MKS5
MCID: MCK014
MIFTS: 45

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 29 6 39 70
Meckel Syndrome 5 57 12 72 29 13 15
Mks5 57 12 72
Meckel-Gruber Syndrome, Type 5 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
meckel syndrome, type 5:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0070119
OMIM® 57 611561
OMIM Phenotypic Series 57 PS249000
ICD10 32 Q61.9
MedGen 41 C1969052
UMLS 70 C1969052

Summaries for Meckel Syndrome, Type 5

UniProtKB/Swiss-Prot : 72 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 ciliopathy and orofaciodigital syndrome. 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 kidney, 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.

More information from OMIM: 611561 PS249000

Related Diseases for Meckel Syndrome, Type 5

Diseases in the Meckel Syndrome, Type 1 family:

Meckel Syndrome, Type 7 Meckel Syndrome, Type 2
Meckel Syndrome, Type 3 Meckel Syndrome, Type 4
Meckel Syndrome, Type 5 Meckel Syndrome, Type 6
Meckel Syndrome, Type 8 Meckel Syndrome, Type 10
Meckel Syndrome, Type 9 Meckel Syndrome, Type 11
Meckel Syndrome 12 Meckel Syndrome 13

Diseases related to Meckel Syndrome, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 29.4 TMEM67 TMEM231 RPGRIP1L NPHP4 CEP290 CC2D2A
2 orofaciodigital syndrome 28.1 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TCTN1
3 meckel syndrome, type 4 26.9 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
4 orofaciodigital syndrome vi 26.9 TMEM67 TMEM237 TMEM231 TMEM216 TMEM17 TCTN2
5 nephronophthisis 25.9 TMEM67 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107
6 cone-rod dystrophy 13 10.3 RPGRIP1L NPHP4
7 rhyns syndrome 10.2 TMEM67 TMEM231
8 orofaciodigital syndrome iv 10.2 TMEM231 TMEM216
9 nephronophthisis 13 10.2 NPHP4 NPHP1
10 nephronophthisis 18 10.2 NPHP4 NPHP1
11 retinitis pigmentosa 54 10.2 TMEM231 CC2D2A
12 nephronophthisis 15 10.1 NPHP4 NPHP1
13 congenital hepatic fibrosis 10.1 TMEM67 RPGRIP1L CC2D2A
14 nephronophthisis 4 10.1 NPHP4 NPHP1
15 leber congenital amaurosis 3 10.1 NPHP4 CEP290
16 acrocallosal syndrome 10.1 TMEM216 RPGRIP1L NPHP1
17 leber congenital amaurosis 6 10.1 MKS1 CEP290
18 polycystic kidney disease 2 with or without polycystic liver disease 10.1 TMEM67 NPHP4 MKS1
19 tubulointerstitial kidney disease, autosomal dominant, 1 10.1 NPHP4 NPHP1
20 choroid disease 10.1 DCAF8 CEP290
21 bardet-biedl syndrome 13 10.1 MKS1 CEP290 CC2D2B
22 ellis-van creveld syndrome 10.1 TMEM216 RPGRIP1L CEP290
23 bardet-biedl syndrome 6 10.0 RPGRIP1L MKS1 CEP290
24 bardet-biedl syndrome 11 10.0 RPGRIP1L MKS1 CEP290
25 oligohydramnios 10.0 TMEM67 MKS1 CC2D2A
26 retinal aplasia 10.0 NPHP4 NPHP1 CEP290
27 renal-hepatic-pancreatic dysplasia 10.0 NPHP4 NPHP1 CEP290
28 polycystic liver disease 1 with or without kidney cysts 10.0 NPHP4 NPHP1
29 physical disorder 10.0 TMEM67 MKS1 CEP290
30 bardet-biedl syndrome 8 10.0 MKS1 CEP290
31 pathologic nystagmus 9.9 TMEM67 MKS1 CEP290
32 cone-rod dystrophy 16 9.9 TMEM231 B9D1
33 polycystic kidney disease 9.9 TMEM67 MKS1 CEP290 CC2D2A
34 orofaciodigital syndrome i 9.9 TMEM17 CEP290
35 juvenile nephronophthisis 9.8 TMEM67 NPHP4 NPHP1 CEP290
36 johanson-blizzard syndrome 9.8 TMEM231 TMEM216 RPGRIP1L CEP290 CC2D2A
37 polydactyly 9.8 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
38 nephronophthisis 1 9.8 NPHP4 NPHP1 MKS1 CC2D2B B9D2 B9D1
39 nephronophthisis 16 9.8 TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290
40 cogan syndrome 9.8 RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A
41 short-rib thoracic dysplasia 6 with or without polydactyly 9.7 TMEM67 TMEM216 TCTN2 TCTN1
42 retinal degeneration 9.7 TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290
43 encephalocele 9.6 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
44 joubert syndrome 9 9.6 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
45 bardet-biedl syndrome 14 9.6 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
46 apraxia 9.6 TMEM67 TCTN2 NPHP1 CEP290 CC2D2A
47 polycystic kidney disease 1 with or without polycystic liver disease 9.6 TMEM67 RPGRIP1L NPHP4 NPHP1 MKS1 CEP290
48 neural tube defects 9.6 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
49 joubert syndrome 10 9.6 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CC2D2A
50 joubert syndrome 24 9.6 TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1

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

Human phenotypes related to Meckel Syndrome, Type 5:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 bowing of the long bones 31 HP:0006487
2 cleft palate 31 HP:0000175
3 cleft upper lip 31 HP:0000204
4 microphthalmia 31 HP:0000568
5 abnormality of the urinary system 31 HP:0000079
6 postaxial hand polydactyly 31 HP:0001162
7 postaxial foot polydactyly 31 HP:0001830
8 anencephaly 31 HP:0002323
9 occipital encephalocele 31 HP:0002085
10 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Meckel Syndrome, Type 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 B9D1 B9D2 CC2D2A CEP290 DCAF8 MKS1
2 cellular MP:0005384 10.23 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
3 craniofacial MP:0005382 10.09 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
4 embryo MP:0005380 10.07 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN1
5 limbs/digits/tail MP:0005371 10.02 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN1
6 digestive/alimentary MP:0005381 10.01 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
7 nervous system MP:0003631 10 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
8 liver/biliary system MP:0005370 9.86 B9D1 B9D2 CEP290 DCAF8 MKS1 RPGRIP1L
9 renal/urinary system MP:0005367 9.65 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
10 vision/eye MP:0005391 9.4 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1

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
2 Meckel Syndrome 5 29

Anatomical Context for Meckel Syndrome, Type 5

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

40
Kidney

Publications for Meckel Syndrome, Type 5

Articles related to Meckel Syndrome, Type 5:

# Title Authors PMID Year
1
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 6 57
17558409 2007
2
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. 61
26982032 2016
3
Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance. 61
26392567 2015
4
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. 61
22152675 2011
5
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 61
19777577 2009

Variations for Meckel Syndrome, Type 5

ClinVar genetic disease variations for Meckel Syndrome, Type 5:

6 (show top 50) (show all 143)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPGRIP1L NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) SNV Pathogenic 1072 rs121918201 GRCh37: 16:53726113-53726113
GRCh38: 16:53692201-53692201
2 RPGRIP1L NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter) SNV Pathogenic 1073 rs121918202 GRCh37: 16:53705492-53705492
GRCh38: 16:53671580-53671580
3 RPGRIP1L NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) SNV Pathogenic 1074 rs121918203 GRCh37: 16:53679606-53679606
GRCh38: 16:53645694-53645694
4 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) SNV Pathogenic 1076 rs121918204 GRCh37: 16:53686549-53686549
GRCh38: 16:53652637-53652637
5 RPGRIP1L NM_015272.5(RPGRIP1L):c.2581_2582insG (p.Leu861fs) Insertion Pathogenic 1032670 GRCh37: 16:53679638-53679639
GRCh38: 16:53645726-53645727
6 RPGRIP1L NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) SNV Likely pathogenic 1074 rs121918203 GRCh37: 16:53679606-53679606
GRCh38: 16:53645694-53645694
7 RPGRIP1L NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro) SNV Likely pathogenic 56561 rs386833997 GRCh37: 16:53686770-53686770
GRCh38: 16:53652858-53652858
8 RPGRIP1L NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs) Deletion Likely pathogenic 56562 rs386833998 GRCh37: 16:53720395-53720398
GRCh38: 16:53686483-53686486
9 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1584G>T SNV Uncertain significance 319626 rs151226475 GRCh37: 16:53634404-53634404
GRCh38: 16:53600492-53600492
10 RPGRIP1L NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) SNV Uncertain significance 319654 rs886052095 GRCh37: 16:53674977-53674977
GRCh38: 16:53641065-53641065
11 RPGRIP1L NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) SNV Uncertain significance 319658 rs532412372 GRCh37: 16:53679806-53679806
GRCh38: 16:53645894-53645894
12 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1482G>A SNV Uncertain significance 319627 rs192765976 GRCh37: 16:53634506-53634506
GRCh38: 16:53600594-53600594
13 RPGRIP1L NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) SNV Uncertain significance 319664 rs144023021 GRCh37: 16:53705440-53705440
GRCh38: 16:53671528-53671528
14 RPGRIP1L NM_015272.5(RPGRIP1L):c.*626A>C SNV Uncertain significance 319636 rs886052089 GRCh37: 16:53635362-53635362
GRCh38: 16:53601450-53601450
15 RPGRIP1L NM_015272.5(RPGRIP1L):c.*698T>C SNV Uncertain significance 319635 rs545786772 GRCh37: 16:53635290-53635290
GRCh38: 16:53601378-53601378
16 RPGRIP1L NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) SNV Uncertain significance 319666 rs182207372 GRCh37: 16:53726204-53726204
GRCh38: 16:53692292-53692292
17 RPGRIP1L NM_015272.5(RPGRIP1L):c.*269C>T SNV Uncertain significance 319642 rs190566840 GRCh37: 16:53635719-53635719
GRCh38: 16:53601807-53601807
18 RPGRIP1L NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) SNV Uncertain significance 260599 rs775153934 GRCh37: 16:53679562-53679562
GRCh38: 16:53645650-53645650
19 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1309C>A SNV Uncertain significance 319628 rs145688896 GRCh37: 16:53634679-53634679
GRCh38: 16:53600767-53600767
20 RPGRIP1L NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) SNV Uncertain significance 319660 rs117364872 GRCh37: 16:53682979-53682979
GRCh38: 16:53649067-53649067
21 RPGRIP1L NM_015272.5(RPGRIP1L):c.*980T>C SNV Uncertain significance 319631 rs886052087 GRCh37: 16:53635008-53635008
GRCh38: 16:53601096-53601096
22 RPGRIP1L NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) SNV Uncertain significance 319661 rs141979202 GRCh37: 16:53686639-53686639
GRCh38: 16:53652727-53652727
23 RPGRIP1L NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) SNV Uncertain significance 319663 rs76600508 GRCh37: 16:53692703-53692703
GRCh38: 16:53658791-53658791
24 RPGRIP1L NM_015272.5(RPGRIP1L):c.*119C>T SNV Uncertain significance 319644 rs886052091 GRCh37: 16:53635869-53635869
GRCh38: 16:53601957-53601957
25 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1883C>G SNV Uncertain significance 319623 rs886052086 GRCh37: 16:53634105-53634105
GRCh38: 16:53600193-53600193
26 RPGRIP1L NM_015272.5(RPGRIP1L):c.*506T>G SNV Uncertain significance 319638 rs778362441 GRCh37: 16:53635482-53635482
GRCh38: 16:53601570-53601570
27 RPGRIP1L NM_015272.5(RPGRIP1L):c.*332T>G SNV Uncertain significance 319640 rs544840421 GRCh37: 16:53635656-53635656
GRCh38: 16:53601744-53601744
28 RPGRIP1L NM_015272.5(RPGRIP1L):c.-9C>T SNV Uncertain significance 319672 rs779839225 GRCh37: 16:53737716-53737716
GRCh38: 16:53703804-53703804
29 RPGRIP1L NM_015272.5(RPGRIP1L):c.*418G>A SNV Uncertain significance 319639 rs886052090 GRCh37: 16:53635570-53635570
GRCh38: 16:53601658-53601658
30 RPGRIP1L NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) SNV Uncertain significance 319662 rs886052097 GRCh37: 16:53690499-53690499
GRCh38: 16:53656587-53656587
31 RPGRIP1L NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) SNV Uncertain significance 319651 rs371616177 GRCh37: 16:53671648-53671648
GRCh38: 16:53637736-53637736
32 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1035T>C SNV Uncertain significance 319630 rs763384255 GRCh37: 16:53634953-53634953
GRCh38: 16:53601041-53601041
33 RPGRIP1L NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) SNV Uncertain significance 319652 rs886052094 GRCh37: 16:53671674-53671674
GRCh38: 16:53637762-53637762
34 RPGRIP1L NM_015272.5(RPGRIP1L):c.*532T>C SNV Uncertain significance 319637 rs184520009 GRCh37: 16:53635456-53635456
GRCh38: 16:53601544-53601544
35 RPGRIP1L NM_015272.5(RPGRIP1L):c.*262G>A SNV Uncertain significance 319643 rs563237818 GRCh37: 16:53635726-53635726
GRCh38: 16:53601814-53601814
36 RPGRIP1L NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) SNV Uncertain significance 260608 rs138724933 GRCh37: 16:53644956-53644956
GRCh38: 16:53611044-53611044
37 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1207G>A SNV Uncertain significance 319629 rs561880798 GRCh37: 16:53634781-53634781
GRCh38: 16:53600869-53600869
38 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1627G>A SNV Uncertain significance 319625 rs188203905 GRCh37: 16:53634361-53634361
GRCh38: 16:53600449-53600449
39 RPGRIP1L NM_015272.5(RPGRIP1L):c.-7-10T>C SNV Uncertain significance 319671 rs886052099 GRCh37: 16:53734652-53734652
GRCh38: 16:53700740-53700740
40 RPGRIP1L NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) SNV Uncertain significance 241026 rs142317242 GRCh37: 16:53652991-53652991
GRCh38: 16:53619079-53619079
41 RPGRIP1L NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) SNV Uncertain significance 319649 rs886052092 GRCh37: 16:53652975-53652975
GRCh38: 16:53619063-53619063
42 RPGRIP1L NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) SNV Uncertain significance 235333 rs148230131 GRCh37: 16:53686863-53686863
GRCh38: 16:53652951-53652951
43 RPGRIP1L NM_015272.5(RPGRIP1L):c.*588A>G SNV Uncertain significance 884275 GRCh37: 16:53635400-53635400
GRCh38: 16:53601488-53601488
44 RPGRIP1L NM_015272.5(RPGRIP1L):c.*133T>A SNV Uncertain significance 884339 GRCh37: 16:53635855-53635855
GRCh38: 16:53601943-53601943
45 RPGRIP1L NM_015272.5(RPGRIP1L):c.*125G>T SNV Uncertain significance 884340 GRCh37: 16:53635863-53635863
GRCh38: 16:53601951-53601951
46 RPGRIP1L NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) SNV Uncertain significance 884392 GRCh37: 16:53639404-53639404
GRCh38: 16:53605492-53605492
47 RPGRIP1L NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) SNV Uncertain significance 884393 GRCh37: 16:53639459-53639459
GRCh38: 16:53605547-53605547
48 RPGRIP1L NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) SNV Uncertain significance 700570 rs574430009 GRCh37: 16:53672272-53672272
GRCh38: 16:53638360-53638360
49 RPGRIP1L NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) SNV Uncertain significance 659168 rs147734438 GRCh37: 16:53679821-53679821
GRCh38: 16:53645909-53645909
50 RPGRIP1L NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) SNV Uncertain significance 530906 rs141201084 GRCh37: 16:53686895-53686895
GRCh38: 16:53652983-53652983

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

72
# Symbol AA change Variation ID SNP ID
1 RPGRIP1L p.Arg1236Cys VAR_066482 rs151332923

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.29 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L NPHP4
2 cytosol GO:0005829 10.26 TMEM216 TCTN1 RPGRIP1L NPHP4 NPHP1 MKS1
3 cytoskeleton GO:0005856 10.1 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L NPHP4
4 MKS complex GO:0036038 10.03 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TCTN2
5 centrosome GO:0005813 9.98 TMEM67 RPGRIP1L NPHP4 MKS1 CEP290 B9D2
6 cilium GO:0005929 9.97 TMEM67 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107
7 ciliary basal body GO:0036064 9.88 RPGRIP1L NPHP4 MKS1 CEP290 B9D2 B9D1
8 ciliary transition zone GO:0035869 9.83 TMEM67 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107
9 microtubule organizing center GO:0005815 9.81 RPGRIP1L NPHP4 MKS1 CEP290
10 photoreceptor connecting cilium GO:0032391 9.77 TMEM237 RPGRIP1L NPHP4 NPHP1 CEP290
11 ciliary membrane GO:0060170 9.76 TMEM67 TMEM231 TMEM17 TCTN2
12 bicellular tight junction GO:0005923 9.67 RPGRIP1L NPHP4 NPHP1
13 cell projection GO:0042995 9.53 TMEM67 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.93 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L NPHP4
2 in utero embryonic development GO:0001701 9.84 TMEM231 TCTN1 RPGRIP1L B9D1
3 non-motile cilium assembly GO:1905515 9.8 TMEM216 TMEM17 TMEM107 RPGRIP1L MKS1 CC2D2A
4 cilium assembly GO:0060271 9.8 TMEM67 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107
5 smoothened signaling pathway GO:0007224 9.77 TMEM231 TMEM17 TCTN2 CC2D2A B9D1
6 determination of left/right symmetry GO:0007368 9.76 TMEM107 RPGRIP1L MKS1 CC2D2A
7 camera-type eye development GO:0043010 9.73 TMEM231 RPGRIP1L CC2D2A B9D1
8 embryonic digit morphogenesis GO:0042733 9.71 TMEM231 TMEM107 MKS1 B9D1
9 regulation of smoothened signaling pathway GO:0008589 9.65 TCTN1 RPGRIP1L MKS1
10 protein localization to ciliary transition zone GO:1904491 9.65 TMEM107 TCTN2 TCTN1 NPHP4 CC2D2A
11 telencephalon development GO:0021537 9.59 TCTN1 RPGRIP1L
12 vasculature development GO:0001944 9.58 TMEM231 B9D1
13 motile cilium assembly GO:0044458 9.58 MKS1 CC2D2A
14 head development GO:0060322 9.57 RPGRIP1L MKS1
15 embryonic brain development GO:1990403 9.56 MKS1 CC2D2A
16 neuroepithelial cell differentiation GO:0060563 9.55 TMEM231 B9D1
17 positive regulation of bicellular tight junction assembly GO:1903348 9.52 NPHP4 NPHP1
18 neural tube patterning GO:0021532 9.51 TMEM107 RPGRIP1L
19 visual behavior GO:0007632 9.49 NPHP4 NPHP1
20 cell projection organization GO:0030030 9.47 TMEM67 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107

Sources for Meckel Syndrome, Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
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57 OMIM® (Updated 05-Apr-2021)
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69 Tocris
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