MKS6
MCID: MCK012
MIFTS: 47

Meckel Syndrome, Type 6 (MKS6)

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 6

MalaCards integrated aliases for Meckel Syndrome, Type 6:

Name: Meckel Syndrome, Type 6 57 39 70
Meckel Syndrome 6 57 12 72 13 15
Mks6 57 12 72
Meckel Syndrome Type 6 29 6
Meckel-Gruber Syndrome, Type 6 12

Characteristics:

OMIM®:

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

Miscellaneous:
lethal in utero or perinatal lethal


HPO:

31
meckel syndrome, type 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070120
OMIM® 57 612284
OMIM Phenotypic Series 57 PS249000
ICD10 32 Q61.9
MedGen 41 C2676790
UMLS 70 C2676790

Summaries for Meckel Syndrome, Type 6

UniProtKB/Swiss-Prot : 72 Meckel syndrome 6: 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 6, also known as meckel syndrome 6, is related to retinal degeneration and orofaciodigital syndrome v. An important gene associated with Meckel Syndrome, Type 6 is CC2D2A (Coiled-Coil And C2 Domain Containing 2A), 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 liver, and related phenotypes are occipital encephalocele and renal cyst

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32.

More information from OMIM: 612284 PS249000

Related Diseases for Meckel Syndrome, Type 6

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 retinal degeneration 29.9 TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1 CEP290
2 orofaciodigital syndrome v 10.4 WDPCP TMEM231
3 rhyns syndrome 10.3 TMEM67 TMEM231
4 cone-rod dystrophy 13 10.3 RPGRIP1L NPHP4
5 leber congenital amaurosis 6 10.3 MKS1 CEP290
6 orofaciodigital syndrome iv 10.3 TMEM231 TMEM216
7 orofaciodigital syndrome i 10.3 TMEM17 CEP290
8 renal dysplasia, cystic 10.3 NPHP3 CEP290
9 bardet-biedl syndrome 18 10.3 WDPCP MKS1
10 retinitis pigmentosa 54 10.3 TMEM231 CC2D2A
11 oligohydramnios 10.3 TMEM67 MKS1 CC2D2A
12 retinal aplasia 10.3 NPHP4 NPHP1 CEP290
13 physical disorder 10.3 TMEM67 MKS1 CEP290
14 bardet-biedl syndrome 16 10.3 WDPCP MKS1
15 infantile nephronophthisis 10.3 NPHP4 NPHP3
16 bardet-biedl syndrome 13 10.3 WDPCP MKS1 CEP290 CC2D2B
17 polycystic kidney disease 2 with or without polycystic liver disease 10.3 TMEM67 NPHP4 MKS1
18 caroli disease 10.3 NPHP3 NPHP1
19 pathologic nystagmus 10.2 TMEM67 MKS1 CEP290
20 alstrom syndrome 10.2 RPGRIP1L NPHP3 CEP290
21 leber congenital amaurosis 3 10.2 NPHP4 CEP290
22 bardet-biedl syndrome 6 10.2 WDPCP RPGRIP1L MKS1 CEP290
23 bardet-biedl syndrome 11 10.2 WDPCP RPGRIP1L MKS1 CEP290
24 ellis-van creveld syndrome 10.2 TMEM216 RPGRIP1L CEP290
25 bardet-biedl syndrome 19 10.2 WDPCP MKS1
26 nephronophthisis 13 10.2 NPHP4 NPHP3 NPHP1
27 nephronophthisis 18 10.2 NPHP4 NPHP3 NPHP1
28 nephronophthisis 15 10.2 NPHP4 NPHP3 NPHP1
29 polydactyly 10.2 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
30 congenital hepatic fibrosis 10.2 TMEM67 RPGRIP1L CC2D2A AHI1
31 renal-hepatic-pancreatic dysplasia 10.2 NPHP4 NPHP3 NPHP1 CEP290
32 polycystic kidney disease 10.2 TMEM67 NPHP3 MKS1 CEP290 CC2D2A
33 short-rib thoracic dysplasia 6 with or without polydactyly 10.2 TMEM67 TMEM216 TCTN2 TCTN1
34 nephronophthisis 4 10.1 NPHP4 NPHP1
35 choroid disease 10.1 DCAF8 CEP290
36 johanson-blizzard syndrome 10.1 TMEM231 TMEM216 RPGRIP1L CEP290 CC2D2A
37 acrocallosal syndrome 10.1 TMEM216 RPGRIP1L NPHP1 AHI1
38 encephalocele 10.1 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
39 joubert syndrome 20 10.1 TMEM237 TMEM231 TMEM17 NPHP4
40 ciliopathy 10.0 TMEM67 TMEM231 RPGRIP1L NPHP4 CEP290 CC2D2A
41 apraxia 10.0 TMEM67 TCTN2 NPHP1 CEP290 CC2D2A AHI1
42 cogan syndrome 10.0 RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A AHI1
43 neural tube defects 10.0 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
44 tubulointerstitial kidney disease, autosomal dominant, 1 10.0 NPHP4 NPHP1
45 nephronophthisis 16 10.0 TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1 CEP290
46 bardet-biedl syndrome 14 10.0 WDPCP TMEM67 TMEM216 RPGRIP1L MKS1 CEP290
47 arima syndrome 10.0 TMEM237 TMEM231 TMEM216 NPHP4 CEP290 CC2D2A
48 joubert syndrome 15 10.0 TMEM237 TMEM231 RPGRIP1L NPHP4 NPHP1 CC2D2A
49 joubert syndrome 24 9.9 TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
50 joubert syndrome 9 9.9 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 6:



Diseases related to Meckel Syndrome, Type 6

Symptoms & Phenotypes for Meckel Syndrome, Type 6

Human phenotypes related to Meckel Syndrome, Type 6:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 occipital encephalocele 31 obligate (100%) HP:0002085
2 renal cyst 31 obligate (100%) HP:0000107
3 talipes equinovarus 31 hallmark (90%) HP:0001762
4 hand polydactyly 31 hallmark (90%) HP:0001161
5 cystic liver disease 31 hallmark (90%) HP:0006706
6 hydrocephalus 31 occasional (7.5%) HP:0000238
7 cleft palate 31 occasional (7.5%) HP:0000175
8 cleft upper lip 31 occasional (7.5%) HP:0000204
9 anencephaly 31 occasional (7.5%) HP:0002323
10 abnormal internal genitalia 31 occasional (7.5%) HP:0000812
11 hepatic fibrosis 31 HP:0001395
12 postaxial hand polydactyly 31 HP:0001162
13 pulmonary hypoplasia 31 HP:0002089
14 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate

Skeletal Feet:
club feet
polydactyly, postaxial

Neurologic Central Nervous System:
hydrocephalus (in some patients)
encephalocele, occipital
anencephaly (in some patients)

Abdomen Liver:
hepatic fibrosis
bile duct proliferation
ductal plate malformations

Skeletal Hands:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia

Clinical features from OMIM®:

612284 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Meckel Syndrome, Type 6:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 B9D1 B9D2 CC2D2A CEP290 DCAF8 MKS1
2 cellular MP:0005384 10.36 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
3 growth/size/body region MP:0005378 10.25 AHI1 B9D1 B9D2 CC2D2A CEP290 DCAF8
4 embryo MP:0005380 10.2 B9D1 B9D2 CC2D2A MKS1 NPHP3 RPGRIP1L
5 craniofacial MP:0005382 10.19 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3
6 nervous system MP:0003631 10.16 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
7 mortality/aging MP:0010768 10.13 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
8 limbs/digits/tail MP:0005371 10.1 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN1
9 digestive/alimentary MP:0005381 10.08 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
10 renal/urinary system MP:0005367 9.93 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
11 liver/biliary system MP:0005370 9.91 B9D1 B9D2 CEP290 DCAF8 MKS1 RPGRIP1L
12 respiratory system MP:0005388 9.5 B9D2 CC2D2A CEP290 DCAF8 MKS1 RPGRIP1L
13 vision/eye MP:0005391 9.44 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1

Drugs & Therapeutics for Meckel Syndrome, Type 6

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 6

Genetic Tests for Meckel Syndrome, Type 6

Genetic tests related to Meckel Syndrome, Type 6:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 6 29 CC2D2A

Anatomical Context for Meckel Syndrome, Type 6

MalaCards organs/tissues related to Meckel Syndrome, Type 6:

40
Kidney, Liver

Publications for Meckel Syndrome, Type 6

Articles related to Meckel Syndrome, Type 6:

# Title Authors PMID Year
1
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 6 57 61
18513680 2008
2
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 6
21866095 2011
3
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. 57
20671153 2010
4
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 6
19777577 2009
5
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone. 61
30133325 2019
6
An alternative model for the role of RP2 protein in flagellum assembly in the African trypanosome. 61
24257747 2014
7
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment. 61
22983010 2012

Variations for Meckel Syndrome, Type 6

ClinVar genetic disease variations for Meckel Syndrome, Type 6:

6 (show top 50) (show all 164)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCTN2 NM_024809.5(TCTN2):c.1506-2A>G SNV Pathogenic 31076 rs374349989 GRCh37: 12:124184249-124184249
GRCh38: 12:123699702-123699702
2 CC2D2A NM_001080522.2(CC2D2A):c.1762C>T (p.Gln588Ter) SNV Pathogenic 742 rs116358011 GRCh37: 4:15538697-15538697
GRCh38: 4:15537074-15537074
3 CC2D2A NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) SNV Pathogenic 217618 rs781252161 GRCh37: 4:15534907-15534907
GRCh38: 4:15533284-15533284
4 CC2D2A NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) SNV Pathogenic 210609 rs764719093 GRCh37: 4:15558984-15558984
GRCh38: 4:15557361-15557361
5 CC2D2A NM_001080522.2(CC2D2A):c.4179+1del Deletion Pathogenic 56312 rs386833760 GRCh37: 4:15589552-15589552
GRCh38: 4:15587929-15587929
6 CC2D2A NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) Deletion Pathogenic 56301 rs386833749 GRCh37: 4:15565046-15565046
GRCh38: 4:15563423-15563423
7 CEP290 NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) SNV Pathogenic 982093 GRCh37: 12:88477722-88477722
GRCh38: 12:88083945-88083945
8 CEP290 NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) SNV Pathogenic 1345 rs267606719 GRCh37: 12:88471004-88471004
GRCh38: 12:88077227-88077227
9 CC2D2A NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) SNV Pathogenic 217602 rs370880399 GRCh37: 4:15565018-15565018
GRCh38: 4:15563395-15563395
10 CC2D2A NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) SNV Pathogenic 56315 rs386833763 GRCh37: 4:15511840-15511840
GRCh38: 4:15510217-15510217
11 CC2D2A NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter) SNV Pathogenic 982064 GRCh37: 4:15559029-15559029
GRCh38: 4:15557406-15557406
12 CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) SNV Pathogenic 1333 rs137852832 GRCh37: 12:88471040-88471040
GRCh38: 12:88077263-88077263
13 CC2D2A NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) SNV Pathogenic/Likely pathogenic 917927 GRCh37: 4:15601186-15601186
GRCh38: 4:15599563-15599563
14 CC2D2A NM_001080522.2(CC2D2A):c.3399-3C>A SNV Likely pathogenic 56305 rs386833753 GRCh37: 4:15570913-15570913
GRCh38: 4:15569290-15569290
15 CC2D2A NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg) SNV Likely pathogenic 982095 GRCh37: 4:15601210-15601210
GRCh38: 4:15599587-15599587
16 CC2D2A NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) Deletion Likely pathogenic 973861 GRCh37: 4:15569024-15569033
GRCh38: 4:15567401-15567410
17 CC2D2A NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) SNV Likely pathogenic 747 rs386833750 GRCh37: 4:15565108-15565108
GRCh38: 4:15563485-15563485
18 CC2D2A NM_001080522.2(CC2D2A):c.3289delG Deletion Likely pathogenic 56303 rs386833751 GRCh37: 4:15569299-15569299
GRCh38: 4:15567676-15567676
19 CC2D2A NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) Duplication Likely pathogenic 56309 rs386833757 GRCh37: 4:15581590-15581591
GRCh38: 4:15579967-15579968
20 CC2D2A NM_001378615.1(CC2D2A):c.676_678GAA[3] (p.Glu229del) Microsatellite Likely pathogenic 56316 rs386833764 GRCh37: 4:15513014-15513016
GRCh38: 4:15511382-15511384
21 CC2D2A NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs) Deletion Likely pathogenic 587631 rs1560184664 GRCh37: 4:15565084-15565085
GRCh38: 4:15563461-15563462
22 CC2D2A NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys) SNV Likely pathogenic 217597 rs779823379 GRCh37: 4:15581669-15581669
GRCh38: 4:15580046-15580046
23 CC2D2A NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) SNV Likely pathogenic 56300 rs386833748 GRCh37: 4:15559074-15559074
GRCh38: 4:15557451-15557451
24 CC2D2A NM_001080522.2(CC2D2A):c.3145C>G (p.Arg1049Gly) SNV Likely pathogenic 56302 rs386833750 GRCh37: 4:15565108-15565108
GRCh38: 4:15563485-15563485
25 CC2D2A NM_001080522.2(CC2D2A):c.3544T>C (p.Trp1182Arg) SNV Likely pathogenic 56307 rs386833755 GRCh37: 4:15572069-15572069
GRCh38: 4:15570446-15570446
26 CC2D2A NM_001080522.2(CC2D2A):c.3584del (p.Phe1195fs) Deletion Likely pathogenic 56308 rs386833756 GRCh37: 4:15572107-15572107
GRCh38: 4:15570484-15570484
27 CC2D2A NM_001080522.2(CC2D2A):c.3893T>A (p.Val1298Asp) SNV Likely pathogenic 56310 rs386833758 GRCh37: 4:15581712-15581712
GRCh38: 4:15580089-15580089
28 CC2D2A NM_001080522.2(CC2D2A):c.4496+2T>A SNV Likely pathogenic 56314 rs386833762 GRCh37: 4:15599090-15599090
GRCh38: 4:15597467-15597467
29 CC2D2A NM_001378615.1(CC2D2A):c.2339-2A>C SNV Likely pathogenic 917928 GRCh37: 4:15554779-15554779
GRCh38: 4:15553156-15553156
30 CC2D2A NM_001080522.2(CC2D2A):c.4555T>G (p.Trp1519Gly) SNV Likely pathogenic 690363 rs1577406415 GRCh37: 4:15601210-15601210
GRCh38: 4:15599587-15599587
31 CC2D2A NM_001080522.2(CC2D2A):c.4088G>T (p.Gly1363Val) SNV Likely pathogenic 690364 rs762683334 GRCh37: 4:15589461-15589461
GRCh38: 4:15587838-15587838
32 CC2D2A NM_001080522.2(CC2D2A):c.3522_3523insTG (p.His1175fs) Insertion Likely pathogenic 56306 rs386833754 GRCh37: 4:15572047-15572048
GRCh38: 4:15570424-15570425
33 CC2D2A NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys) SNV Likely pathogenic 982094 GRCh37: 4:15587796-15587796
GRCh38: 4:15586173-15586173
34 TCTN2 NM_024809.5(TCTN2):c.1286dup (p.Asn429fs) Duplication Likely pathogenic 982096 GRCh37: 12:124179816-124179817
GRCh38: 12:123695269-123695270
35 TCTN2 NM_024809.5(TCTN2):c.862_863del (p.Val288fs) Deletion Likely pathogenic 982097 GRCh37: 12:124172694-124172695
GRCh38: 12:123688147-123688148
36 CC2D2A NM_001080522.2(CC2D2A):c.834del (p.Leu279fs) Deletion Likely pathogenic 56317 rs386833765 GRCh37: 4:15516445-15516445
GRCh38: 4:15514822-15514822
37 CC2D2A NM_001080522.2(CC2D2A):c.2486+1G>C SNV Likely pathogenic 56299 rs386833747 GRCh37: 4:15554929-15554929
GRCh38: 4:15553306-15553306
38 CC2D2A NM_001080522.2(CC2D2A):c.1537T>A (p.Trp513Arg) SNV Likely pathogenic 56298 rs386833746 GRCh37: 4:15534886-15534886
GRCh38: 4:15533263-15533263
39 CC2D2A NM_001080522.2(CC2D2A):c.1339del (p.Ala447fs) Deletion Likely pathogenic 56297 rs386833745 GRCh37: 4:15529258-15529258
GRCh38: 4:15527635-15527635
40 CC2D2A NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) SNV Likely pathogenic 56304 rs386833752 GRCh37: 4:15569352-15569352
GRCh38: 4:15567729-15567729
41 CC2D2A NM_001080522.2(CC2D2A):c.3975+4_3975+7del Microsatellite Likely pathogenic 217617 rs386833759 GRCh37: 4:15581794-15581797
GRCh38: 4:15580171-15580174
42 CC2D2A NM_001080522.2(CC2D2A):c.4442A>C (p.Glu1481Ala) SNV Uncertain significance 347904 rs886059185 GRCh37: 4:15599034-15599034
GRCh38: 4:15597411-15597411
43 CC2D2A NM_001080522.2(CC2D2A):c.3399-15T>C SNV Uncertain significance 347898 rs181612746 GRCh37: 4:15570901-15570901
GRCh38: 4:15569278-15569278
44 CC2D2A NM_001080522.2(CC2D2A):c.3499G>A (p.Asp1167Asn) SNV Uncertain significance 347899 rs371998498 GRCh37: 4:15572024-15572024
GRCh38: 4:15570401-15570401
45 CC2D2A NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) SNV Uncertain significance 282741 rs367841700 GRCh37: 4:15602994-15602994
GRCh38: 4:15601371-15601371
46 CC2D2A NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) SNV Uncertain significance 198452 rs202150325 GRCh37: 4:15504463-15504463
GRCh38: 4:15502840-15502840
47 CC2D2A NM_020785.2(CC2D2A):c.-212T>C SNV Uncertain significance 347750 rs886059135 GRCh37: 4:15471522-15471522
GRCh38: 4:15469898-15469898
48 CC2D2A NM_001080522.2(CC2D2A):c.541-5G>A SNV Uncertain significance 347754 rs369022150 GRCh37: 4:15512865-15512865
GRCh38: 4:15511242-15511242
49 CC2D2A NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) SNV Uncertain significance 238277 rs753770061 GRCh37: 4:15569344-15569344
GRCh38: 4:15567721-15567721
50 CC2D2A NM_001080522.2(CC2D2A):c.1401A>C (p.Pro467=) SNV Uncertain significance 347756 rs886059136 GRCh37: 4:15530284-15530284
GRCh38: 4:15528661-15528661

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 6:

72
# Symbol AA change Variation ID SNP ID
1 CC2D2A p.Thr1114Met VAR_062293 rs386833752

Expression for Meckel Syndrome, Type 6

Search GEO for disease gene expression data for Meckel Syndrome, Type 6.

Pathways for Meckel Syndrome, Type 6

GO Terms for Meckel Syndrome, Type 6

Cellular components related to Meckel Syndrome, Type 6 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.35 WDPCP TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
2 cytosol GO:0005829 10.32 TMEM216 TCTN1 RPGRIP1L NPHP4 NPHP3 NPHP1
3 cytoskeleton GO:0005856 10.17 WDPCP TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
4 centrosome GO:0005813 10.03 TMEM67 RPGRIP1L NPHP4 MKS1 CEP290 B9D2
5 MKS complex GO:0036038 10.03 TMEM67 TMEM231 TMEM216 TMEM17 TCTN2 TCTN1
6 ciliary transition zone GO:0035869 10 TMEM67 TMEM237 TMEM231 TMEM216 TMEM17 TCTN2
7 ciliary basal body GO:0036064 9.91 RPGRIP1L NPHP4 MKS1 CEP290 B9D2 B9D1
8 microtubule organizing center GO:0005815 9.85 RPGRIP1L NPHP4 MKS1 CEP290
9 cilium GO:0005929 9.83 WDPCP TMEM67 TMEM237 TMEM231 TMEM216 TMEM17
10 cell-cell junction GO:0005911 9.8 RPGRIP1L NPHP4 NPHP1 AHI1
11 photoreceptor connecting cilium GO:0032391 9.8 TMEM237 RPGRIP1L NPHP4 NPHP1 CEP290
12 ciliary membrane GO:0060170 9.76 TMEM67 TMEM231 TMEM17 TCTN2
13 centriole GO:0005814 9.71 MKS1 CEP290 AHI1
14 bicellular tight junction GO:0005923 9.7 RPGRIP1L NPHP4 NPHP1
15 cell projection GO:0042995 9.58 WDPCP TMEM67 TMEM237 TMEM231 TMEM216 TMEM17

Biological processes related to Meckel Syndrome, Type 6 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.97 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L NPHP4
2 in utero embryonic development GO:0001701 9.86 TMEM231 TCTN1 RPGRIP1L B9D1
3 cell projection organization GO:0030030 9.83 WDPCP TMEM67 TMEM237 TMEM231 TMEM216 TMEM17
4 kidney development GO:0001822 9.8 WDPCP RPGRIP1L NPHP3 CC2D2A
5 camera-type eye development GO:0043010 9.8 WDPCP TMEM231 RPGRIP1L CC2D2A B9D1
6 non-motile cilium assembly GO:1905515 9.77 TMEM216 TMEM17 RPGRIP1L MKS1 CC2D2A
7 determination of left/right symmetry GO:0007368 9.76 RPGRIP1L NPHP3 MKS1 CC2D2A
8 regulation of protein localization GO:0032880 9.74 WDPCP TMEM231 B9D1
9 embryonic digit morphogenesis GO:0042733 9.73 WDPCP TMEM231 MKS1 B9D1
10 smoothened signaling pathway GO:0007224 9.73 WDPCP TMEM231 TMEM17 TCTN2 CC2D2A B9D1
11 regulation of smoothened signaling pathway GO:0008589 9.65 TCTN1 RPGRIP1L MKS1
12 telencephalon development GO:0021537 9.62 TCTN1 RPGRIP1L
13 protein localization to ciliary transition zone GO:1904491 9.62 TCTN2 TCTN1 NPHP4 CC2D2A
14 vasculature development GO:0001944 9.61 TMEM231 B9D1
15 motile cilium assembly GO:0044458 9.61 MKS1 CC2D2A
16 hindbrain development GO:0030902 9.6 CEP290 AHI1
17 head development GO:0060322 9.59 RPGRIP1L MKS1
18 embryonic brain development GO:1990403 9.58 MKS1 CC2D2A
19 photoreceptor cell outer segment organization GO:0035845 9.58 NPHP4 AHI1
20 neuroepithelial cell differentiation GO:0060563 9.55 TMEM231 B9D1
21 positive regulation of bicellular tight junction assembly GO:1903348 9.54 NPHP4 NPHP1
22 cilium assembly GO:0060271 9.53 WDPCP TMEM67 TMEM237 TMEM231 TMEM216 TMEM17
23 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.52 NPHP3 MKS1
24 visual behavior GO:0007632 9.51 NPHP4 NPHP1

Sources for Meckel Syndrome, Type 6

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
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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