NM_000182.5(HADHA):c.180+3A>G AND Mitochondrial trifunctional protein deficiency

Clinical significance:Pathogenic (Last evaluated: May 1, 1995)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000009270.5

Allele description [Variation Report for NM_000182.5(HADHA):c.180+3A>G]

NM_000182.5(HADHA):c.180+3A>G

Gene:
HADHA:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000182.5(HADHA):c.180+3A>G
HGVS:
  • NC_000002.12:g.26238931T>C
  • NG_007121.1:g.10691A>G
  • NM_000182.5:c.180+3A>GMANE SELECT
  • LRG_747t1:c.180+3A>G
  • NC_000002.11:g.26461799T>C
  • NM_000182.4:c.180+3A>G
Note:
NCBI staff reviewed the sequence information reported in PubMed 7738175 Fig. 5 to determine the location of this allele on the current reference sequence.
Nucleotide change:
IVS3DS, A-G, +3
Links:
OMIM: 600890.0004; dbSNP: rs781222705
NCBI 1000 Genomes Browser:
rs781222705
Molecular consequence:
  • NM_000182.5:c.180+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Mitochondrial trifunctional protein deficiency (MTPD)
Synonyms:
Trifunctional protein deficiency with myopathy and neuropathy; Trifunctional protein deficiency type 1; TFP deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012172; MedGen: C1969443; Orphanet: 746; OMIM: 609015

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029488OMIMno assertion criteria providedPathogenic
(May 1, 1995)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, Strauss AW.

J Clin Invest. 1995 May;95(5):2076-82.

PubMed [citation]
PMID:
7738175
PMCID:
PMC295799

Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.

Liewluck T, Mundi MS, Mauermann ML.

Muscle Nerve. 2013 Dec;48(6):989-91. doi: 10.1002/mus.23959. Epub 2013 Oct 25.

PubMed [citation]
PMID:
23868323

Details of each submission

From OMIM, SCV000029488.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

For discussion of the maternally inherited A-to-G mutation at position +3 of the HADHA gene that was found in compound heterozygous state in an infant with neonatal presentation of hypoglycemia and lactic aciduria and sudden unexplained death (MTPD; 609015) by Brackett et al. (1995), see 600890.0003.

In a man with MTPD manifest as adult-onset exercise-induced rhabdomyolysis and mild sensorimotor axonal peripheral neuropathy, Liewluck et al. (2013) identified compound heterozygous mutations in the HADHA gene: c.180+3A-G in intron 3 and E510Q (600890.0001).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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