MKS7
MCID: MCK030
MIFTS: 47

Meckel Syndrome, Type 7 (MKS7)

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 7

MalaCards integrated aliases for Meckel Syndrome, Type 7:

Name: Meckel Syndrome, Type 7 56 39
Meckel Syndrome 7 56 12 52 73 29 13 15
Meckel Syndrome Type 7 52 58 29 6
Goldston Syndrome 56 52 58
Mks7 56 12 73
Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome 52 58
Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst 43 71
Nphp3-Related Meckel-Like Syndrome 52 58
Meckel-Like Syndrome Type 1 52 58
Renal-Hepatic-Pancreatic Dysplasia with Dandy-Walker Cyst 56
Dandy-Walker Cyst with Renal-Hepatic-Pancreatic Dysplasia 52
Meckel-Gruber Syndrome, Type 7 12

Characteristics:

Orphanet epidemiological data:

58
nphp3-related meckel-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or perinatal lethal
two families each with two affected children have been reported (last curated april 2015)


HPO:

31
meckel syndrome, type 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Meckel Syndrome, Type 7

OMIM : 56 This autosomal recessive disorder is designated Meckel syndrome type 7 based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). According to these criteria, polydactyly is a variable feature. Herriot et al. (1991) and Al-Gazali et al. (1996) concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). (267010)

MalaCards based summary : Meckel Syndrome, Type 7, also known as meckel syndrome 7, is related to encephalocele and polycystic kidney disease 4 with or without polycystic liver disease. An important gene associated with Meckel Syndrome, Type 7 is NPHP3 (Nephrocystin 3), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and pancreas, and related phenotypes are dandy-walker malformation and multicystic kidney dysplasia

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3032 Definition NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly . Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 Meckel syndrome 7: 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 7

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 encephalocele 29.0 CC2D2A B9D2 B9D1
2 polycystic kidney disease 4 with or without polycystic liver disease 28.8 TMEM216 NPHP3 CC2D2A B9D1
3 meckel syndrome, type 1 28.1 TMEM216 NPHP3 CC2D2A B9D2 B9D1
4 dandy-walker syndrome 10.5
5 oligohydramnios 10.3
6 renal dysplasia 10.3
7 congenital hepatic fibrosis 10.2
8 fibrosis of extraocular muscles, congenital, 1 10.1
9 polycystic kidney disease 10.1
10 hydrocephalus 10.1
11 cholestasis 10.1
12 occipital encephalocele 10.1
13 arima syndrome 9.9 TMEM216 CC2D2A
14 nephronophthisis 7 9.9 NPHP3 CC2D2A
15 renal-hepatic-pancreatic dysplasia 1 9.8 NPHP3-AS1 NPHP3-ACAD11 NPHP3
16 renal-hepatic-pancreatic dysplasia 9.8 NPHP3-AS1 NPHP3-ACAD11 NPHP3
17 joubert syndrome 6 9.8 TMEM216 CC2D2A
18 joubert syndrome 10 9.8 TMEM216 CC2D2A
19 joubert syndrome 9 9.8 TMEM216 CC2D2A
20 joubert syndrome 13 9.8 TMEM216 CC2D2A
21 nephronophthisis 3 9.8 NPHP3-AS1 NPHP3-ACAD11 NPHP3
22 nephronophthisis 11 9.7 TMEM216 NPHP3 CC2D2A
23 joubert syndrome 8 9.7 TMEM216 NPHP3 CC2D2A
24 bardet-biedl syndrome 14 9.6 TMEM216 NPHP3 CC2D2A
25 nephronophthisis 9 9.6 TMEM216 NPHP3 B9D2
26 joubert syndrome 7 9.5 TMEM216 CC2D2A B9D2
27 joubert syndrome 2 9.5 TMEM216 CC2D2A B9D2
28 johanson-blizzard syndrome 9.5 TMEM216 CC2D2A
29 nephronophthisis 14 9.5 CC2D2A B9D1
30 joubert syndrome 4 9.4 TMEM216 CC2D2A B9D2
31 nephronophthisis 1 9.4 NPHP3 B9D2 B9D1
32 joubert syndrome 14 9.3 TMEM216 B9D2 B9D1
33 orofaciodigital syndrome vi 9.3 TMEM216 CC2D2A B9D1
34 cystic kidney disease 9.1 TMEM216 NPHP3 CC2D2A B9D1
35 kartagener syndrome 9.0 TMEM216 NPHP3 CC2D2A B9D1
36 joubert syndrome 5 8.9 TMEM216 CC2D2A B9D2 B9D1
37 meckel syndrome, type 2 8.9 TMEM216 CC2D2A B9D2 B9D1
38 meckel syndrome, type 5 8.9 TMEM216 CC2D2A B9D2 B9D1
39 short-rib thoracic dysplasia 1 with or without polydactyly 8.9 TMEM216 CC2D2A B9D2 B9D1
40 meckel syndrome, type 8 8.7 TMEM216 NPHP3 CC2D2A B9D2 B9D1
41 meckel syndrome, type 4 8.7 TMEM216 NPHP3 CC2D2A B9D2 B9D1
42 meckel syndrome, type 6 8.7 TMEM216 NPHP3 CC2D2A B9D2 B9D1
43 meckel syndrome, type 3 8.7 TMEM216 NPHP3 CC2D2A B9D2 B9D1
44 nephronophthisis 2 8.6 TMEM216 NPHP3 CC2D2A B9D2 B9D1
45 joubert syndrome 3 8.6 TMEM216 NPHP3 CC2D2A B9D2 B9D1
46 coach syndrome 8.6 TMEM216 NPHP3 CC2D2A B9D2 B9D1
47 senior-loken syndrome 1 8.6 TMEM216 NPHP3 CC2D2A B9D2 B9D1
48 visceral heterotaxy 8.6 TMEM216 NPHP3 CC2D2A B9D2 B9D1
49 coloboma of macula 8.6 TMEM216 NPHP3 CC2D2A B9D2 B9D1
50 joubert syndrome 1 8.6 TMEM216 NPHP3 CC2D2A B9D2 B9D1

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 7:



Diseases related to Meckel Syndrome, Type 7

Symptoms & Phenotypes for Meckel Syndrome, Type 7

Human phenotypes related to Meckel Syndrome, Type 7:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dandy-walker malformation 58 31 very rare (1%) Very frequent (99-80%) HP:0001305
2 multicystic kidney dysplasia 58 31 very rare (1%) Very frequent (99-80%) HP:0000003
3 renal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000110
4 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
5 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
6 oligohydramnios 58 31 very rare (1%) Frequent (79-30%) HP:0001562
7 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
8 abnormality of the pancreas 58 31 frequent (33%) Frequent (79-30%) HP:0001732
9 abnormal liver parenchyma morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030146
10 abnormal biliary tract morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012440
11 inguinal hernia 31 very rare (1%) HP:0000023
12 hypertonia 31 very rare (1%) HP:0001276
13 portal hypertension 31 very rare (1%) HP:0001409
14 atrial septal defect 31 very rare (1%) HP:0001631
15 biliary cirrhosis 31 very rare (1%) HP:0002613
16 patent ductus arteriosus 31 very rare (1%) HP:0001643
17 high forehead 31 very rare (1%) HP:0000348
18 large fontanelles 31 very rare (1%) HP:0000239
19 cholestasis 31 very rare (1%) HP:0001396
20 situs inversus totalis 31 very rare (1%) HP:0001696
21 postaxial foot polydactyly 31 very rare (1%) HP:0001830
22 pancreatic cysts 31 very rare (1%) HP:0001737
23 aortic valve stenosis 31 very rare (1%) HP:0001650
24 hepatosplenomegaly 31 very rare (1%) HP:0001433
25 choroid plexus cyst 31 very rare (1%) HP:0002190
26 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
27 right ventricular hypertrophy 31 very rare (1%) HP:0001667
28 multiple glomerular cysts 31 very rare (1%) HP:0100611
29 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
bile duct proliferation
ductal plate malformations

Neurologic Central Nervous System:
dandy-walker malformation (in 1 patient)

Genitourinary Kidneys:
cystic dysplasia

Clinical features from OMIM:

267010

MGI Mouse Phenotypes related to Meckel Syndrome, Type 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 B9D1 B9D2 CC2D2A NPHP3
2 renal/urinary system MP:0005367 8.92 B9D1 B9D2 CC2D2A NPHP3

Drugs & Therapeutics for Meckel Syndrome, Type 7

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 7

Cochrane evidence based reviews: renal hepatic pancreatic dysplasia dandy walker cyst

Genetic Tests for Meckel Syndrome, Type 7

Genetic tests related to Meckel Syndrome, Type 7:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 7 29 NPHP3
2 Meckel Syndrome 7 29

Anatomical Context for Meckel Syndrome, Type 7

MalaCards organs/tissues related to Meckel Syndrome, Type 7:

40
Kidney, Liver, Pancreas, Brain

Publications for Meckel Syndrome, Type 7

Articles related to Meckel Syndrome, Type 7:

(show all 15)
# Title Authors PMID Year
1
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 6 56
18371931 2008
2
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 56
21110233 2011
3
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 6
20007846 2010
4
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 56
15666242 2005
5
Goldston syndrome: report of a case. 56
11693790 2001
6
Meckel syndrome and Dandy Walker malformation. 56
8867663 1996
7
Goldston syndrome reconsidered. 56
8357569 1993
8
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? 56
1785635 1991
9
Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? 56
1867280 1991
10
Dandy-Walker malformation in the Meckel syndrome. 56
2063927 1991
11
The Goldston syndrome: report of a case. 56
2664743 1989
12
Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases. 56
4036877 1985
13
The Meckel syndrome: clinicopathological findings in 67 patients. 56
6486167 1984
14
NEONATAL POLYCYSTIC KIDNEY WITH BRAIN DEFECT. 56
14077166 1963
15
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. 61
32341812 2020

Variations for Meckel Syndrome, Type 7

ClinVar genetic disease variations for Meckel Syndrome, Type 7:

6 (show top 50) (show all 95) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3 NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter)SNV Pathogenic 693989 rs780020801 3:132402320-132402320 3:132683476-132683476
2 NPHP3 NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)SNV Pathogenic 2636 rs119456962 3:132419192-132419192 3:132700348-132700348
3 NPHP3 NM_153240.5(NPHP3):c.2694-2_2694-1deldeletion Pathogenic 220868 rs751527253 3:132408108-132408109 3:132689264-132689265
4 NPHP3 NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)SNV Pathogenic/Likely pathogenic 216136 rs182135982 3:132418832-132418832 3:132699988-132699988
5 NPHP3 NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)SNV Likely pathogenic 693990 rs781180515 3:132411631-132411631 3:132692787-132692787
6 NPHP3 NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)SNV Conflicting interpretations of pathogenicity 697112 3:132415614-132415614 3:132696770-132696770
7 NPHP3 NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys)SNV Conflicting interpretations of pathogenicity 450392 rs146250226 3:132432006-132432006 3:132713162-132713162
8 NPHP3 NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)SNV Conflicting interpretations of pathogenicity 96508 rs142021049 3:132427063-132427063 3:132708219-132708219
9 NPHP3 NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)SNV Conflicting interpretations of pathogenicity 96509 rs145643112 3:132441046-132441046 3:132722202-132722202
10 NPHP3 NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)SNV Conflicting interpretations of pathogenicity 167379 rs141477666 3:132427031-132427031 3:132708187-132708187
11 NPHP3 NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)SNV Conflicting interpretations of pathogenicity 167378 rs34391943 3:132403418-132403418 3:132684574-132684574
12 NPHP3 NM_153240.5(NPHP3):c.*926C>TSNV Conflicting interpretations of pathogenicity 902586 3:132399828-132399828 3:132680984-132680984
13 NPHP3 NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)SNV Conflicting interpretations of pathogenicity 592218 rs371505908 3:132403464-132403464 3:132684620-132684620
14 NPHP3 NM_153240.5(NPHP3):c.2089-9C>TSNV Conflicting interpretations of pathogenicity 211684 rs141397228 3:132415666-132415666 3:132696822-132696822
15 NPHP3 NM_153240.5(NPHP3):c.105G>A (p.Lys35=)SNV Conflicting interpretations of pathogenicity 193504 rs377060857 3:132441095-132441095 3:132722251-132722251
16 NPHP3 NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)SNV Conflicting interpretations of pathogenicity 262709 rs146759786 3:132401642-132401642 3:132682798-132682798
17 NPHP3 NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)SNV Conflicting interpretations of pathogenicity 262704 rs11915053 3:132405181-132405181 3:132686337-132686337
18 NPHP3 NM_153240.5(NPHP3):c.1887+6G>ASNV Conflicting interpretations of pathogenicity 262693 rs79113972 3:132418756-132418756 3:132699912-132699912
19 NPHP3 NM_153240.5(NPHP3):c.670+13C>TSNV Conflicting interpretations of pathogenicity 262716 rs202228115 3:132437825-132437825 3:132718981-132718981
20 NPHP3 NM_153240.5(NPHP3):c.189G>C (p.Gly63=)SNV Conflicting interpretations of pathogenicity 262694 rs750280281 3:132441011-132441011 3:132722167-132722167
21 NPHP3 NM_153240.5(NPHP3):c.408G>A (p.Thr136=)SNV Conflicting interpretations of pathogenicity 284322 rs141410951 3:132438660-132438660 3:132719816-132719816
22 NPHP3 NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)SNV Conflicting interpretations of pathogenicity 289555 rs116174472 3:132408032-132408032 3:132689188-132689188
23 NPHP3 NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)SNV Conflicting interpretations of pathogenicity 343386 rs139730838 3:132418796-132418796 3:132699952-132699952
24 NPHP3 NM_153240.5(NPHP3):c.*759G>ASNV Conflicting interpretations of pathogenicity 343361 rs116338839 3:132399995-132399995 3:132681151-132681151
25 NPHP3 NM_153240.5(NPHP3):c.*1020T>CSNV Conflicting interpretations of pathogenicity 343357 rs186828918 3:132399734-132399734 3:132680890-132680890
26 NPHP3 NM_153240.5(NPHP3):c.*1176G>ASNV Conflicting interpretations of pathogenicity 343353 rs183658380 3:132399578-132399578 3:132680734-132680734
27 NPHP3 NM_153240.5(NPHP3):c.*815G>ASNV Conflicting interpretations of pathogenicity 343358 rs141464909 3:132399939-132399939 3:132681095-132681095
28 NPHP3 NM_153240.5(NPHP3):c.2884-4C>GSNV Conflicting interpretations of pathogenicity 343381 rs185913426 3:132407739-132407739 3:132688895-132688895
29 NPHP3 NM_153240.5(NPHP3):c.520-10C>GSNV Conflicting interpretations of pathogenicity 379760 rs200144727 3:132437998-132437998 3:132719154-132719154
30 NPHP3 NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)SNV Uncertain significance 219480 rs146054765 3:132401596-132401596 3:132682752-132682752
31 NPHP3 NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)SNV Uncertain significance 343382 rs144989330 3:132407920-132407920 3:132689076-132689076
32 NPHP3 NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly)SNV Uncertain significance 343393 rs886058005 3:132440940-132440940 3:132722096-132722096
33 NPHP3 NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala)SNV Uncertain significance 343374 rs766281273 3:132400872-132400872 3:132682028-132682028
34 NPHP3 NM_153240.5(NPHP3):c.3570+4A>GSNV Uncertain significance 343375 rs374989123 3:132403394-132403394 3:132684550-132684550
35 NPHP3 NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg)SNV Uncertain significance 343376 rs772079066 3:132403405-132403405 3:132684561-132684561
36 NPHP3 NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=)SNV Uncertain significance 343379 rs372990521 3:132407610-132407610 3:132688766-132688766
37 NPHP3 NM_153240.5(NPHP3):c.*519C>TSNV Uncertain significance 343368 rs3891704 3:132400235-132400235 3:132681391-132681391
38 NPHP3 NM_153240.5(NPHP3):c.*692C>TSNV Uncertain significance 343362 rs886057997 3:132400062-132400062 3:132681218-132681218
39 NPHP3 NM_153240.5(NPHP3):c.*139T>GSNV Uncertain significance 343371 rs886058001 3:132400615-132400615 3:132681771-132681771
40 NPHP3 NM_153240.5(NPHP3):c.*46A>GSNV Uncertain significance 343373 rs530016526 3:132400708-132400708 3:132681864-132681864
41 NPHP3 NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg)SNV Uncertain significance 343383 rs751790371 3:132408018-132408018 3:132689174-132689174
42 NPHP3 NM_153240.5(NPHP3):c.2571-12C>GSNV Uncertain significance 343384 rs886058003 3:132409506-132409506 3:132690662-132690662
43 NPHP3 NM_153240.5(NPHP3):c.2169G>A (p.Ala723=)SNV Uncertain significance 343385 rs563403703 3:132415577-132415577 3:132696733-132696733
44 NPHP3 NM_153240.5(NPHP3):c.384C>G (p.Ala128=)SNV Uncertain significance 343391 rs201425936 3:132440816-132440816 3:132721972-132721972
45 NPHP3 NM_153240.5(NPHP3):c.*1098C>TSNV Uncertain significance 343355 rs886057995 3:132399656-132399656 3:132680812-132680812
46 NPHP3 NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu)SNV Uncertain significance 343388 rs576089202 3:132420337-132420337 3:132701493-132701493
47 NPHP3 NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg)SNV Uncertain significance 343389 rs138982161 3:132427048-132427048 3:132708204-132708204
48 NPHP3 NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe)SNV Uncertain significance 343392 rs200233813 3:132440868-132440868 3:132722024-132722024
49 NPHP3 NM_153240.5(NPHP3):c.208C>T (p.Leu70=)SNV Uncertain significance 343394 rs765533675 3:132440992-132440992 3:132722148-132722148
50 NPHP3 NM_153240.5(NPHP3):c.*1078T>GSNV Uncertain significance 343356 rs886057996 3:132399676-132399676 3:132680832-132680832

Expression for Meckel Syndrome, Type 7

Search GEO for disease gene expression data for Meckel Syndrome, Type 7.

Pathways for Meckel Syndrome, Type 7

GO Terms for Meckel Syndrome, Type 7

Cellular components related to Meckel Syndrome, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.65 TMEM216 NPHP3 CC2D2A B9D2 B9D1
2 cytoskeleton GO:0005856 9.62 TMEM216 CC2D2A B9D2 B9D1
3 cilium GO:0005929 9.46 TMEM216 NPHP3 CC2D2A B9D2
4 ciliary transition zone GO:0035869 9.26 TMEM216 CC2D2A B9D2 B9D1
5 MKS complex GO:0036038 8.92 TMEM216 CC2D2A B9D2 B9D1

Biological processes related to Meckel Syndrome, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.46 TMEM216 CC2D2A B9D2 B9D1
2 determination of left/right symmetry GO:0007368 9.4 NPHP3 CC2D2A
3 smoothened signaling pathway GO:0007224 9.37 CC2D2A B9D1
4 camera-type eye development GO:0043010 9.32 CC2D2A B9D1
5 non-motile cilium assembly GO:1905515 9.26 TMEM216 CC2D2A
6 ciliary basal body-plasma membrane docking GO:0097711 9.26 TMEM216 CC2D2A B9D2 B9D1
7 cilium assembly GO:0060271 9.02 TMEM216 NPHP3 CC2D2A B9D2 B9D1

Sources for Meckel Syndrome, Type 7

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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