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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: Adrenoleukodystrophy (D000326)
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
..Starting node ..Peroxisomal ACYL-COA oxidase deficiency (C536662)
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:

8836

Name:

Peroxisomal ACYL-COA oxidase deficiency

Definition:

Alternative IDs:

OMIM:264470

ParentIDs:

MESH:D000326|MESH:D008052

TreeNumbers:

C10.228.140.163.100.362.250/C536662 |C10.228.140.163.100.680.100/C536662 |C10.228.140.695.625.250/C536662 |C10.314.400.250/C536662 |C10.597.606.643.455.124/C536662 |C16.320.322.500.124/C536662 |C16.320.400.525.124/C536662 |C16.320.565.189.362.250/C536662 |C16.32

Synonyms:

Pseudoneonatal adrenoleukodystrophy |Straight-chain ACYL-COA oxidase deficiency

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C536662
MeSH: C536662
OMIM: 264470;

Genes: ACOX1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0003487	Babinski sign
4	HP:0008619	Bilateral sensorineural hearing impairment
5	HP:0000248	Brachycephaly
6	HP:0007305	CNS demyelination
7	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
8	HP:0005280	Depressed nasal bridge
9	HP:0002376	Developmental regression
10	HP:0006555	Diffuse hepatic steatosis
11	HP:0002015	Dysphagia
12	HP:0001332	Dystonia
13	HP:0002910	Elevated hepatic transaminase
14	HP:0002007	Frontal bossing
15	HP:0002240	Hepatomegaly
16	HP:0000316	Hypertelorism
17	HP:0001276	Hypertonia
18	HP:0006887	Intellectual disability, progressive
19	HP:0010864	Intellectual disability, severe
20	HP:0003186	Inverted nipples
21	HP:0000737	Irritability
22	HP:0002415	Leukodystrophy
23	HP:0000369	Low-set ears
24	HP:0001319	Neonatal hypotonia
25	HP:0008763	No social interaction
26	HP:0000639	Nystagmus
27	HP:0000547	obsolete Tapetoretinal degeneration
28	HP:0000648	Optic atrophy
29	HP:0000580	Pigmentary retinopathy
30	HP:0001250	Seizure
31	HP:0011344	Severe global developmental delay
32	HP:0000486	Strabismus
33	HP:0000431	Wide nasal bridge

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_004035.6(ACOX1):c.1851delT (p.Gly618Alafs)	51	ACOX1	Likely pathogenic	797045080	RCV000190564;	N	MedGen:C1849678,OMIM:264470,ORPHA:2971	17	73944416	73944416	NM_004035.6:c.1851delT	NP_004026.2:p.Gly618Alafs	NC_000017.10:g.73944416delA	-	C1849678 264470 Pseudoneonatal adrenoleukodystrophy
NM_004035.6(ACOX1):c.926A>G (p.Gln309Arg)	51	ACOX1	Pathogenic	118204092	RCV000001566;	N	MedGen:C1849678,OMIM:264470,ORPHA:2971	17	73949550	73949550	NM_004035.6:c.926A>G	NP_004026.2:p.Gln309Arg	NC_000017.10:g.73949550T>C	OMIM Allelic Variant:609751.0004	C1849678 264470 Pseudoneonatal adrenoleukodystrophy
NM_004035.6(ACOX1):c.832A>G (p.Met278Val)	51	ACOX1	Pathogenic	118204090	RCV000001564;	N	MedGen:C1849678,OMIM:264470,ORPHA:2971	17	73949644	73949644	NM_004035.6:c.832A>G	NP_004026.2:p.Met278Val	NC_000017.10:g.73949644T>C	OMIM Allelic Variant:609751.0002	C1849678 264470 Pseudoneonatal adrenoleukodystrophy
NM_004035.6(ACOX1):c.532G>T (p.Gly178Cys)	51	ACOX1	Pathogenic	118204091	RCV000001565;	N	MedGen:C1849678,OMIM:264470,ORPHA:2971	17	73953546	73953546	NM_004035.6:c.532G>T	NP_004026.2:p.Gly178Cys	NC_000017.10:g.73953546C>A	OMIM Allelic Variant:609751.0003	C1849678 264470 Pseudoneonatal adrenoleukodystrophy
NM_004035.6(ACOX1):c.442C>T (p.Arg148Ter)	51	ACOX1	Pathogenic	118204093	RCV000001567;	N	MedGen:C1849678,OMIM:264470,ORPHA:2971	17	73953636	73953636	NM_004035.6:c.442C>T	NP_004026.2:p.Arg148Ter	NC_000017.10:g.73953636G>A	OMIM Allelic Variant:609751.0005	C1849678 264470 Pseudoneonatal adrenoleukodystrophy
NM_004035.6(ACOX1):c.372_389del18 (p.Phe124_Asn129del)	51	ACOX1	Pathogenic	387906248	RCV000001568;	N	MedGen:C1849678,OMIM:264470,ORPHA:2971	17	73956337	73956354	NM_004035.6:c.372_389del18	NP_004026.2:p.Phe124_Asn129del	NC_000017.10:g.73956337_73956354del18	OMIM Allelic Variant:609751.0006	C1849678 264470 Pseudoneonatal adrenoleukodystrophy
NM_004035.6(ACOX1):c.176G>C (p.Arg59Pro)	51	ACOX1	Likely pathogenic	777937235	RCV000196696;	N	MedGen:C1849678,OMIM:264470,ORPHA:2971	17	73974708	73974708	NM_004035.6:c.176G>C	NP_004026.2:p.Arg59Pro	NC_000017.10:g.73974708C>G	-	C1849678 264470 Pseudoneonatal adrenoleukodystrophy