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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
..Starting node ..Short chain Acyl CoA dehydrogenase deficiency (C537596)
Child Nodes:
Sister Nodes:
..2,4-Dienoyl-CoA Reductase Deficiency (C565624)
..Acetyl-Coa Carboxylase Deficiency (C562678)
..Alpha-Methylacyl-CoA Racemase Deficiency (C565768)
..Apolipoprotein E, Deficiency or Defect of (C566260)
..Barth Syndrome (D056889) 2
..Carnitine palmitoyl transferase 1A deficiency (C535588)
..Carnitine Palmitoyltransferase II Deficiency, Infantile (C563462)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine-Acylcarnitine Translocase Deficiency (C562812)
..Cholesteryl Ester Transfer Protein Deficiency (C564591)
..Cytosolic acetoacetyl-CoA thiolase deficiency (C536005)
..Desmosterolosis (C566555)
..Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency (C536080)
..Hyperlipidemia, Familial Combined (D006950) 2
..Hyperlipoproteinemia Type I (D008072) 1
..Hyperlipoproteinemia Type II (D006938) 4
..Hyperlipoproteinemia Type III (D006952)
..Hyperlipoproteinemia Type IV (D006953)
..Hyperlipoproteinemia Type V (D006954)
..Hypolipoproteinemias (D007009) 14
..Lipase deficiency combined (C535904)
..Lipidoses (D008064) 71
..Lipodystrophy, Congenital Generalized (D052497) 3
..Long-chain acyl-CoA dehydrogenase deficiency (C535690)
..Lp(A) Deficiency, Congenital (C563618)
..Medium chain acyl CoA dehydrogenase deficiency (C536038)
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Peroxisomal ACYL-COA oxidase deficiency (C536662)
..Short chain Acyl CoA dehydrogenase deficiency (C537596)
..Sitosterolemia (C537345)
..Smith-Lemli-Opitz Syndrome (D019082) 1
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Triglyceride Storage Disease, Type I (C566031)
..Triglyceride Storage Disease, Type II (C566030)
..VLCAD deficiency (C536353)
..Xanthomatosis, Cerebrotendinous (D019294)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10186

Name:

Short chain Acyl CoA dehydrogenase deficiency

Definition:

Alternative IDs:

OMIM:201470

ParentIDs:

MESH:D008052

TreeNumbers:

C16.320.565.398/C537596 |C18.452.584.562/C537596 |C18.452.648.398/C537596

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C537596
MeSH: C537596
OMIM: 201470;

Genes: ACADS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003623	Neonatal onset
3	HP:0002500	Abnormal cerebral white matter morphology
4	HP:0001638	Cardiomyopathy
5	HP:0000750	Delayed speech and language development
6	HP:0004911	Episodic metabolic acidosis
7	HP:0003219	Ethylmalonic aciduria
8	HP:0010628	Facial palsy
9	HP:0001508	Failure to thrive
10	HP:0008872	Feeding difficulties in infancy
11	HP:0001371	Flexion contracture
12	HP:0001290	Generalized hypotonia
13	HP:0001263	Global developmental delay
14	HP:0001252	Hypotonia
15	HP:0001254	Lethargy
16	HP:0003198	Myopathy
17	HP:0000590	Progressive external ophthalmoplegia	HP:0040283
18	HP:0000709	Psychosis
19	HP:0002650	Scoliosis
20	HP:0001250	Seizure

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_000017.3(ACADS):c.136C>T (p.Arg46Trp)	35	ACADS	Likely pathogenic;Pathogenic	121908003	RCV000004029; RCV000185706;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121164918	121164918	NM_000017.3:c.136C>T	NP_000008.1:p.Arg46Trp	NC_000012.11:g.121164918C>T	OMIM Allelic Variant:606885.0001	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided
NM_000017.3(ACADS):c.164C>T (p.Pro55Leu)	35	ACADS	Pathogenic	147442301	RCV000023585;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007	12	121164946	121164946	NM_000017.3:c.164C>T	NP_000008.1:p.Pro55Leu	NC_000012.11:g.121164946C>T	OMIM Allelic Variant:606885.0014	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase
NM_000017.3(ACADS):c.268G>A (p.Gly90Ser)	35	ACADS	Pathogenic	121908005	RCV000004036;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007	12	121174846	121174846	NM_000017.3:c.268G>A	NP_000008.1:p.Gly90Ser	NC_000012.11:g.121174846G>A	OMIM Allelic Variant:606885.0008	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase
NM_000017.3(ACADS):c.274G>T (p.Gly92Cys)	35	ACADS	Pathogenic	121908004	RCV000004031;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007	12	121174852	121174852	NM_000017.3:c.274G>T	NP_000008.1:p.Gly92Cys	NC_000012.11:g.121174852G>T	OMIM Allelic Variant:606885.0003	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase
NM_000017.3(ACADS):c.310_312delGAG (p.Glu104del)	35	ACADS	Pathogenic	387906308	RCV000004037; RCV000185702;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121174888	121174890	NM_000017.3:c.310_312delGAG	NP_000008.1:p.Glu104del	NC_000012.11:g.121174888_121174890delGAG	OMIM Allelic Variant:606885.0009	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided
NM_000017.3(ACADS):c.319C>T (p.Arg107Cys)	35	ACADS	Pathogenic	61732144	RCV000004030; RCV000185680;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121174897	121174897	NM_000017.3:c.319C>T	NP_000008.1:p.Arg107Cys	NC_000012.11:g.121174897C>T	OMIM Allelic Variant:606885.0002	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided
NM_000017.3(ACADS):c.323G>A (p.Gly108Asp)	35	ACADS	Pathogenic	387906951	RCV000023587;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007	12	121174901	121174901	NM_000017.3:c.323G>A	NP_000008.1:p.Gly108Asp	NC_000012.11:g.121174901G>A	OMIM Allelic Variant:606885.0016	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase
NM_000017.3(ACADS):c.409C>T (p.Gln137Ter)	35	ACADS	Likely pathogenic	752677472	RCV000169493;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007	12	121175207	121175207	NM_000017.3:c.409C>T	NP_000008.1:p.Gln137Ter	NC_000012.11:g.121175207C>T	-	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase
NM_000017.3(ACADS):c.511C>T (p.Arg171Trp)	35	ACADS	Likely pathogenic;Pathogenic	1800556	RCV000004034; RCV000185683;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121175678	121175678	NM_000017.3:c.511C>T	NP_000008.1:p.Arg171Trp	NC_000012.11:g.121175678C>T	OMIM Allelic Variant:606885.0006	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided
NM_000017.3(ACADS):c.529T>C (p.Trp177Arg)	35	ACADS	Likely pathogenic;Pathogenic	57443665	RCV000004032; RCV000185684;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121175696	121175696	NM_000017.3:c.529T>C	NP_000008.1:p.Trp177Arg	NC_000012.11:g.121175696T>C	OMIM Allelic Variant:606885.0004	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided
NM_000017.3(ACADS):c.575C>T (p.Ala192Val)	35	ACADS	Pathogenic	28940874	RCV000004038;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007	12	121175742	121175742	NM_000017.3:c.575C>T	NP_000008.1:p.Ala192Val	NC_000012.11:g.121175742C>T	OMIM Allelic Variant:606885.0010	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase
NM_000017.3(ACADS):c.625G>A (p.Gly209Ser)	35	ACADS	Benign;Likely pathogenic;Pathogenic	1799958	RCV000004035; RCV000185685; RCV000077896;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN169374; MedGen:CN221809	12	121176083	121176083	NM_000017.3:c.625G>A	NP_000008.1:p.Gly209Ser	NC_000012.11:g.121176083G>A	HGMD:CM980010,OMIM Allelic Variant:606885.0007	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided; CN169374 not specified
NM_000017.3(ACADS):c.682_683delGA (p.Glu228Argfs)	35	ACADS	Likely pathogenic;Pathogenic	786204691	RCV000169499; RCV000185707;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121176140	121176141	NM_000017.3:c.682_683delGA	NP_000008.1:p.Glu228Argfs	NC_000012.11:g.121176140_121176141delGA	-	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided
NM_000017.3(ACADS):c.973C>T (p.Arg325Trp)	35	ACADS	Pathogenic	121908006	RCV000004039; RCV000185689;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121176662	121176662	NM_000017.3:c.973C>T	NP_000008.1:p.Arg325Trp	NC_000012.11:g.121176662C>T	OMIM Allelic Variant:606885.0011	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided
NM_000017.3(ACADS):c.1031A>G (p.Glu344Gly)	35	ACADS	Likely pathogenic;Pathogenic	387906950	RCV000023586;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007	12	121176944	121176944	NM_000017.3:c.1031A>G	NP_000008.1:p.Glu344Gly	NC_000012.11:g.121176944A>G	OMIM Allelic Variant:606885.0015	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase
NM_000017.3(ACADS):c.1058C>T (p.Ser353Leu)	35	ACADS	Pathogenic	28941773	RCV000004040; RCV000185693;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121176971	121176971	NM_000017.3:c.1058C>T	NP_000008.1:p.Ser353Leu	NC_000012.11:g.121176971C>T	OMIM Allelic Variant:606885.0012	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided
NM_000017.3(ACADS):c.1138C>T (p.Arg380Trp)	35	ACADS	Likely pathogenic;Pathogenic	28940875	RCV000004041; RCV000185699;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121177150	121177150	NM_000017.3:c.1138C>T	NP_000008.1:p.Arg380Trp	NC_000012.11:g.121177150C>G,NC_000012.11:g.121177150C>T	OMIM Allelic Variant:606885.0013	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided
NM_000017.3(ACADS):c.1147C>T (p.Arg383Cys)	35	ACADS	Pathogenic	28940872	RCV000004033; RCV000185700;	N	MedGen:C0342783,OMIM:201470,ORPHA:26792,SNOMED CT:124166007; MedGen:CN221809	12	121177159	121177159	NM_000017.3:c.1147C>T	NP_000008.1:p.Arg383Cys	NC_000012.11:g.121177159C>T	OMIM Allelic Variant:606885.0005	C0342783 201470 Deficiency of butyryl-CoA dehydrogenase; CN221809 not provided