MKS2
MCID: MCK031
MIFTS: 46

Meckel Syndrome, Type 2 (MKS2)

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 2

MalaCards integrated aliases for Meckel Syndrome, Type 2:

Name: Meckel Syndrome, Type 2 57 29 6 39 70
Meckel Syndrome 2 57 12 72 29 13 15
Mks2 57 12 20 72
Meckel-Gruber Syndrome, Type 2 57 12
Meckel Syndrome Type 2 20

Characteristics:

OMIM®:

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

Miscellaneous:
lethal in utero or perinatal lethal


HPO:

31
meckel syndrome, type 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070116
OMIM® 57 603194
OMIM Phenotypic Series 57 PS249000
ICD10 32 Q61.9
MedGen 41 C1864148
UMLS 70 C1864148

Summaries for Meckel Syndrome, Type 2

OMIM® : 57 Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000). (603194) (Updated 05-Apr-2021)

MalaCards based summary : Meckel Syndrome, Type 2, also known as meckel syndrome 2, is related to orofaciodigital syndrome iv and rhyns syndrome. An important gene associated with Meckel Syndrome, Type 2 is TMEM216 (Transmembrane Protein 216), 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 microphthalmia and dandy-walker malformation

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of TMEM216 on chromosome 11q12.2.

UniProtKB/Swiss-Prot : 72 Meckel syndrome 2: 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 2

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome iv 10.2 TMEM231 TMEM216
2 rhyns syndrome 10.2 TMEM67 TMEM231
3 leber congenital amaurosis 6 10.2 MKS1 CEP290
4 bardet-biedl syndrome 13 10.2 MKS1 CEP290
5 amyloidosis, finnish type 10.2 U2AF1 DCAF8
6 cone-rod dystrophy 13 10.1 RPGRIP1L NPHP4
7 choroid disease 10.1 DCAF8 CEP290
8 congenital hepatic fibrosis 10.1 TMEM67 RPGRIP1L CC2D2A
9 retinitis pigmentosa 54 10.1 TMEM231 CC2D2A
10 oligohydramnios 10.1 TMEM67 MKS1 CC2D2A
11 bardet-biedl syndrome 6 10.1 RPGRIP1L MKS1 CEP290
12 bardet-biedl syndrome 11 10.1 RPGRIP1L MKS1 CEP290
13 bardet-biedl syndrome 8 10.1 MKS1 CEP290
14 ellis-van creveld syndrome 10.1 TMEM216 RPGRIP1L CEP290
15 physical disorder 10.1 TMEM67 MKS1 CEP290
16 pathologic nystagmus 10.1 TMEM67 MKS1 CEP290
17 polycystic kidney disease 2 with or without polycystic liver disease 10.1 TMEM67 NPHP4 MKS1
18 leber congenital amaurosis 3 10.1 NPHP4 CEP290
19 acrocallosal syndrome 10.0 TMEM216 RPGRIP1L NPHP1
20 nephronophthisis 13 10.0 NPHP4 NPHP1
21 nephronophthisis 18 10.0 NPHP4 NPHP1
22 cone-rod dystrophy 16 10.0 TMEM231 B9D1
23 polycystic kidney disease 10.0 TMEM67 MKS1 CEP290 CC2D2A
24 nephronophthisis 15 10.0 NPHP4 NPHP1
25 short-rib thoracic dysplasia 6 with or without polydactyly 10.0 TMEM67 TMEM216 TCTN2
26 nephronophthisis 4 10.0 NPHP4 NPHP1
27 alstrom syndrome 10.0 RPGRIP1L CEP290
28 tubulointerstitial kidney disease, autosomal dominant, 1 9.9 NPHP4 NPHP1
29 polycystic liver disease 1 with or without kidney cysts 9.9 NPHP4 NPHP1
30 bardet-biedl syndrome 3 9.9 MKS1 CEP290
31 retinal aplasia 9.9 NPHP4 NPHP1 CEP290
32 renal-hepatic-pancreatic dysplasia 9.8 NPHP4 NPHP1 CEP290
33 polydactyly 9.8 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
34 joubert syndrome 20 9.8 TMEM237 TMEM231 NPHP4
35 orofaciodigital syndrome 9.8 TMEM67 TMEM231 TMEM216 DCAF8 CEP290
36 johanson-blizzard syndrome 9.7 TMEM231 TMEM216 RPGRIP1L CEP290 CC2D2A
37 joubert syndrome 9 9.7 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
38 juvenile nephronophthisis 9.7 TMEM67 NPHP4 NPHP1 CEP290
39 bardet-biedl syndrome 14 9.7 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
40 neural tube defects 9.7 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
41 nephronophthisis 1 9.7 NPHP4 NPHP1 MKS1 B9D2 B9D1
42 encephalocele 9.6 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
43 nephronophthisis 16 9.6 TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290
44 retinal degeneration 9.6 TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290
45 cogan syndrome 9.5 RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A
46 eye disease 9.5 U2AF1 NPHP4 NPHP1 CEP290
47 bardet-biedl syndrome 1 9.5 TMEM67 TMEM216 NPHP4 NPHP1 MKS1 CEP290
48 ciliopathy 9.5 TMEM67 TMEM231 RPGRIP1L NPHP4 CEP290 CC2D2A
49 apraxia 9.5 TMEM67 TCTN2 NPHP1 CEP290 CC2D2A
50 joubert syndrome 8 9.5 TMEM67 TMEM216 RPGRIP1L NPHP1 DCAF8 CEP290

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 2:



Diseases related to Meckel Syndrome, Type 2

Symptoms & Phenotypes for Meckel Syndrome, Type 2

Human phenotypes related to Meckel Syndrome, Type 2:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 occasional (7.5%) HP:0000568
2 dandy-walker malformation 31 occasional (7.5%) HP:0001305
3 bowing of the long bones 31 HP:0006487
4 cleft palate 31 HP:0000175
5 intrauterine growth retardation 31 HP:0001511
6 meningocele 31 HP:0002435
7 postaxial hand polydactyly 31 HP:0001162
8 encephalocele 31 HP:0002084
9 anencephaly 31 HP:0002323
10 renal cyst 31 HP:0000107
11 polydactyly 31 HP:0010442
12 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Limbs:
bowing of the long bones

Neurologic Central Nervous System:
meningocele
anencephaly
dandy-walker malformation (in some patients)
encephalocele, occipital

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

Skeletal Feet:
polydactyly, postaxial

Head And Neck Eyes:
microphthalmia (1 patient)

Growth Other:
intrauterine growth retardation

Abdomen Liver:
bile duct proliferation
ductal plate malformations

Skeletal Hands:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia

Genitourinary External Genitalia Male:
hypoplastic genitalia (1 patient)

Clinical features from OMIM®:

603194 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Meckel Syndrome, Type 2:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 B9D1 B9D2 CC2D2A CEP290 DCAF8 MKS1
2 cellular MP:0005384 10.18 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
3 craniofacial MP:0005382 10.06 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
4 nervous system MP:0003631 10.03 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
5 embryo MP:0005380 10.01 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
6 digestive/alimentary MP:0005381 9.98 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
7 limbs/digits/tail MP:0005371 9.97 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
8 liver/biliary system MP:0005370 9.87 B9D1 B9D2 CEP290 DCAF8 MKS1 RPGRIP1L
9 renal/urinary system MP:0005367 9.81 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
10 respiratory system MP:0005388 9.43 B9D2 CC2D2A CEP290 DCAF8 MKS1 RPGRIP1L
11 vision/eye MP:0005391 9.32 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1

Drugs & Therapeutics for Meckel Syndrome, Type 2

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 2

Genetic Tests for Meckel Syndrome, Type 2

Genetic tests related to Meckel Syndrome, Type 2:

# Genetic test Affiliating Genes
1 Meckel Syndrome, Type 2 29 TMEM216
2 Meckel Syndrome 2 29

Anatomical Context for Meckel Syndrome, Type 2

MalaCards organs/tissues related to Meckel Syndrome, Type 2:

40
Kidney

Publications for Meckel Syndrome, Type 2

Articles related to Meckel Syndrome, Type 2:

(show all 12)
# Title Authors PMID Year
1
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 6 57
20512146 2010
2
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 6
23351400 2012
3
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 6
22282472 2012
4
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 6
20036350 2010
5
A gene for Meckel syndrome maps to chromosome 11q13. 57
9758620 1998
6
Genetic heterogeneity of Meckel syndrome. 57
9429143 1997
7
Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. 57
9374403 1997
8
A 5.5-Mb high-resolution integrated map of distal 11q13. 57
9119371 1997
9
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. 57
7550354 1995
10
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. 57
1621756 1992
11
A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. 57
2230839 1990
12
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]. 61
22925539 2012

Variations for Meckel Syndrome, Type 2

ClinVar genetic disease variations for Meckel Syndrome, Type 2:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM216 NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) SNV Pathogenic 198 rs201108965 GRCh37: 11:61161437-61161437
GRCh38: 11:61393965-61393965
2 TMEM216 NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) SNV Pathogenic 197 rs201108965 GRCh37: 11:61161437-61161437
GRCh38: 11:61393965-61393965
3 TMEM216 NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) SNV Pathogenic/Likely pathogenic 56384 rs11230683 GRCh37: 11:61165269-61165269
GRCh38: 11:61397797-61397797
4 TMEM216 NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg) SNV Pathogenic/Likely pathogenic 199 rs386833831 GRCh37: 11:61165357-61165357
GRCh38: 11:61397885-61397885
5 TMEM216 NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala) SNV Pathogenic/Likely pathogenic 200 rs386833830 GRCh37: 11:61165246-61165246
GRCh38: 11:61397774-61397774
6 TMEM216 NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) SNV Likely pathogenic 56384 rs11230683 GRCh37: 11:61165269-61165269
GRCh38: 11:61397797-61397797
7 TMEM216 NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) Deletion Likely pathogenic 551831 rs1554972556 GRCh37: 11:61161380-61161384
GRCh38: 11:61393908-61393912
8 TMEM216 NM_001173990.3(TMEM216):c.35-2A>G SNV Likely pathogenic 371778 rs1057517528 GRCh37: 11:61160701-61160701
GRCh38: 11:61393229-61393229
9 TMEM216 NM_001173990.3(TMEM216):c.34+2T>C SNV Likely pathogenic 371740 rs1057517498 GRCh37: 11:61160139-61160139
GRCh38: 11:61392667-61392667
10 TMEM216 NM_001173990.3(TMEM216):c.222del (p.Phe76fs) Deletion Likely pathogenic 371759 rs1057517512 GRCh37: 11:61161441-61161441
GRCh38: 11:61393969-61393969
11 TMEM216 NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) Duplication Likely pathogenic 371710 rs767384710 GRCh37: 11:61161441-61161442
GRCh38: 11:61393969-61393970
12 TMEM216 NM_001173990.3(TMEM216):c.228del (p.Phe76fs) Deletion Likely pathogenic 371763 rs767384710 GRCh37: 11:61161442-61161442
GRCh38: 11:61393970-61393970
13 TMEM216 NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) SNV Likely pathogenic 554706 rs147267631 GRCh37: 11:61165352-61165352
GRCh38: 11:61397880-61397880
14 TMEM216 NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) SNV Likely pathogenic 197 rs201108965 GRCh37: 11:61161437-61161437
GRCh38: 11:61393965-61393965
15 TMEM216 NM_001173990.3(TMEM216):c.137-1G>A SNV Likely pathogenic 558218 rs1554972547 GRCh37: 11:61161355-61161355
GRCh38: 11:61393883-61393883
16 TMEM216 NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) Insertion Likely pathogenic 558417 rs1554972958 GRCh37: 11:61165332-61165333
GRCh38: 11:61397860-61397861
17 TMEM216 NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG Indel Uncertain significance 558461 rs1554973024 GRCh37: 11:61165732-61165734
GRCh38: 11:61398260-61398262
18 TMEM216 NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) SNV Uncertain significance 289981 rs762918371 GRCh37: 11:61161359-61161359
GRCh38: 11:61393887-61393887
19 TMEM216 NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) SNV Uncertain significance 598600 rs769285695 GRCh37: 11:61160725-61160725
GRCh38: 11:61393253-61393253
20 TMEM216 NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) SNV Uncertain significance 556222 rs1554972406 GRCh37: 11:61160105-61160105
GRCh38: 11:61392633-61392633
21 TMEM216 NM_001173990.3(TMEM216):c.432-10delinsAA Indel Uncertain significance 557306 rs1554973021 GRCh37: 11:61165732-61165732
GRCh38: 11:61398260-61398260
22 TMEM216 NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) Deletion Uncertain significance 557444 rs1554972400 GRCh37: 11:61160094-61160113
GRCh38: 11:61392622-61392641
23 TMEM216 NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) SNV Uncertain significance 557516 rs1554972406 GRCh37: 11:61160105-61160105
GRCh38: 11:61392633-61392633
24 TMEM216 NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) SNV Uncertain significance 557517 rs1287246452 GRCh37: 11:61160104-61160104
GRCh38: 11:61392632-61392632
25 TMEM216 NM_001173990.3(TMEM216):c.230-9dup Duplication Uncertain significance 557532 rs1554972934 GRCh37: 11:61165236-61165237
GRCh38: 11:61397764-61397765
26 TMEM216 NM_001173990.3(TMEM216):c.*303C>T SNV Uncertain significance 877371 GRCh37: 11:61166051-61166051
GRCh38: 11:61398579-61398579
27 TMEM216 NC_000011.10:g.61392347A>G SNV Uncertain significance 878303 GRCh37: 11:61159819-61159819
GRCh38: 11:61392347-61392347
28 TMEM216 NM_001173991.2(TMEM216):c.-264C>T SNV Uncertain significance 878304 GRCh37: 11:61159840-61159840
GRCh38: 11:61392368-61392368
29 TMEM216 NM_001173990.3(TMEM216):c.*377T>C SNV Uncertain significance 878392 GRCh37: 11:61166125-61166125
GRCh38: 11:61398653-61398653
30 TMEM216 NM_001173990.3(TMEM216):c.*393C>T SNV Uncertain significance 878393 GRCh37: 11:61166141-61166141
GRCh38: 11:61398669-61398669
31 TMEM216 NM_001173990.3(TMEM216):c.*525T>G SNV Uncertain significance 878394 GRCh37: 11:61166273-61166273
GRCh38: 11:61398801-61398801
32 TMEM216 NM_016499.5(TMEM216):c.-283G>A SNV Uncertain significance 878887 GRCh37: 11:61160018-61160018
GRCh38: 11:61392546-61392546
33 TMEM216 NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) SNV Uncertain significance 878935 GRCh37: 11:61165398-61165398
GRCh38: 11:61397926-61397926
34 TMEM216 NM_001173990.3(TMEM216):c.*548T>A SNV Uncertain significance 878986 GRCh37: 11:61166296-61166296
GRCh38: 11:61398824-61398824
35 TMEM216 NM_001173990.3(TMEM216):c.*190A>G SNV Uncertain significance 877370 GRCh37: 11:61165938-61165938
GRCh38: 11:61398466-61398466
36 TMEM216 NM_001173990.3(TMEM216):c.432-10delinsAC Indel Uncertain significance 552510 rs1554973021 GRCh37: 11:61165732-61165732
GRCh38: 11:61398260-61398260
37 TMEM216 NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) Duplication Uncertain significance 553034 rs1554972964 GRCh37: 11:61165353-61165354
GRCh38: 11:61397881-61397882
38 TMEM216 NM_001173990.3(TMEM216):c.*107G>T SNV Uncertain significance 305085 rs535550368 GRCh37: 11:61165855-61165855
GRCh38: 11:61398383-61398383
39 TMEM216 NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) SNV Uncertain significance 305079 rs752216307 GRCh37: 11:61165360-61165360
GRCh38: 11:61397888-61397888
40 TMEM216 NM_001173990.3(TMEM216):c.*372C>T SNV Uncertain significance 305088 rs565159932 GRCh37: 11:61166120-61166120
GRCh38: 11:61398648-61398648
41 TMEM216 NM_001173990.3(TMEM216):c.*21A>G SNV Uncertain significance 257594 rs111371929 GRCh37: 11:61165769-61165769
GRCh38: 11:61398297-61398297
42 TMEM216 NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) SNV Uncertain significance 305081 rs749351351 GRCh37: 11:61165436-61165436
GRCh38: 11:61397964-61397964
43 TMEM216 NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) SNV Uncertain significance 193189 rs569734777 GRCh37: 11:61160108-61160108
GRCh38: 11:61392636-61392636
44 TMEM216 NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) SNV Uncertain significance 305080 rs200289511 GRCh37: 11:61165374-61165374
GRCh38: 11:61397902-61397902
45 TMEM216 NM_001173990.3(TMEM216):c.*93T>C SNV Uncertain significance 305084 rs746881860 GRCh37: 11:61165841-61165841
GRCh38: 11:61398369-61398369
46 TMEM216 NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) SNV Uncertain significance 289981 rs762918371 GRCh37: 11:61161359-61161359
GRCh38: 11:61393887-61393887
47 TMEM216 NM_016499.5(TMEM216):c.-325A>C SNV Uncertain significance 305074 rs886048411 GRCh37: 11:61159976-61159976
GRCh38: 11:61392504-61392504
48 TMEM216 NM_001173990.3(TMEM216):c.-24C>T SNV Uncertain significance 305076 rs59493015 GRCh37: 11:61160080-61160080
GRCh38: 11:61392608-61392608
49 TMEM216 NM_001173990.3(TMEM216):c.*247C>T SNV Uncertain significance 305086 rs886048413 GRCh37: 11:61165995-61165995
GRCh38: 11:61398523-61398523
50 TMEM216 NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) SNV Uncertain significance 305078 rs201614099 GRCh37: 11:61165305-61165305
GRCh38: 11:61397833-61397833

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 2:

72
# Symbol AA change Variation ID SNP ID
1 TMEM216 p.Arg73His VAR_064029 rs201108965
2 TMEM216 p.Gly77Ala VAR_064030 rs386833830
3 TMEM216 p.Leu114Arg VAR_064031 rs386833831

Expression for Meckel Syndrome, Type 2

Search GEO for disease gene expression data for Meckel Syndrome, Type 2.

Pathways for Meckel Syndrome, Type 2

GO Terms for Meckel Syndrome, Type 2

Cellular components related to Meckel Syndrome, Type 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.27 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP4 NPHP1
2 cell projection GO:0042995 10.07 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
3 cytoskeleton GO:0005856 10.06 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP4 NPHP1
4 centrosome GO:0005813 9.98 TMEM67 RPGRIP1L NPHP4 MKS1 CEP290 B9D2
5 ciliary basal body GO:0036064 9.88 RPGRIP1L NPHP4 MKS1 CEP290 B9D2 B9D1
6 microtubule organizing center GO:0005815 9.81 RPGRIP1L NPHP4 MKS1 CEP290
7 MKS complex GO:0036038 9.81 TMEM67 TMEM231 TMEM216 TCTN2 MKS1 CEP290
8 photoreceptor connecting cilium GO:0032391 9.77 TMEM237 RPGRIP1L NPHP4 NPHP1 CEP290
9 cell-cell junction GO:0005911 9.7 RPGRIP1L NPHP4 NPHP1
10 cilium GO:0005929 9.7 TMEM67 TMEM237 TMEM231 TMEM216 RPGRIP1L NPHP4
11 bicellular tight junction GO:0005923 9.65 RPGRIP1L NPHP4 NPHP1
12 ciliary membrane GO:0060170 9.63 TMEM67 TMEM231 TCTN2
13 ciliary transition zone GO:0035869 9.4 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L

Biological processes related to Meckel Syndrome, Type 2 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 9.9 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP4 NPHP1
2 smoothened signaling pathway GO:0007224 9.71 TMEM231 TCTN2 CC2D2A B9D1
3 cilium assembly GO:0060271 9.7 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
4 determination of left/right symmetry GO:0007368 9.69 RPGRIP1L MKS1 CC2D2A
5 camera-type eye development GO:0043010 9.67 TMEM231 RPGRIP1L CC2D2A B9D1
6 embryonic digit morphogenesis GO:0042733 9.63 TMEM231 MKS1 B9D1
7 non-motile cilium assembly GO:1905515 9.62 TMEM216 RPGRIP1L MKS1 CC2D2A
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 9.49 TMEM231 B9D1
14 positive regulation of bicellular tight junction assembly GO:1903348 9.48 NPHP4 NPHP1
15 visual behavior GO:0007632 9.43 NPHP4 NPHP1
16 protein localization to ciliary transition zone GO:1904491 9.43 TCTN2 NPHP4 CC2D2A
17 cell projection organization GO:0030030 9.36 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 NPHP1

Sources for Meckel Syndrome, Type 2

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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