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 ⁵⁷ ⁷⁵ ²⁹ ⁶

Lipt1d ⁵⁷ ⁷⁵

Lipoyl Transferase 1 Deficiency ⁵⁹

Lipoyltransferase 1 ¹³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

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:

³²

lipoyltransferase 1 deficiency:
Mortality/Aging 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: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁹

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 616299

Orphanet ⁵⁹ ORPHA401862

ICD10 via Orphanet ³⁴ E88.8

MedGen ⁴² C4225379 CN230008

MeSH ⁴⁴ D008661

Sources

Summaries for Lipoyltransferase 1 Deficiency

UniProtKB/Swiss-Prot : ⁷⁵ 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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Lipoyltransferase 1 Deficiency:

³² (show all 15)

#	Description	HPO Source Accession
1	global developmental delay ³²	HP:0001263
2	decreased liver function ³²	HP:0001410
3	pulmonary arterial hypertension ³²	HP:0002092
4	dystonia ³²	HP:0001332
5	increased serum lactate ³²	HP:0002151
6	lactic acidosis ³²	HP:0003128
7	abnormality of extrapyramidal motor function ³²	HP:0002071
8	cerebellar atrophy ³²	HP:0001272
9	spastic tetraparesis ³²	HP:0001285
10	abnormality of the cerebral white matter ³²	HP:0002500
11	muscular hypotonia of the trunk ³²	HP:0008936
12	increased total bilirubin ³²	HP:0003573
13	bradycardia ³²	HP:0001662
14	delayed myelination ³²	HP:0012448
15	elevated hepatic transaminase ³²	HP:0002910

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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 ²⁹	LIPT1

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Anatomical Context for Lipoyltransferase 1 Deficiency

MalaCards organs/tissues related to Lipoyltransferase 1 Deficiency:

⁴¹

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

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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 ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ 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)

Sources

Variations for Lipoyltransferase 1 Deficiency

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

⁷⁵

#	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		GRCh37	Chromosome 2, 99778551: 99778551
10	LIPT1	NM_015929.3(LIPT1): c.131A> G (p.Asn44Ser)	single nucleotide variant	Uncertain significance		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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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Lipoyltransferase 1 Deficiency:

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