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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Cardiomyopathies (D009202)
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Mitochondrial Myopathies (D017240)
Parent Node: Nervous System Diseases (D009422)
Parent Node: Rhabdomyolysis (D012206)
..Starting node ..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
Child Nodes:
Sister Nodes:
..Myoglobinuria (D009212) 3
..Rhabdomyolysis, Cerivastatin-Induced (C563387)
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11258

Name:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

Definition:

Alternative IDs:

OMIM:609015

ParentIDs:

MESH:D008052|MESH:D009202|MESH:D009422|MESH:D012206|MESH:D017240

TreeNumbers:

C05.651.460/C566945 |C05.651.807/C566945 |C10.668.491.500/C566945 |C10/C566945 |C14.280.238/C566945 |C16.320.565.398/C566945 |C18.452.584.562/C566945 |C18.452.648.398/C566945 |C18.452.660.560/C566945

Synonyms:

3-Hydroxyacyl-CoA Dehydrogenase, Long Chain, Deficiency |LCHAD Deficiency |Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency |Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency |Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency |Long-Chain

Slim Mappings:

Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C566945
MeSH: C566945
OMIM: 609015;

Genes: HADHA; HADHB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001560	Abnormality of the amniotic fluid
3	HP:0001635	Congestive heart failure
4	HP:0001644	Dilated cardiomyopathy
5	HP:0002910	Elevated hepatic transaminase
6	HP:0001508	Failure to thrive
7	HP:0001290	Generalized hypotonia
8	HP:0003324	Generalized muscle weakness
9	HP:0001263	Global developmental delay
10	HP:0001789	Hydrops fetalis
11	HP:0001987	Hyperammonemia
12	HP:0001985	Hypoketotic hypoglycemia
13	HP:0001252	Hypotonia
14	HP:0003128	Lactic acidosis
15	HP:0003326	Myalgia
16	HP:0002913	Myoglobinuria
17	HP:0009830	Peripheral neuropathy
18	HP:0000580	Pigmentary retinopathy	HP:0040284
19	HP:0002686	Prenatal maternal abnormality
20	HP:0002878	Respiratory failure
21	HP:0002093	Respiratory insufficiency
22	HP:0003201	Rhabdomyolysis
23	HP:0001518	Small for gestational age

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000182.4(HADHA):c.2146+1G>A	-1	-	Pathogenic	794727219	RCV000175393; RCV000175394;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016	2	26414351	26414351	NM_000182.4:c.2146+1G>A		NC_000002.11:g.26414351C>T	-	CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000182.4(HADHA):c.1918C>T (p.Gln640Ter)	-1	-	Pathogenic	794727198	RCV000175265; RCV000175266;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016	2	26415261	26415261	NM_000182.4:c.1918C>T	NP_000173.2:p.Gln640Ter	NC_000002.11:g.26415261G>A	-	CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000182.4(HADHA):c.1678C>T (p.Arg560Ter)	-1	-	Pathogenic	137852771	RCV000009271;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26417450	26417450	NM_000182.4:c.1678C>T	NP_000173.2:p.Arg560Ter	NC_000002.11:g.26417450G>A	OMIM Allelic Variant:600890.0005	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000182.4(HADHA):c.1528G>C (p.Glu510Gln)	-1	-	Pathogenic	137852769	RCV000009266; RCV000009267; RCV000174836; RCV000185933;	Y	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:C1833202; MedGen:CN074230,OMIM:609016; MedGen:CN221809	2	26418053	26418053	NM_000182.4:c.1528G>C	NP_000173.2:p.Glu510Gln	NC_000002.11:g.26418053C>G	OMIM Allelic Variant:600890.0001	C1833202 Lchad deficiency with maternal acute fatty liver of pregnancy; CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided
NM_000182.4(HADHA):c.1132C>T (p.Gln378Ter)	3030	HADHA	Pathogenic	137852770	RCV000009268;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26427019	26427019	NM_000182.4:c.1132C>T	NP_000173.2:p.Gln378Ter	NC_000002.11:g.26427019G>A	OMIM Allelic Variant:600890.0002	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000182.4(HADHA):c.1025T>C (p.Leu342Pro)	3030	HADHA	Pathogenic	137852772	RCV000009273;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26432709	26432709	NM_000182.4:c.1025T>C	NP_000173.2:p.Leu342Pro	NC_000002.11:g.26432709A>G	OMIM Allelic Variant:600890.0007	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000182.4(HADHA):c.919-2A>G	3030	HADHA	Pathogenic	200017313	RCV000173655; RCV000173656; RCV000185930;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016; MedGen:CN221809	2	26435497	26435497	NM_000182.4:c.919-2A>G		NC_000002.11:g.26435497T>C	-	CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided
NM_000182.4(HADHA):c.914T>A (p.Ile305Asn)	3030	HADHA	Pathogenic	137852774	RCV000009275;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26437316	26437316	NM_000182.4:c.914T>A	NP_000173.2:p.Ile305Asn	NC_000002.11:g.26437316A>T	OMIM Allelic Variant:600890.0009	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000182.4(HADHA):c.871C>T (p.Arg291Ter)	3030	HADHA	Pathogenic	137852775	RCV000009276;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26437359	26437359	NM_000182.4:c.871C>T	NP_000173.2:p.Arg291Ter	NC_000002.11:g.26437359G>A	OMIM Allelic Variant:600890.0010	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000182.4(HADHA):c.845T>A (p.Val282Asp)	3030	HADHA	Pathogenic	137852773	RCV000009274;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26437385	26437385	NM_000182.4:c.845T>A	NP_000173.2:p.Val282Asp	NC_000002.11:g.26437385A>T	OMIM Allelic Variant:600890.0008	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000182.4(HADHA):c.274_278delTCATC (p.Ser92Lysfs)	3030	HADHA	Likely pathogenic;Pathogenic	781205883	RCV000178060; RCV000169517; RCV000185936;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016; MedGen:CN221809	2	26459759	26459763	NM_000182.4:c.274_278delTCATC	NP_000173.2:p.Ser92Lysfs	NC_000002.11:g.26459759_26459763delGATGA	-	CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided
NM_000182.4(HADHA):c.180+3A>G	3030	HADHA	Pathogenic	781222705	RCV000009270; RCV000177004; RCV000185934;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016; MedGen:CN221809	2	26461799	26461799	NM_000182.4:c.180+3A>G		NC_000002.11:g.26461799T>C	OMIM Allelic Variant:600890.0004	CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided
NM_000182.4(HADHA):c.180+1G>A	3030	HADHA	Pathogenic	786205088	RCV000009269;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26461801	26461801	NM_000182.4:c.180+1G>A		NC_000002.11:g.26461801C>T	OMIM Allelic Variant:600890.0003	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000182.4(HADHA):c.157C>T (p.Arg53Ter)	3030	HADHA	Pathogenic	147103714	RCV000177002; RCV000177003; RCV000078334;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016; MedGen:CN221809	2	26461825	26461825	NM_000182.4:c.157C>T	NP_000173.2:p.Arg53Ter	NC_000002.11:g.26461825G>A	HGMD:CM107604	CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided
NM_000183.2(HADHB):c.182G>A (p.Arg61His)	3032	HADHB	Pathogenic	121913132	RCV000015970;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26486320	26486320	NM_000183.2:c.182G>A	NP_000174.1:p.Arg61His	NC_000002.11:g.26486320G>A	OMIM Allelic Variant:143450.0002	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000183.2(HADHB):c.740G>A (p.Arg247His)	3032	HADHB	Pathogenic	121913133	RCV000015971;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26502112	26502112	NM_000183.2:c.740G>A	NP_000174.1:p.Arg247His	NC_000002.11:g.26502112G>A	OMIM Allelic Variant:143450.0003	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000183.2(HADHB):c.788A>G (p.Asp263Gly)	3032	HADHB	Pathogenic	121913131	RCV000015969;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26502160	26502160	NM_000183.2:c.788A>G	NP_000174.1:p.Asp263Gly	NC_000002.11:g.26502160A>G	OMIM Allelic Variant:143450.0001	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000183.2(HADHB):c.1175C>T (p.Ala392Val)	3032	HADHB	Pathogenic	764623179	RCV000170518;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26507776	26507776	NM_000183.2:c.1175C>T	NP_000174.1:p.Ala392Val	NC_000002.11:g.26507776C>T	OMIM Allelic Variant:143450.0007	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000183.2(HADHB):c.1331G>A (p.Arg444Lys)	3032	HADHB	Pathogenic	121913134	RCV000015972;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26508381	26508381	NM_000183.2:c.1331G>A	NP_000174.1:p.Arg444Lys	NC_000002.11:g.26508381G>A	OMIM Allelic Variant:143450.0004	C0342786 609015 Mitochondrial trifunctional protein deficiency
NM_000183.2(HADHB):c.1364T>G (p.Val455Gly)	3032	HADHB	Pathogenic	267606859	RCV000015974;	N	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	2	26508414	26508414	NM_000183.2:c.1364T>G	NP_000174.1:p.Val455Gly	NC_000002.11:g.26508414T>G	OMIM Allelic Variant:143450.0006	C0342786 609015 Mitochondrial trifunctional protein deficiency