MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Steroid Metabolism, Inborn Errors (D043202)
..Starting node ..BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Child Nodes:
Sister Nodes:
..17-Hydroxysteroid Dehydrogenase Deficiency (C537805) 1
..Adrenal Hyperplasia, Congenital (D000312) 12
..Antley-Bixler Syndrome Phenotype (D054882) 2 L: 00652;
..Bile acid synthesis defect, congenital, 1 (C535442)
..Bile acid synthesis defect, congenital, 2 (C535443)
..Bile Acid Synthesis Defect, Congenital, 3 (C566340)
..BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
..BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
..Cortisone reductase deficiency (C536447)
..Familial Glucocorticoid Deficiency 1 (C565974)
..Hypercholanemia, Familial (C564336)
..Ichthyosis, X-Linked (D016114) 2
..Lathosterolosis (C537880)
..Lyngstadaas syndrome (C537490)
..MEND SYNDROME (OMIM:300960)
..Mineralocorticoid Excess Syndrome, Apparent (D043204) 1
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Smith-Lemli-Opitz Syndrome (D019082) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1351

Name:

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6

Definition:

Alternative IDs:

DO:DOID:0111067

ParentIDs:

MESH:D043202

TreeNumbers:

C16.320.565.925/617308 |C18.452.648.925/617308

Synonyms:

CBAS6

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 617308
MeSH: 617308
OMIM: 617308;
MSeqDR :
Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000750	Delayed speech and language development NAMDC: Delayed language
4	HP:0001310	Dysmetria
5	HP:0001263	Global developmental delay NAMDC: Mental retardation
6	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
7	HP:0045014	Hypolipidemia
8	HP:0001256	Intellectual disability, mild
9	HP:0001350	Slurred speech
10	HP:0002570	Steatorrhea
11	HP:0000511	Vertical supranuclear gaze palsy
12	HP:0100512	Vitamin D deficiency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_003500.4(ACOX2):c.1720C>T (p.Arg574Cys)	8309	ACOX2	Uncertain significance	-1	RCV003139579;	N	MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308	3	58503063	58503063	NC_000003.11:g.58503063G>A	-
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)	8309	ACOX2	Conflicting interpretations of pathogenicity	150832314	RCV000417194\|RCV001865316;	N	MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308\|MedGen:C3661900	3	58517450	58517450	NC_000003.11:g.58517450G>A	ClinGen:CA2472324,OMIM:601641.0002	C4310624 617308 Bile acid synthesis defect, congenital, 6;
NM_003500.4(ACOX2):c.475+18C>T	8309	ACOX2	Benign/Likely benign	138268845	RCV002079703\|RCV002500122;	N	MedGen:C3661900\|MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308	3	58519703	58519703	58519703	-
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)	8309	ACOX2	Conflicting interpretations of pathogenicity	34391522	RCV000882237\|RCV001784474\|RCV003396528;	N	MedGen:C3661900\|MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308\|	3	58519732	58519735	3:g.58519732_58519735del	OMIM:601641.0003,OMIM:601641.0004
NM_003500.4(ACOX2):c.380G>A (p.Arg127Lys)	8309	ACOX2	Uncertain significance	1453813439	RCV001336582;	N	MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308	3	58519816	58519816	58519816	-
NM_003500.4(ACOX2):c.323+2T>C	8309	ACOX2	Pathogenic	751041263	RCV002250944;	N	MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308	3	58520085	58520085	58520085	-
NM_003500.4(ACOX2):c.207T>A (p.Tyr69Ter)	8309	ACOX2	Pathogenic	1057519329	RCV000416307;	N	MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308	3	58520203	58520203	3:g.58520203A>T	ClinGen:CA16044013,OMIM:601641.0001	C4310624 617308 Bile acid synthesis defect, congenital, 6;
NM_003500.4(ACOX2):c.182C>T (p.Pro61Leu)	8309	ACOX2	Likely benign	149303910	RCV001733601\|RCV002543918;	N	MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308\|MedGen:C3661900	3	58520228	58520228	58520228	-
NM_003500.4(ACOX2):c.161-57C>G	8309	ACOX2	Benign	7611026	RCV001548952;	N	MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308	3	58520306	58520306	58520306	-
NM_003500.4(ACOX2):c.149G>A (p.Arg50His)	8309	ACOX2	Uncertain significance	763287775	RCV000681659;	N	MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308	3	58520685	58520685	3:g.58520685C>T	-	C4310624 617308 Bile acid synthesis defect, congenital, 6;
NM_003500.4(ACOX2):c.-26T>C	8309	ACOX2	Benign	4681862	RCV001548953;	N	MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308	3	58520859	58520859	58520859	-

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