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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: Abnormalities, Multiple (D000015)
Parent Node: Encephalocele (D004677)
Parent Node: Polycystic Kidney Diseases (D007690)
..Starting node ..Meckel Syndrome, Type 6 (C567365)
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:

6866

Name:

Meckel Syndrome, Type 6

Definition:

Alternative IDs:

OMIM:612284

ParentIDs:

MESH:D000015|MESH:D004677|MESH:D007690

TreeNumbers:

C10.500.680.488/C567365 |C12.777.419.403.875/C567365 |C13.351.968.419.403.875/C567365 |C16.131.077/C567365 |C16.131.666.680.488/C567365 |C23.300.707.186/C567365

Synonyms:

MKS6

Slim Mappings:

Congenital abnormality|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C567365
MeSH: C567365
OMIM: 612284;

Genes: CC2D2A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000812	Abnormal internal genitalia	HP:0040283
3	HP:0002323	Anencephaly	HP:0040283
4	HP:0001408	Bile duct proliferation
5	HP:0000175	Cleft palate	HP:0040283
6	HP:0000204	Cleft upper lip	HP:0040283
7	HP:0006706	Cystic liver disease	HP:0040281
8	HP:0001161	Hand polydactyly	HP:0040281
9	HP:0001395	Hepatic fibrosis
10	HP:0000238	Hydrocephalus	HP:0040283
11	HP:0002085	Occipital encephalocele	HP:0040280
12	HP:0001162	Postaxial hand polydactyly
13	HP:0002089	Pulmonary hypoplasia
14	HP:0000107	Renal cyst	HP:0040280
15	HP:0001762	Talipes equinovarus	HP:0040281

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_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter)	57545	CC2D2A	Likely pathogenic	386833763	RCV000049727;	N	MedGen:C2676790,OMIM:612284	4	15511840	15511840	NM_001080522.2:c.517C>T	NP_001073991.2:p.Arg173Ter	NC_000004.11:g.15511840C>T	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.685_687delGAA (p.Glu229del)	57545	CC2D2A	Benign;Likely pathogenic	386833764	RCV000049728; RCV000079448;	N	MedGen:C2676790,OMIM:612284; MedGen:CN169374	4	15513014	15513016	NM_001080522.2:c.685_687delGAA	NP_001073991.2:p.Glu229del	NC_000004.11:g.15513014_15513016delGAA	HGMD:CD110644	C2676790 612284 Meckel syndrome type 6; CN169374 not specified
NM_001080522.2(CC2D2A):c.834delG (p.Leu279Cysfs)	57545	CC2D2A	Likely pathogenic	386833765	RCV000049729;	N	MedGen:C2676790,OMIM:612284	4	15516446	15516446	NM_001080522.2:c.834delG	NP_001073991.2:p.Leu279Cysfs	NC_000004.11:g.15516446delG	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.1017dupC (p.Glu340Argfs)	57545	CC2D2A	Pathogenic	797044636	RCV000174035;	N	MedGen:C2676790,OMIM:612284	4	15517627	15517627	NM_001080522.2:c.1017dupC	NP_001073991.2:p.Glu340Argfs	NC_000004.11:g.15517627dupC	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.1339delG (p.Ala447Argfs)	57545	CC2D2A	Likely pathogenic	386833745	RCV000049709;	N	MedGen:C2676790,OMIM:612284	4	15529259	15529259	NM_001080522.2:c.1339delG	NP_001073991.2:p.Ala447Argfs	NC_000004.11:g.15529259delG	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.1537T>A (p.Trp513Arg)	57545	CC2D2A	Likely pathogenic	386833746	RCV000049710;	N	MedGen:C2676790,OMIM:612284	4	15534886	15534886	NM_001080522.2:c.1537T>A	NP_001073991.2:p.Trp513Arg	NC_000004.11:g.15534886T>A	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.2486+1G>C	57545	CC2D2A	Likely pathogenic	386833747	RCV000049711;	N	MedGen:C2676790,OMIM:612284	4	15554929	15554929	NM_001080522.2:c.2486+1G>C		NC_000004.11:g.15554929G>C	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter)	57545	CC2D2A	Likely pathogenic	386833748	RCV000049712;	N	MedGen:C2676790,OMIM:612284	4	15559074	15559074	NM_001080522.2:c.2773C>T	NP_001073991.2:p.Arg925Ter	NC_000004.11:g.15559074C>T	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3084delG (p.Lys1029Argfs)	57545	CC2D2A	Likely pathogenic	386833749	RCV000049713;	N	MedGen:C2676790,OMIM:612284	4	15565047	15565047	NM_001080522.2:c.3084delG	NP_001073991.2:p.Lys1029Argfs	NC_000004.11:g.15565047delG	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3145C>G (p.Arg1049Gly)	57545	CC2D2A	Likely pathogenic	386833750	RCV000049714;	N	MedGen:C2676790,OMIM:612284	4	15565108	15565108	NM_001080522.2:c.3145C>G	NP_001073991.2:p.Arg1049Gly	NC_000004.11:g.15565108C>G,NC_000004.11:g.15565108C>T	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3289delG (p.Val1097Phefs)	57545	CC2D2A	Likely pathogenic;Pathogenic	386833751	RCV000201550; RCV000049715;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15569300	15569300	NM_001080522.2:c.3289delG	NP_001073991.2:p.Val1097Phefs	NC_000004.11:g.15569300delG	-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met)	57545	CC2D2A	Likely pathogenic;Pathogenic	386833752	RCV000201581; RCV000049716;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15569352	15569352	NM_001080522.2:c.3341C>T	NP_001073991.2:p.Thr1114Met	NC_000004.11:g.15569352C>T	-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3399-3C>A	57545	CC2D2A	Likely pathogenic	386833753	RCV000049717;	N	MedGen:C2676790,OMIM:612284	4	15570913	15570913	NM_001080522.2:c.3399-3C>A		NC_000004.11:g.15570913C>A	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3522_3523insTG (p.His1175Cysfs)	57545	CC2D2A	Likely pathogenic	386833754	RCV000049718;	N	MedGen:C2676790,OMIM:612284	4	15572047	15572048	NM_001080522.2:c.3522_3523insTG	NP_001073991.2:p.His1175Cysfs	NC_000004.11:g.15572047_15572048insTG	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3544T>C (p.Trp1182Arg)	57545	CC2D2A	Likely pathogenic	386833755	RCV000049719;	N	MedGen:C2676790,OMIM:612284	4	15572069	15572069	NM_001080522.2:c.3544T>C	NP_001073991.2:p.Trp1182Arg	NC_000004.11:g.15572069T>C	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3584delT (p.Phe1195Serfs)	57545	CC2D2A	Likely pathogenic	386833756	RCV000049720;	N	MedGen:C2676790,OMIM:612284	4	15572109	15572109	NM_001080522.2:c.3584delT	NP_001073991.2:p.Phe1195Serfs	NC_000004.11:g.15572109delT	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3774dupT (p.Glu1259Terfs)	57545	CC2D2A	Likely pathogenic;Pathogenic	386833757	RCV000201709; RCV000049721;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15581593	15581593	NM_001080522.2:c.3774dupT	NP_001073991.2:p.Glu1259Terfs	NC_000004.11:g.15581593dupT	-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3893T>A (p.Val1298Asp)	57545	CC2D2A	Likely pathogenic	386833758	RCV000049722;	N	MedGen:C2676790,OMIM:612284	4	15581712	15581712	NM_001080522.2:c.3893T>A	NP_001073991.2:p.Val1298Asp	NC_000004.11:g.15581712T>A	-	C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA	57545	CC2D2A	Likely pathogenic;Pathogenic	386833759	RCV000201729; RCV000049723;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15581798	15581801	NM_001080522.2:c.3975+4_3975+7delAGTA		NC_000004.11:g.15581798_15581801delAGTA	-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.4179+1delG (p.Gly1394Valfs)	57545	CC2D2A	Likely pathogenic;Pathogenic	386833760	RCV000194003; RCV000049724;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15589553	15589553	NM_001080522.2:c.4179+1delG	NP_001073991.2:p.Gly1394Valfs		-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.4496+2T>A	57545	CC2D2A	Likely pathogenic	386833762	RCV000049726;	N	MedGen:C2676790,OMIM:612284	4	15599090	15599090	NM_001080522.2:c.4496+2T>A		NC_000004.11:g.15599090T>A	-	C2676790 612284 Meckel syndrome type 6