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

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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, is also known as lipt1d. An important gene associated with Lipoyltransferase 1 Deficiency is LIPT1 (Lipoyltransferase 1). Affiliated tissues include liver, and related phenotypes are global developmental delay and cerebellar atrophy

Description from OMIM: 616299

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Related Diseases for Lipoyltransferase 1 Deficiency

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

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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

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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	1678.19	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	8.41	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:

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

(show all 14)

#	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_145199.2(LIPT1): c.806G> A (p.Trp269Ter)	single nucleotide variant	no interpretation for the single variant	rs863224892	GRCh38	Chromosome 2, 99162763: 99162763
8	LIPT1	NM_145199.2(LIPT1): c.806G> A (p.Trp269Ter)	single nucleotide variant	no interpretation for the single variant	rs863224892	GRCh37	Chromosome 2, 99779226: 99779226
9	LIPT1	NM_145199.2(LIPT1): c.980T> G (p.Leu327Ter)	single nucleotide variant	no interpretation for the single variant	rs863224893	GRCh37	Chromosome 2, 99779400: 99779400
10	LIPT1	NM_145199.2(LIPT1): c.980T> G (p.Leu327Ter)	single nucleotide variant	no interpretation for the single variant	rs863224893	GRCh38	Chromosome 2, 99162937: 99162937
11	LIPT1	NM_015929.3(LIPT1): c.875C> G (p.Ser292Ter)	single nucleotide variant	Pathogenic	rs137891647	GRCh37	Chromosome 2, 99779295: 99779295
12	LIPT1	NM_015929.3(LIPT1): c.875C> G (p.Ser292Ter)	single nucleotide variant	Pathogenic	rs137891647	GRCh38	Chromosome 2, 99162832: 99162832
13	LIPT1	NM_015929.3(LIPT1): c.131A> G (p.Asn44Ser)	single nucleotide variant	no interpretation for the single variant		GRCh37	Chromosome 2, 99778551: 99778551
14	LIPT1	NM_015929.3(LIPT1): c.131A> G (p.Asn44Ser)	single nucleotide variant	no interpretation for the single variant		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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