MCID: LPY002
MIFTS: 21

Lipoyltransferase 1 Deficiency

Categories: Genetic diseases, Metabolic diseases, Rare diseases

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:

Orphanet: 59  
Inborn errors of metabolism


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

Related Diseases for Lipoyltransferase 1 Deficiency

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 Frequency 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

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 29 LIPT1

Anatomical Context for Lipoyltransferase 1 Deficiency

MalaCards organs/tissues related to Lipoyltransferase 1 Deficiency:

41
Liver

Publications for Lipoyltransferase 1 Deficiency

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

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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