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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

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

Disease Browser
Parent Node: Ciliary Motility Disorders (D002925)
Parent Node: Encephalocele (D004677)
Parent Node: Polycystic Kidney Diseases (D007690)
..Starting node ..Meckel syndrome type 1 (C536133)
Child Nodes:
Sister Nodes:
..Arima syndrome (C537430)
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Daneman Davy Mancer syndrome (C535986)
..Meckel syndrome type 1 (C536133)
..Meckel syndrome type 2 (C536131)
..Meckel syndrome type 3 (C536132)
..Meckel Syndrome, Type 4 (C567003)
..Meckel Syndrome, Type 5 (C566915)
..Meckel Syndrome, Type 6 (C567365)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Polycystic kidney disease, type 1 (C536326)
..Polycystic Kidney, Autosomal Dominant (D016891) 3
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
..Potter Type III Polycystic Kidney Disease (C566792)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6861

Name:

Meckel syndrome type 1

Definition:

Alternative IDs:

OMIM:249000

ParentIDs:

MESH:D002925|MESH:D004677|MESH:D007690

TreeNumbers:

C08.200/C536133 |C09.150/C536133 |C10.500.680.488/C536133 |C12.777.419.403.875/C536133 |C13.351.968.419.403.875/C536133 |C16.131.666.680.488/C536133 |C23.300.707.186/C536133

Synonyms:

Slim Mappings:

Reference:

MedGen: C536133
MeSH: C536133
OMIM: 249000;

Genes: MKS1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001671	Abnormal cardiac septum morphology
3	HP:0001600	Abnormality of the larynx
4	HP:0000069	Abnormality of the ureter
5	HP:0000130	Abnormality of the uterus
6	HP:0001747	Accessory spleen
7	HP:0000835	Adrenal hypoplasia
8	HP:0001274	Agenesis of corpus callosum
9	HP:0000061	Ambiguous genitalia, female
10	HP:0000033	Ambiguous genitalia, male
11	HP:0002023	Anal atresia
12	HP:0002323	Anencephaly
13	HP:0002308	Arnold-Chiari malformation
14	HP:0001746	Asplenia
15	HP:0001408	Bile duct proliferation
16	HP:0006487	Bowing of the long bones
17	HP:0001623	Breech presentation
18	HP:0001321	Cerebellar hypoplasia
19	HP:0006872	Cerebral hypoplasia
20	HP:0000175	Cleft palate
21	HP:0000204	Cleft upper lip
22	HP:0030084	Clinodactyly
23	HP:0001680	Coarctation of aorta
24	HP:0000028	Cryptorchidism
25	HP:0001305	Dandy-Walker malformation
26	HP:0004639	Elevated amniotic fluid alpha-fetoprotein
27	HP:0003241	External genital hypoplasia
28	HP:0001829	Foot polydactyly
29	HP:0000238	Hydrocephalus
30	HP:0000316	Hypertelorism
31	HP:0005343	Hypoplasia of the bladder
32	HP:0000601	Hypotelorism
33	HP:0002566	Intestinal malrotation
34	HP:0001511	Intrauterine growth retardation
35	HP:0000612	Iris coloboma
36	HP:0006267	Large placenta
37	HP:0000180	Lobulated tongue
38	HP:0000369	Low-set ears
39	HP:0000252	Microcephaly
40	HP:0000347	Micrognathia
41	HP:0000568	Microphthalmia
42	HP:0000695	Natal tooth
43	HP:0002085	Occipital encephalocele
44	HP:0001341	Olfactory lobe agenesis
45	HP:0001562	Oligohydramnios
46	HP:0001539	Omphalocele
47	HP:0001643	Patent ductus arteriosus
48	HP:0000113	Polycystic kidney dysplasia
49	HP:0001162	Postaxial hand polydactyly
50	HP:0002089	Pulmonary hypoplasia
51	HP:0009466	Radial deviation of finger
52	HP:0000104	Renal agenesis
53	HP:0000470	Short neck
54	HP:0001195	Single umbilical artery
55	HP:0000340	Sloping forehead
56	HP:0001744	Splenomegaly
57	HP:0001159	Syndactyly
58	HP:0001883	Talipes
59	HP:0000465	Webbed neck
60	HP:0000154	Wide mouth

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_017777.3(MKS1):c.1490G>A (p.Arg497Lys)	54903	MKS1	Likely pathogenic	386834045	RCV000050031;	N	MedGen:C3714506,OMIM:249000	17	56283826	56283826	NM_017777.3:c.1490G>A	NP_060247.2:p.Arg497Lys	NC_000017.10:g.56283826C>T	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.1450_1453dupGGCA (p.Thr485Argfs)	54903	MKS1	Likely pathogenic	386834044	RCV000050030;	N	MedGen:C3714506,OMIM:249000	17	56283863	56283866	NM_017777.3:c.1450_1453dupGGCA	NP_060247.2:p.Thr485Argfs	NC_000017.10:g.56283863_56283866dupTGCC	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.1408-34_1408-6delAGAAACCTGAGGCTGTCCCAATGGCATGC	54903	MKS1	Pathogenic	386834043	RCV000168467; RCV000210823;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C3714506,OMIM:249000	17	56283914	56283942	NM_017777.3:c.1408-34_1408-6delAGAAACCTGAGGCTGTCCCAATGGCATGC		NC_000017.10:g.56283914_56283942del29	OMIM Allelic Variant:609883.0001	C3714506 249000 Meckel syndrome type 1; C0265215 Meckel-Gruber syndrome
NM_017777.3(MKS1):c.1407+2delT	54903	MKS1	Likely pathogenic	386834042	RCV000050028;	N	MedGen:C3714506,OMIM:249000	17	56284444	56284444	NM_017777.3:c.1407+2delT		NC_000017.10:g.56284444delA	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.1048C>G (p.Gln350Glu)	54903	MKS1	Likely pathogenic	386834041	RCV000050026;	N	MedGen:C3714506,OMIM:249000	17	56285921	56285921	NM_017777.3:c.1048C>G	NP_060247.2:p.Gln350Glu	NC_000017.10:g.56285921G>A,NC_000017.10:g.56285921G>C	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.1048C>T (p.Gln350Ter)	54903	MKS1	Likely pathogenic	386834041	RCV000050027;	N	MedGen:C3714506,OMIM:249000	17	56285921	56285921	NM_017777.3:c.1048C>T	NP_060247.2:p.Gln350Ter	NC_000017.10:g.56285921G>A,NC_000017.10:g.56285921G>C	-	C3714506 249000 Meckel syndrome type 1
NM_001165927.1(MKS1):c.995-2A>C	54903	MKS1	Pathogenic	794727070	RCV000174384;	N	MedGen:C3714506,OMIM:249000	17	56285946	56285946	NM_001165927.1:c.995-2A>C		NC_000017.10:g.56285946T>G	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.1024+1G>A	54903	MKS1	Likely pathogenic;Pathogenic	199874059	RCV000022414;	N	MedGen:C3714506,OMIM:249000	17	56288019	56288019	NM_017777.3:c.1024+1G>A		NC_000017.10:g.56288019C>T	OMIM Allelic Variant:609883.0004	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.958G>A (p.Val320Ile)	54903	MKS1	Likely pathogenic	386834053	RCV000050040;	N	MedGen:C3714506,OMIM:249000	17	56288341	56288341	NM_017777.3:c.958G>A	NP_060247.2:p.Val320Ile	NC_000017.10:g.56288341C>T	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.844C>T (p.Arg282Ter)	54903	MKS1	Pathogenic	797045706	RCV000194216;	N	MedGen:C3714506,OMIM:249000	17	56290357	56290357	NM_017777.3:c.844C>T	NP_060247.2:p.Arg282Ter	NC_000017.10:g.56290357G>A	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.515+1G>A	54903	MKS1	Likely pathogenic	201933838	RCV000050037;	N	MedGen:C3714506,OMIM:249000	17	56292101	56292101	NM_017777.3:c.515+1G>A		NC_000017.10:g.56292101C>T	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.472C>T (p.Arg158Ter)	54903	MKS1	Likely pathogenic	386834050	RCV000050036;	N	MedGen:C3714506,OMIM:249000	17	56292145	56292145	NM_017777.3:c.472C>T	NP_060247.2:p.Arg158Ter	NC_000017.10:g.56292145G>A	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.424C>T (p.Gln142Ter)	54903	MKS1	Likely pathogenic	386834049	RCV000050035;	N	MedGen:C3714506,OMIM:249000	17	56292193	56292193	NM_017777.3:c.424C>T	NP_060247.2:p.Gln142Ter	NC_000017.10:g.56292193G>A	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.417G>A (p.Glu139=)	54903	MKS1	Likely pathogenic;Pathogenic	386834048	RCV000022415; RCV000201633;	N	MedGen:C3714506,OMIM:249000; MedGen:CN205134, Orphanet:ORPHA475	17	56293449	56293449	NM_017777.3:c.417G>A	NP_060247.2:p.Glu139=	NC_000017.10:g.56293449C>T	OMIM Allelic Variant:609883.0005	CN205134 Joubert syndrome; C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.392_393delCT (p.Ser131Terfs)	54903	MKS1	Likely pathogenic	386834047	RCV000050033;	N	MedGen:C3714506,OMIM:249000	17	56293473	56293474	NM_017777.3:c.392_393delCT	NP_060247.2:p.Ser131Terfs	NC_000017.10:g.56293473_56293474delAG	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.184_190delACTGCCA (p.Thr62Valfs)	54903	MKS1	Likely pathogenic	386834046	RCV000050032;	N	MedGen:C3714506,OMIM:249000	17	56295981	56295987	NM_017777.3:c.184_190delACTGCCA	NP_060247.2:p.Thr62Valfs	NC_000017.10:g.56295981_56295987delTGGCAGT	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.80+2T>C	54903	MKS1	Likely pathogenic;Pathogenic	386834052	RCV000022413;	N	MedGen:C3714506,OMIM:249000	17	56296510	56296510	NM_017777.3:c.80+2T>C		NC_000017.10:g.56296510A>G	OMIM Allelic Variant:609883.0003	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.51_55dupCCGGG (p.Asp19Alafs)	54903	MKS1	Likely pathogenic	386834051	RCV000050038;	N	MedGen:C3714506,OMIM:249000	17	56296537	56296541	NM_017777.3:c.51_55dupCCGGG	NP_060247.2:p.Asp19Alafs	NC_000017.10:g.56296537_56296541dupCCCGG	-	C3714506 249000 Meckel syndrome type 1
NM_017777.3(MKS1):c.50_54dupCCCGG (p.Asp19Profs)	54903	MKS1	Pathogenic	730880323	RCV000022412;	N	MedGen:C3714506,OMIM:249000	17	56296538	56296542	NM_017777.3:c.50_54dupCCCGG	NP_060247.2:p.Asp19Profs	NC_000017.10:g.56296538_56296542dupCCGGG	OMIM Allelic Variant:609883.0002	C3714506 249000 Meckel syndrome type 1