MKS5
MCID: MCK014
MIFTS: 37

Meckel Syndrome, Type 5 (MKS5)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Meckel Syndrome, Type 5

MalaCards integrated aliases for Meckel Syndrome, Type 5:

Name: Meckel Syndrome, Type 5 57 40 73
Meckel Syndrome 5 57 12 75 13 15
Mks5 57 12 75
Meckel Syndrome Type 5 29 6
Meckel-Gruber Syndrome, Type 5 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
prenatal or perinatal death
see joubert syndrome 7 , an allelic disorder with a less severe phenotype


HPO:

32
meckel syndrome, type 5:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 5

UniProtKB/Swiss-Prot : 75 Meckel syndrome 5: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

MalaCards based summary : Meckel Syndrome, Type 5, also known as meckel syndrome 5, is related to meckel syndrome, type 3 and nephronophthisis 11. An important gene associated with Meckel Syndrome, Type 5 is RPGRIP1L (RPGRIP1 Like), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include bone, kidney and liver, and related phenotypes are bowing of the long bones and cleft palate

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2.

Description from OMIM: 611561

Related Diseases for Meckel Syndrome, Type 5

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 5:



Diseases related to Meckel Syndrome, Type 5

Symptoms & Phenotypes for Meckel Syndrome, Type 5

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
bowing of the long bones

Head And Neck Eyes:
microphthalmia

Skeletal Hands:
postaxial polydactyly

Abdomen Liver:
bile duct proliferation

Head And Neck Mouth:
cleft palate
cleft lip

Neurologic Central Nervous System:
anencephaly
occipital encephalocele

Skeletal Feet:
postaxial polydactyly

Genitourinary Kidneys:
cystic renal disease


Clinical features from OMIM:

611561

Human phenotypes related to Meckel Syndrome, Type 5:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 bowing of the long bones 32 HP:0006487
2 cleft palate 32 HP:0000175
3 microphthalmia 32 HP:0000568
4 cleft upper lip 32 HP:0000204
5 abnormality of the urinary system 32 HP:0000079
6 postaxial hand polydactyly 32 HP:0001162
7 postaxial foot polydactyly 32 HP:0001830
8 anencephaly 32 HP:0002323
9 occipital encephalocele 32 HP:0002085
10 bile duct proliferation 32 HP:0001408

MGI Mouse Phenotypes related to Meckel Syndrome, Type 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.26 B9D1 B9D2 NPHP4 RPGRIP1L
2 vision/eye MP:0005391 8.92 B9D1 B9D2 NPHP4 RPGRIP1L

Drugs & Therapeutics for Meckel Syndrome, Type 5

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 5

Genetic Tests for Meckel Syndrome, Type 5

Genetic tests related to Meckel Syndrome, Type 5:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 5 29 RPGRIP1L

Anatomical Context for Meckel Syndrome, Type 5

MalaCards organs/tissues related to Meckel Syndrome, Type 5:

41
Bone, Kidney, Liver, Eye

Publications for Meckel Syndrome, Type 5

Variations for Meckel Syndrome, Type 5

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 5:

75
# Symbol AA change Variation ID SNP ID
1 RPGRIP1L p.Arg1236Cys VAR_066482 rs151332923

ClinVar genetic disease variations for Meckel Syndrome, Type 5:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPGRIP1L NM_001127897.3(RPGRIP1L): c.394A> T (p.Arg132Ter) single nucleotide variant Pathogenic rs121918201 GRCh37 Chromosome 16, 53726113: 53726113
2 RPGRIP1L NM_001127897.3(RPGRIP1L): c.394A> T (p.Arg132Ter) single nucleotide variant Pathogenic rs121918201 GRCh38 Chromosome 16, 53692201: 53692201
3 RPGRIP1L NM_001127897.3(RPGRIP1L): c.1033C> T (p.Gln345Ter) single nucleotide variant Pathogenic rs121918202 GRCh37 Chromosome 16, 53705492: 53705492
4 RPGRIP1L NM_001127897.3(RPGRIP1L): c.1033C> T (p.Gln345Ter) single nucleotide variant Pathogenic rs121918202 GRCh38 Chromosome 16, 53671580: 53671580
5 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2614C> T (p.Gln872Ter) single nucleotide variant Pathogenic rs121918203 GRCh37 Chromosome 16, 53679606: 53679606
6 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2614C> T (p.Gln872Ter) single nucleotide variant Pathogenic rs121918203 GRCh38 Chromosome 16, 53645694: 53645694
7 RPGRIP1L NM_015272.4(RPGRIP1L): c.1829A> C (p.His610Pro) single nucleotide variant Likely pathogenic rs386833997 GRCh37 Chromosome 16, 53686770: 53686770
8 RPGRIP1L NM_015272.4(RPGRIP1L): c.1829A> C (p.His610Pro) single nucleotide variant Likely pathogenic rs386833997 GRCh38 Chromosome 16, 53652858: 53652858
9 RPGRIP1L NM_015272.4(RPGRIP1L): c.723_726delTGAA (p.Asn241Lysfs) deletion Likely pathogenic rs386833998 GRCh37 Chromosome 16, 53720395: 53720398
10 RPGRIP1L NM_015272.4(RPGRIP1L): c.723_726delTGAA (p.Asn241Lysfs) deletion Likely pathogenic rs386833998 GRCh38 Chromosome 16, 53686483: 53686486
11 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2030C> T (p.Thr677Ile) single nucleotide variant Likely benign rs532768944 GRCh37 Chromosome 16, 53686569: 53686569
12 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2030C> T (p.Thr677Ile) single nucleotide variant Likely benign rs532768944 GRCh38 Chromosome 16, 53652657: 53652657

Expression for Meckel Syndrome, Type 5

Search GEO for disease gene expression data for Meckel Syndrome, Type 5.

Pathways for Meckel Syndrome, Type 5

GO Terms for Meckel Syndrome, Type 5

Cellular components related to Meckel Syndrome, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 B9D1 B9D2 NPHP4 RPGRIP1L
2 centrosome GO:0005813 9.62 B9D1 B9D2 NPHP4 RPGRIP1L
3 ciliary basal body GO:0036064 9.56 B9D1 B9D2 NPHP4 RPGRIP1L
4 cilium GO:0005929 9.55 B9D2 NPHP4 RPGRIP1L TMEM138 TMEM237
5 cell-cell junction GO:0005911 9.48 NPHP4 RPGRIP1L
6 bicellular tight junction GO:0005923 9.46 NPHP4 RPGRIP1L
7 cell projection GO:0042995 9.43 B9D1 B9D2 NPHP4 RPGRIP1L TMEM138 TMEM237
8 photoreceptor connecting cilium GO:0032391 9.4 NPHP4 RPGRIP1L
9 MKS complex GO:0036038 9.37 B9D1 B9D2
10 ciliary transition zone GO:0035869 9.02 B9D1 B9D2 NPHP4 RPGRIP1L TMEM237

Biological processes related to Meckel Syndrome, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.46 B9D1 B9D2 TMEM138 TMEM237
2 camera-type eye development GO:0043010 9.26 B9D1 RPGRIP1L
3 ciliary basal body-plasma membrane docking GO:0097711 9.26 B9D1 B9D2 NPHP4 RPGRIP1L
4 cilium assembly GO:0060271 9.02 B9D1 B9D2 RPGRIP1L TMEM138 TMEM237

Sources for Meckel Syndrome, Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....