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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

Hearing Loss Disease Portal

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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 5 (C566915)
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:

6865

Name:

Meckel Syndrome, Type 5

Definition:

Alternative IDs:

OMIM:611561

ParentIDs:

MESH:D000015|MESH:D004677|MESH:D007690

TreeNumbers:

C10.500.680.488/C566915 |C12.777.419.403.875/C566915 |C13.351.968.419.403.875/C566915 |C16.131.077/C566915 |C16.131.666.680.488/C566915 |C23.300.707.186/C566915

Synonyms:

MKS5

Slim Mappings:

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

Reference:

MedGen: C566915
MeSH: C566915
OMIM: 611561;

Genes: RPGRIP1L;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000079	Abnormality of the urinary system
3	HP:0002323	Anencephaly
4	HP:0001408	Bile duct proliferation
5	HP:0006487	Bowing of the long bones
6	HP:0000175	Cleft palate
7	HP:0000204	Cleft upper lip
8	HP:0001425	Heterogeneous
9	HP:0000568	Microphthalmia
10	HP:0002085	Occipital encephalocele
11	HP:0001830	Postaxial foot polydactyly
12	HP:0001162	Postaxial hand polydactyly

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_001127897.2(RPGRIP1L):c.2614C>T (p.Gln872Ter)	23322	RPGRIP1L	Pathogenic	121918203	RCV000175207; RCV000033207; RCV000081724;	N	MedGen:C1969052,OMIM:611561; MedGen:C1969053,OMIM:611560; MedGen:CN221809	16	53679606	53679606	NM_001127897.2:c.2614C>T	NP_001121369.1:p.Gln872Ter	NC_000016.9:g.53679606G>A	HGMD:CM073315,OMIM Allelic Variant:610937.0007	C1969053 611560 Joubert syndrome 7; C1969052 611561 Meckel syndrome type 5; CN221809 not provided
NM_001127897.2(RPGRIP1L):c.2030C>T (p.Thr677Ile)	23322	RPGRIP1L	Pathogenic	532768944	RCV000174928; RCV000174929;	N	MedGen:C1969052,OMIM:611561; MedGen:C1969053,OMIM:611560	16	53686569	53686569	NM_001127897.2:c.2030C>T	NP_001121369.1:p.Thr677Ile	NC_000016.9:g.53686569G>A	-	C1969053 611560 Joubert syndrome 7; C1969052 611561 Meckel syndrome type 5
NM_015272.3(RPGRIP1L):c.1829A>C (p.His610Pro)	23322	RPGRIP1L	Likely pathogenic	386833997	RCV000049974;	N	MedGen:C1969052,OMIM:611561	16	53686770	53686770	NM_015272.3:c.1829A>C	NP_056087.2:p.His610Pro	NC_000016.9:g.53686770T>G	-	C1969052 611561 Meckel syndrome type 5
NM_001127897.2(RPGRIP1L):c.1033C>T (p.Gln345Ter)	23322	RPGRIP1L	Pathogenic	121918202	RCV000001128;	N	MedGen:C1969052,OMIM:611561	16	53705492	53705492	NM_001127897.2:c.1033C>T	NP_001121369.1:p.Gln345Ter	NC_000016.9:g.53705492G>A	OMIM Allelic Variant:610937.0006	C1969052 611561 Meckel syndrome type 5
NM_015272.3(RPGRIP1L):c.723_726delTGAA (p.Asn241Lysfs)	23322	RPGRIP1L	Likely pathogenic	386833998	RCV000049975;	N	MedGen:C1969052,OMIM:611561	16	53720395	53720398	NM_015272.3:c.723_726delTGAA	NP_056087.2:p.Asn241Lysfs	NC_000016.9:g.53720395_53720398delTTCA	-	C1969052 611561 Meckel syndrome type 5
NM_001127897.2(RPGRIP1L):c.394A>T (p.Arg132Ter)	23322	RPGRIP1L	Pathogenic	121918201	RCV000001127;	N	MedGen:C1969052,OMIM:611561	16	53726113	53726113	NM_001127897.2:c.394A>T	NP_001121369.1:p.Arg132Ter	NC_000016.9:g.53726113T>A	OMIM Allelic Variant:610937.0005	C1969052 611561 Meckel syndrome type 5