MKS4
MCID: MCK033
MIFTS: 47

Meckel Syndrome, Type 4 (MKS4)

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 4

MalaCards integrated aliases for Meckel Syndrome, Type 4:

Name: Meckel Syndrome, Type 4 56 29 6 39 71
Meckel Syndrome 4 56 12 73 13 15
Mks4 56 12 73
Meckel-Gruber Syndrome, Type 4 56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or perinatal lethal


HPO:

31
meckel syndrome, type 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 4

OMIM : 56 Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). (611134)

MalaCards based summary : Meckel Syndrome, Type 4, also known as meckel syndrome 4, is related to senior-loken syndrome 6 and leber congenital amaurosis 6. An important gene associated with Meckel Syndrome, Type 4 is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include bone and kidney, and related phenotypes are bowing of the long bones and hydrocephalus

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.

UniProtKB/Swiss-Prot : 73 Meckel syndrome 4: 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.

Related Diseases for Meckel Syndrome, Type 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 6 10.4 CEP290 C12orf29
2 leber congenital amaurosis 6 10.3 MKS1 CEP290
3 bardet-biedl syndrome 13 10.3 MKS1 CEP290
4 leber congenital amaurosis 10 10.3 CEP290 C12orf29
5 renal dysplasia, cystic 10.3 NPHP3 CEP290
6 bardet-biedl syndrome 11 10.2 MKS1 CEP290
7 bardet-biedl syndrome 6 10.2 RPGRIP1L MKS1 CEP290
8 congenital hepatic fibrosis 10.2 TMEM67 RPGRIP1L CC2D2A
9 pathologic nystagmus 10.2 TMEM67 MKS1 CEP290
10 bardet-biedl syndrome 8 10.2 MKS1 CEP290
11 cogan syndrome 10.2 NPHP1 CEP290
12 cerebellar hypoplasia 10.1 TMEM67 RPGRIP1L CC2D2A
13 retinal aplasia 10.1 NPHP1 CEP290 C12orf29
14 juvenile nephronophthisis 10.1 NPHP3 NPHP1
15 ciliopathy 10.1 TMEM67 TMEM231 RPGRIP1L
16 bardet-biedl syndrome 3 10.1 MKS1 CEP290
17 nephronophthisis 18 10.0 NPHP3 NPHP1
18 short-rib thoracic dysplasia 6 with or without polydactyly 10.0 TMEM67 TMEM216 TCTN2
19 nephronophthisis 15 10.0 NPHP3 NPHP1
20 nephronophthisis 13 10.0 NPHP3 NPHP1 CEP290
21 nephronophthisis 12 10.0 NPHP3 NPHP1 CEP290
22 joubert syndrome 20 10.0 TMEM237 TMEM231
23 renal-hepatic-pancreatic dysplasia 10.0 NPHP3 NPHP1 CEP290
24 oligohydramnios 9.9 TMEM67 TMEM231 MKS1 CC2D2A
25 polycystic kidney disease 2 with or without polycystic liver disease 9.9 TMEM67 MKS1 ARL13B
26 asphyxiating thoracic dystrophy 9.9 RPGRIP1L CEP290 ARL13B
27 joubert syndrome 15 9.8 TMEM237 RPGRIP1L NPHP1
28 alstrom syndrome 9.8 RPGRIP1L NPHP3 NPHP1 CEP290
29 nephronophthisis 1 9.8 NPHP3 NPHP1 B9D2 B9D1
30 physical disorder 9.8 TMEM67 MKS1 CEP290 ARL13B
31 ellis-van creveld syndrome 9.7 TMEM216 RPGRIP1L CEP290 ARL13B
32 oculomotor apraxia 9.7 NPHP1 ARL13B
33 meckel syndrome, type 7 9.7 TMEM216 NPHP3 CC2D2A B9D2 B9D1
34 nephronophthisis 19 9.6 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290
35 encephalocele 9.6 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
36 retinitis pigmentosa 2 9.6 CEP290 ARL13B
37 retinal degeneration 9.6 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290
38 nephronophthisis 16 9.5 TMEM67 RPGRIP1L NPHP3 NPHP1 MKS1 CEP290
39 orofaciodigital syndrome 9.5 TMEM67 TMEM231 TMEM216 NPHP1 MKS1 CEP290
40 joubert syndrome 6 9.4 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
41 apraxia 9.4 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CEP290
42 nephronophthisis 11 9.3 TMEM67 TMEM216 RPGRIP1L NPHP3 NPHP1 CEP290
43 bardet-biedl syndrome 14 9.3 TMEM67 TMEM216 RPGRIP1L NPHP3 MKS1 CEP290
44 johanson-blizzard syndrome 9.1 TMEM231 TMEM216 TMEM138 RPGRIP1L CEP290 CC2D2A
45 nephronophthisis 9 9.1 TMEM67 TMEM216 RPGRIP1L NPHP3 NPHP1 MKS1
46 nephronophthisis 14 9.1 TMEM67 TCTN2 RPGRIP1L NPHP1 MKS1 CEP290
47 joubert syndrome 14 9.1 TMEM80 TMEM237 TMEM231 TMEM216 B9D2 B9D1
48 arima syndrome 9.0 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
49 joubert syndrome 10 8.9 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CC2D2A
50 joubert syndrome 9 8.9 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 4:



Diseases related to Meckel Syndrome, Type 4

Symptoms & Phenotypes for Meckel Syndrome, Type 4

Human phenotypes related to Meckel Syndrome, Type 4:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 bowing of the long bones 31 occasional (7.5%) HP:0006487
2 hydrocephalus 31 occasional (7.5%) HP:0000238
3 microcephaly 31 occasional (7.5%) HP:0000252
4 cleft palate 31 occasional (7.5%) HP:0000175
5 microphthalmia 31 occasional (7.5%) HP:0000568
6 anencephaly 31 occasional (7.5%) HP:0002323
7 molar tooth sign on mri 31 occasional (7.5%) HP:0002419
8 intrauterine growth retardation 31 HP:0001511
9 atrial septal defect 31 HP:0001631
10 meningocele 31 HP:0002435
11 dandy-walker malformation 31 HP:0001305
12 ventricular septal defect 31 HP:0001629
13 postaxial hand polydactyly 31 HP:0001162
14 encephalocele 31 HP:0002084
15 hypoplasia of the corpus callosum 31 HP:0002079
16 renal cyst 31 HP:0000107
17 agenesis of cerebellar vermis 31 HP:0002335
18 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
intrauterine growth retardation

Head And Neck Mouth:
cleft palate (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Skeletal Feet:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia

Skeletal Limbs:
bowing of the long bones (rare)

Abdomen Liver:
bile duct proliferation
ductal plate malformations

Head And Neck Eyes:
microphthalmia (rare)

Skeletal Hands:
polydactyly, postaxial

Neurologic Central Nervous System:
dandy-walker malformation (in some patients)
hydrocephalus (in some patients)
cerebellar vermis hypoplasia (in some patients)
encephalocele, occipital
meningocele, occipital
more
Cardiovascular Heart:
septal defects (in some patients)

Clinical features from OMIM:

611134

MGI Mouse Phenotypes related to Meckel Syndrome, Type 4:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3
2 cellular MP:0005384 10.25 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
3 embryo MP:0005380 10.16 ARL13B B9D1 B9D2 CC2D2A MKS1 NPHP3
4 craniofacial MP:0005382 10.15 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3
5 growth/size/body region MP:0005378 10.13 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
6 nervous system MP:0003631 10.07 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
7 mortality/aging MP:0010768 10.06 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
8 digestive/alimentary MP:0005381 10.02 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
9 limbs/digits/tail MP:0005371 10.01 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
10 liver/biliary system MP:0005370 9.85 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
11 renal/urinary system MP:0005367 9.85 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
12 respiratory system MP:0005388 9.43 ARL13B B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
13 vision/eye MP:0005391 9.32 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1

Drugs & Therapeutics for Meckel Syndrome, Type 4

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 4

Genetic Tests for Meckel Syndrome, Type 4

Genetic tests related to Meckel Syndrome, Type 4:

# Genetic test Affiliating Genes
1 Meckel Syndrome, Type 4 29 CEP290

Anatomical Context for Meckel Syndrome, Type 4

MalaCards organs/tissues related to Meckel Syndrome, Type 4:

40
Bone, Kidney

Publications for Meckel Syndrome, Type 4

Articles related to Meckel Syndrome, Type 4:

(show all 11)
# Title Authors PMID Year
1
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 56 6 61
17564974 2007
2
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 6 56
17705300 2008
3
Clinical utility gene card for: Meckel syndrome. 6
21368913 2011
4
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 6
17345604 2007
5
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 56
17160906 2007
6
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome. 61
31840411 2020
7
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. 61
26982032 2016
8
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 61
23954617 2013
9
Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. 61
22699515 2012
10
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 61
20177705 2010
11
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 61
19777577 2009

Variations for Meckel Syndrome, Type 4

ClinVar genetic disease variations for Meckel Syndrome, Type 4:

6 (show top 50) (show all 168) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
2 CEP290 NM_025114.4(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
3 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
4 CEP290 CEP290, 4-BP DEL, 384TAGAdeletion Pathogenic 1340
5 CEP290 CEP290, EX3, T-A, +2SNV Pathogenic 1341
6 CEP290 NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)SNV Pathogenic 1342 rs137852835 12:88524101-88524101 12:88130324-88130324
7 CEP290 CEP290, 1-BP DEL, 5489Adeletion Pathogenic 1344
8 CEP290 NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs)short repeat Pathogenic 56729 rs386834148 12:88514913-88514914 12:88121136-88121137
9 CEP290 NM_025114.4(CEP290):c.1451del (p.Lys484fs)deletion Pathogenic 56730 rs386834149 12:88513962-88513962 12:88120185-88120185
10 CEP290 NM_025114.4(CEP290):c.1066-1G>ASNV Pathogenic 439474 rs965522059 12:88519147-88519147 12:88125370-88125370
11 CEP290 NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)SNV Pathogenic 56733 rs386834152 12:88508265-88508265 12:88114488-88114488
12 CEP290 NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)SNV Pathogenic 56734 rs386834153 12:88532930-88532930 12:88139153-88139153
13 CEP290 NM_025114.4(CEP290):c.384_387del (p.Asp128fs)deletion Pathogenic 56738 rs386834157 12:88530474-88530477 12:88136697-88136700
14 CEP290 NM_025114.4(CEP290):c.5493del (p.Ala1832fs)deletion Pathogenic 56739 rs386834158 12:88471567-88471567 12:88077790-88077790
15 CEP290 NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)SNV Pathogenic 530911 rs776645403 12:88519134-88519134 12:88125357-88125357
16 CEP290 NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter)duplication Pathogenic 545704 rs751361090 12:88465667-88465668 12:88071890-88071891
17 CEP290 NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)SNV Pathogenic 217636 rs575767207 12:88472889-88472889 12:88079112-88079112
18 CEP290 NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
19 CEP290 NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
20 CEP290 NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)SNV Pathogenic 217630 rs863225185 12:88524060-88524060 12:88130283-88130283
21 CEP290 NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)SNV Pathogenic/Likely pathogenic 523768 rs1170451277 12:88513984-88513984 12:88120207-88120207
22 CEP290 NM_025114.4(CEP290):c.1666dup (p.Ile556fs)duplication Pathogenic/Likely pathogenic 217623 rs727503855 12:88512304-88512305 12:88118527-88118528
23 CEP290 NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)SNV Likely pathogenic 212730 rs797044604 12:88480227-88480227 12:88086450-88086450
24 CEP290 NM_025114.4(CEP290):c.5850del (p.Phe1950fs)deletion Likely pathogenic 56740 rs386834159 12:88465563-88465563 12:88071786-88071786
25 CEP290 NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)deletion Likely pathogenic 56735 rs62640570 12:88487681-88487681 12:88093904-88093904
26 CEP290 NM_025114.4(CEP290):c.3446_3447del (p.Lys1149fs)deletion Likely pathogenic 56736 rs386834155 12:88486472-88486473 12:88092695-88092696
27 CEP290 NM_025114.4(CEP290):c.381_382delinsT (p.Lys127fs)indel Likely pathogenic 56737 rs386834156 12:88530479-88530480 12:88136702-88136703
28 CEP290 NM_025114.4(CEP290):c.180+2T>ASNV Likely pathogenic 56731 rs386834150 12:88534731-88534731 12:88140954-88140954
29 CEP290 NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs)deletion Likely pathogenic 56732 rs386834151 12:88508923-88508924 12:88115146-88115147
30 CEP290 NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)SNV Likely pathogenic 684612 12:88477631-88477631 12:88083854-88083854
31 CEP290 NM_025114.4(CEP290):c.2456A>T (p.Gln819Leu)SNV Likely pathogenic 684613 12:88502870-88502870 12:88109093-88109093
32 CEP290 NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs)short repeat Likely pathogenic 804466 12:88523588-88523589 12:88129811-88129812
33 CEP290 NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)SNV Conflicting interpretations of pathogenicity 695268 12:88505598-88505598 12:88111821-88111821
34 CEP290 NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)SNV Conflicting interpretations of pathogenicity 700299 12:88471639-88471639 12:88077862-88077862
35 CEP290 NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)SNV Conflicting interpretations of pathogenicity 701271 12:88474058-88474058 12:88080281-88080281
36 CEP290 NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)SNV Conflicting interpretations of pathogenicity 700166 12:88496733-88496733 12:88102956-88102956
37 CEP290 NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)SNV Conflicting interpretations of pathogenicity 697728 12:88500631-88500631 12:88106854-88106854
38 CEP290 NM_025114.4(CEP290):c.6358-5C>TSNV Conflicting interpretations of pathogenicity 739559 12:88454776-88454776 12:88060999-88060999
39 CEP290 NM_025114.4(CEP290):c.384T>C (p.Asp128=)SNV Conflicting interpretations of pathogenicity 461782 rs76267039 12:88530477-88530477 12:88136700-88136700
40 CEP290 NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)SNV Conflicting interpretations of pathogenicity 96172 rs183655276 12:88480233-88480233 12:88086456-88086456
41 CEP290 NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)SNV Conflicting interpretations of pathogenicity 136729 rs150138016 12:88484613-88484613 12:88090836-88090836
42 CEP290 NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)SNV Conflicting interpretations of pathogenicity 143156 rs77778467 12:88452656-88452656 12:88058879-88058879
43 CEP290 NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)SNV Conflicting interpretations of pathogenicity 166841 rs373913704 12:88533296-88533296 12:88139519-88139519
44 CEP290 NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)SNV Conflicting interpretations of pathogenicity 166838 rs188164241 12:88519133-88519133 12:88125356-88125356
45 CEP290 NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)SNV Conflicting interpretations of pathogenicity 166829 rs117852025 12:88454728-88454728 12:88060951-88060951
46 CEP290 NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)SNV Conflicting interpretations of pathogenicity 166834 rs73192874 12:88474130-88474130 12:88080353-88080353
47 CEP290 NM_025114.4(CEP290):c.1522+6C>TSNV Conflicting interpretations of pathogenicity 194563 rs148446546 12:88513885-88513885 12:88120108-88120108
48 CEP290 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)SNV Conflicting interpretations of pathogenicity 195989 rs182369459 12:88496626-88496626 12:88102849-88102849
49 CEP290 NM_025114.4(CEP290):c.251-11T>ASNV Conflicting interpretations of pathogenicity 235736 rs200666995 12:88532979-88532979 12:88139202-88139202
50 CEP290 NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)SNV Conflicting interpretations of pathogenicity 241587 rs572443869 12:88449443-88449443 12:88055666-88055666

Expression for Meckel Syndrome, Type 4

Search GEO for disease gene expression data for Meckel Syndrome, Type 4.

Pathways for Meckel Syndrome, Type 4

GO Terms for Meckel Syndrome, Type 4

Cellular components related to Meckel Syndrome, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.29 TMEM80 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138
2 cytoskeleton GO:0005856 10.02 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 MKS1
3 centrosome GO:0005813 9.93 TMEM67 RPGRIP1L MKS1 CEP290 B9D2 B9D1
4 MKS complex GO:0036038 9.91 TMEM67 TMEM231 TMEM216 TCTN2 MKS1 CEP290
5 ciliary transition zone GO:0035869 9.9 TMEM80 TMEM67 TMEM237 TMEM231 TMEM216 RPGRIP1L
6 ciliary basal body GO:0036064 9.8 RPGRIP1L MKS1 CEP290 B9D2 B9D1
7 cilium GO:0005929 9.8 TMEM80 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138
8 ciliary membrane GO:0060170 9.73 TMEM67 TMEM231 TCTN2 ARL13B
9 photoreceptor connecting cilium GO:0032391 9.67 TMEM237 RPGRIP1L NPHP1 CEP290
10 cell projection GO:0042995 9.53 TMEM80 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138

Biological processes related to Meckel Syndrome, Type 4 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 MKS1
2 determination of left/right symmetry GO:0007368 9.77 RPGRIP1L NPHP3 MKS1 CC2D2A ARL13B
3 non-motile cilium assembly GO:1905515 9.73 TMEM80 TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
4 cell projection organization GO:0030030 9.73 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
5 smoothened signaling pathway GO:0007224 9.72 TMEM231 TCTN2 CC2D2A B9D1 ARL13B
6 camera-type eye development GO:0043010 9.71 TMEM231 RPGRIP1L CC2D2A B9D1
7 embryonic digit morphogenesis GO:0042733 9.63 TMEM231 MKS1 B9D1
8 vasculature development GO:0001944 9.57 TMEM231 B9D1
9 motile cilium assembly GO:0044458 9.56 MKS1 CC2D2A
10 regulation of smoothened signaling pathway GO:0008589 9.55 RPGRIP1L MKS1
11 head development GO:0060322 9.54 RPGRIP1L MKS1
12 embryonic brain development GO:1990403 9.52 MKS1 CC2D2A
13 neuroepithelial cell differentiation GO:0060563 9.51 TMEM231 B9D1
14 neural tube patterning GO:0021532 9.49 RPGRIP1L ARL13B
15 protein localization to ciliary transition zone GO:1904491 9.48 TCTN2 CC2D2A
16 cilium assembly GO:0060271 9.47 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
17 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.43 NPHP3 MKS1

Sources for Meckel Syndrome, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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