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

Disease Browser
Parent Node: Arthrogryposis (D001176)
Parent Node: Cholestasis (D002779)
Parent Node: Renal Insufficiency (D051437)
..Starting node ..Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
Child Nodes:
Sister Nodes:
..Acute Kidney Injury (D058186) 2
..Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
..Cardio-Renal Syndrome (D059347)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
..Hyperuricemic Nephropathy, Familial Juvenile 2 (C567760)
..Lutz Richner Landolt syndrome (C537726)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Papillorenal syndrome (C537168)
..Renal Insufficiency, Chronic (D051436) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

920

Name:

Arthrogryposis renal dysfunction cholestasis syndrome

Definition:

Alternative IDs:

OMIM:208085|OMIM:613404

ParentIDs:

MESH:D001176|MESH:D002779|MESH:D051437

TreeNumbers:

C05.550.150/C535382 |C05.651.102/C535382 |C05.660.077/C535382 |C06.130.120.135/C535382 |C12.777.419.780/C535382 |C13.351.968.419.780/C535382 |C16.131.621.077/C535382

Synonyms:

Slim Mappings:

Congenital abnormality|Digestive system disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C535382
MeSH: C535382
OMIM: 208085;

Genes: VIPAS39; VPS33B;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001892	Abnormal bleeding	HP:0040283
3	HP:0002804	Arthrogryposis multiplex congenita
4	HP:0001631	Atrial septal defect
5	HP:0002611	Cholestatic liver disease
6	HP:0002908	Conjugated hyperbilirubinemia
7	HP:0001522	Death in infancy
8	HP:0001944	Dehydration
9	HP:0002910	Elevated hepatic transaminase
10	HP:0001508	Failure to thrive
11	HP:0001290	Generalized hypotonia
12	HP:0200084	Giant cell hepatitis
13	HP:0001263	Global developmental delay
14	HP:0001385	Hip dysplasia
15	HP:0001252	Hypotonia
16	HP:0008064	Ichthyosis
17	HP:0000952	Jaundice
18	HP:0001339	Lissencephaly	HP:0040283
19	HP:0000369	Low-set ears
20	HP:0001942	Metabolic acidosis
21	HP:0000252	Microcephaly
22	HP:0000347	Micrognathia
23	HP:0000121	Nephrocalcinosis
24	HP:0009806	Nephrogenic diabetes insipidus	HP:0040283
25	HP:0000112	Nephropathy
26	HP:0001947	Renal tubular acidosis
27	HP:0001667	Right ventricular hypertrophy
28	HP:0000340	Sloping forehead
29	HP:0001884	Talipes calcaneovalgus
30	HP:0001629	Ventricular septal defect

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_018668.4(VPS33B):c.1594C>T (p.Arg532Ter)	26276	VPS33B	Pathogenic	121434383	RCV000002285;	N	MedGen:C1859722,OMIM:208085,ORPHA:2697	15	91543193	91543193	NM_018668.4:c.1594C>T	NP_061138.3:p.Arg532Ter	NC_000015.9:g.91543193G>A	OMIM Allelic Variant:608552.0001	C1859722 208085 Arthrogryposis renal dysfunction cholestasis syndrome
NM_018668.4(VPS33B):c.1312C>T (p.Arg438Ter)	26276	VPS33B	Pathogenic	121434384	RCV000002286;	N	MedGen:C1859722,OMIM:208085,ORPHA:2697	15	91545373	91545373	NM_018668.4:c.1312C>T	NP_061138.3:p.Arg438Ter	NC_000015.9:g.91545373G>A	OMIM Allelic Variant:608552.0002	C1859722 208085 Arthrogryposis renal dysfunction cholestasis syndrome
NM_018668.4(VPS33B):c.1261_1262delCA (p.Gln421Valfs)	26276	VPS33B	Pathogenic	398122408	RCV000074447;	N	MedGen:C1859722,OMIM:208085,ORPHA:2697	15	91546325	91546326	NM_018668.4:c.1261_1262delCA	NP_061138.3:p.Gln421Valfs	NC_000015.9:g.91546325_91546326delTG	OMIM Allelic Variant:608552.0007	C1859722 208085 Arthrogryposis renal dysfunction cholestasis syndrome
NM_018668.4(VPS33B):c.1225+5G>C	26276	VPS33B	Pathogenic	398122407	RCV000074446;	N	MedGen:C1859722,OMIM:208085,ORPHA:2697	15	91548102	91548102	NM_018668.4:c.1225+5G>C		NC_000015.9:g.91548102C>G	OMIM Allelic Variant:608552.0005	C1859722 208085 Arthrogryposis renal dysfunction cholestasis syndrome
NM_018668.4(VPS33B):c.1130G>C (p.Arg377Pro)	26276	VPS33B	association	864622006	RCV000204599;	N	MedGen:C1859722,OMIM:208085,ORPHA:2697	15	91548325	91548325	NM_018668.4:c.1130G>C	NP_061138.3:p.Arg377Pro	NC_000015.9:g.91548325C>G	-	C1859722 208085 Arthrogryposis renal dysfunction cholestasis syndrome
NM_018668.4(VPS33B):c.700+1G>A	26276	VPS33B	Pathogenic	794726658	RCV000002288;	N	MedGen:C1859722,OMIM:208085,ORPHA:2697	15	91550179	91550179	NM_018668.4:c.700+1G>A		NC_000015.9:g.91550179C>T	OMIM Allelic Variant:608552.0004	C1859722 208085 Arthrogryposis renal dysfunction cholestasis syndrome
NM_018668.3(VPS33B):c.240-577_290-156del	26276	VPS33B	Pathogenic	-1	RCV000074445;	N	MedGen:C1859722,OMIM:208085,ORPHA:2697	15	91557257	91558240	NM_018668.3:c.240-577_290-156del			OMIM Allelic Variant:608552.0006,dbVar:nssv3761621,dbVar:nsv1067904	C1859722 208085 Arthrogryposis renal dysfunction cholestasis syndrome
NM_018668.4(VPS33B):c.89T>C (p.Leu30Pro)	26276	VPS33B	Pathogenic	121434385	RCV000002287;	N	MedGen:C1859722,OMIM:208085,ORPHA:2697	15	91565391	91565391	NM_018668.4:c.89T>C	NP_061138.3:p.Leu30Pro	NC_000015.9:g.91565391A>G	OMIM Allelic Variant:608552.0003	C1859722 208085 Arthrogryposis renal dysfunction cholestasis syndrome