Deficiency:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	LIPT1	p.Ser71Phe	VAR_073669	rs767568897
2	LIPT1	p.Arg98Gly	VAR_073670	rs137973334
3	LIPT1	p.Thr179Ala	VAR_073671	rs786205156

ClinVar genetic disease variations for Lipoyltransferase 1 Deficiency:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LIPT1	NM_015929.3(LIPT1): c.535A> G (p.Thr179Ala)	single nucleotide variant	Pathogenic	rs786205156	GRCh38	Chromosome 2, 99162492: 99162492
2	LIPT1	NM_015929.3(LIPT1): c.535A> G (p.Thr179Ala)	single nucleotide variant	Pathogenic	rs786205156	GRCh37	Chromosome 2, 99778955: 99778955
3	LIPT1	NM_015929.3(LIPT1): c.212C> T (p.Ser71Phe)	single nucleotide variant	Pathogenic	rs767568897	GRCh37	Chromosome 2, 99778632: 99778632
4	LIPT1	NM_015929.3(LIPT1): c.212C> T (p.Ser71Phe)	single nucleotide variant	Pathogenic	rs767568897	GRCh38	Chromosome 2, 99162169: 99162169
5	LIPT1	NM_015929.3(LIPT1): c.292C> G (p.Arg98Gly)	single nucleotide variant	Pathogenic	rs137973334	GRCh38	Chromosome 2, 99162249: 99162249
6	LIPT1	NM_015929.3(LIPT1): c.292C> G (p.Arg98Gly)	single nucleotide variant	Pathogenic	rs137973334	GRCh37	Chromosome 2, 99778712: 99778712
7	LIPT1	NM_015929.3(LIPT1): c.875C> G (p.Ser292Ter)	single nucleotide variant	Pathogenic	rs137891647	GRCh37	Chromosome 2, 99779295: 99779295
8	LIPT1	NM_015929.3(LIPT1): c.875C> G (p.Ser292Ter)	single nucleotide variant	Pathogenic	rs137891647	GRCh38	Chromosome 2, 99162832: 99162832
9	LIPT1	NM_015929.3(LIPT1): c.131A> G (p.Asn44Ser)	single nucleotide variant	Uncertain significance	rs1468529365	GRCh37	Chromosome 2, 99778551: 99778551
10	LIPT1	NM_015929.3(LIPT1): c.131A> G (p.Asn44Ser)	single nucleotide variant	Uncertain significance	rs1468529365	GRCh38	Chromosome 2, 99162088: 99162088

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Expression for Lipoyltransferase 1 Deficiency

Search GEO for disease gene expression data for Lipoyltransferase 1 Deficiency.

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Pathways for Lipoyltransferase 1 Deficiency

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GO Terms for Lipoyltransferase 1 Deficiency

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Sources for Lipoyltransferase 1 Deficiency

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Lipoyltransferase 1 Deficiency (LIPT1D)

Aliases & Classifications for Lipoyltransferase 1 Deficiency

MalaCards integrated aliases for Lipoyltransferase 1 Deficiency:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lipoyltransferase 1 Deficiency

Related Diseases for Lipoyltransferase 1 Deficiency

Diseases related to Lipoyltransferase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Lipoyltransferase 1 Deficiency

Human phenotypes related to Lipoyltransferase 1 Deficiency:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lipoyltransferase 1 Deficiency

Genetic Tests for Lipoyltransferase 1 Deficiency

Genetic tests related to Lipoyltransferase 1 Deficiency:

Anatomical Context for Lipoyltransferase 1 Deficiency

MalaCards organs/tissues related to Lipoyltransferase 1 Deficiency:

Publications for Lipoyltransferase 1 Deficiency

Articles related to Lipoyltransferase 1 Deficiency:

Genes for Lipoyltransferase 1 Deficiency

Genes related to Lipoyltransferase 1 Deficiency (1 elite genes):

Variations for Lipoyltransferase 1 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Lipoyltransferase 1 Deficiency:

ClinVar genetic disease variations for Lipoyltransferase 1 Deficiency:

Expression for Lipoyltransferase 1 Deficiency

Pathways for Lipoyltransferase 1 Deficiency

GO Terms for Lipoyltransferase 1 Deficiency

Sources for Lipoyltransferase 1 Deficiency