LIPT1D
MCID: LPY002
MIFTS: 23

Lipoyltransferase 1 Deficiency (LIPT1D)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

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:

Orphanet: 60  
Inborn errors of metabolism


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

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

Symptoms & Phenotypes for Lipoyltransferase 1 Deficiency

Human phenotypes related to Lipoyltransferase 1 Deficiency:

33 (show all 15)
# Description HPO Frequency 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

Drugs & Therapeutics for Lipoyltransferase 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Lipoyltransferase 1 Deficiency

Genetic Tests for Lipoyltransferase 1 Deficiency

Genetic tests related to Lipoyltransferase 1 Deficiency:

# Genetic test Affiliating Genes
1 Lipoyltransferase 1 Deficiency 30 LIPT1

Anatomical Context for Lipoyltransferase 1 Deficiency

MalaCards organs/tissues related to Lipoyltransferase 1 Deficiency:

42
Liver

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 )
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 )
2014
3
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. ( 24341803 )
2013

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

Expression for Lipoyltransferase 1 Deficiency

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

Pathways for Lipoyltransferase 1 Deficiency

GO Terms for Lipoyltransferase 1 Deficiency

Sources for Lipoyltransferase 1 Deficiency

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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