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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 2 (C536131)
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:

6862

Name:

Meckel syndrome type 2

Definition:

Alternative IDs:

OMIM:603194

ParentIDs:

MESH:D002925|MESH:D004677|MESH:D007690

TreeNumbers:

C08.200/C536131 |C09.150/C536131 |C10.500.680.488/C536131 |C12.777.419.403.875/C536131 |C13.351.968.419.403.875/C536131 |C16.131.666.680.488/C536131 |C23.300.707.186/C536131

Synonyms:

Meckel-Gruber Syndrome, Type 2 |Meckel Syndrome, Type 2 |MKS2

Slim Mappings:

Reference:

MedGen: C536131
MeSH: C536131
OMIM: 603194;

Genes: TMEM216;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002323	Anencephaly
3	HP:0001408	Bile duct proliferation
4	HP:0006487	Bowing of the long bones
5	HP:0000175	Cleft palate
6	HP:0001305	Dandy-Walker malformation	HP:0040283
7	HP:0002084	Encephalocele
8	HP:0001511	Intrauterine growth retardation
9	HP:0002435	Meningocele
10	HP:0000568	Microphthalmia	HP:0040283
11	HP:0010442	Polydactyly
12	HP:0001162	Postaxial hand polydactyly
13	HP:0000107	Renal cyst

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_001173990.2(TMEM216):c.218G>A (p.Arg73His)	51259	TMEM216	Pathogenic	201108965	RCV000000221; RCV000024013;	N	MedGen:C1842577,OMIM:608091; MedGen:C1864148,OMIM:603194	11	61161437	61161437	NM_001173990.2:c.218G>A	NP_001167461.1:p.Arg73His	NC_000011.9:g.61161437G>A,NC_000011.9:g.61161437G>T	OMIM Allelic Variant:613277.0002	C1842577 608091 Joubert syndrome 2; C1864148 603194 Meckel syndrome type 2
NM_001173991.2(TMEM216):c.230G>C (p.Gly77Ala)	51259	TMEM216	Likely pathogenic;Pathogenic	386833830	RCV000000223;	N	MedGen:C1864148,OMIM:603194	11	61165246	61165246	NM_001173991.2:c.230G>C	NP_001167462.1:p.Gly77Ala	NC_000011.9:g.61165246G>C	OMIM Allelic Variant:613277.0004	C1864148 603194 Meckel syndrome type 2
NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter)	51259	TMEM216	Likely pathogenic;Pathogenic	11230683	RCV000201650; RCV000049797;	N	MedGen:C1842577,OMIM:608091; MedGen:C1864148,OMIM:603194	11	61165269	61165269	NM_001173990.2:c.253C>T	NP_001167461.1:p.Arg85Ter	NC_000011.9:g.61165269C>T	-	C1842577 608091 Joubert syndrome 2; C1864148 603194 Meckel syndrome type 2
NM_001173991.2(TMEM216):c.341T>G (p.Leu114Arg)	51259	TMEM216	Likely pathogenic;Pathogenic	386833831	RCV000000222;	N	MedGen:C1864148,OMIM:603194	11	61165357	61165357	NM_001173991.2:c.341T>G	NP_001167462.1:p.Leu114Arg	NC_000011.9:g.61165357T>G	OMIM Allelic Variant:613277.0003	C1864148 603194 Meckel syndrome type 2