MKS7
MCID: MCK030
MIFTS: 43

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 is 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 all 49)
# Related Disease Score Top Affiliating Genes
1 encephalocele 29.8 B9D2 B9D1
2 polycystic kidney disease 4 with or without polycystic liver disease 28.6 TMEM231 TMEM216 NPHP3 B9D1
3 meckel syndrome, type 1 27.5 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
4 dandy-walker syndrome 10.5
5 oligohydramnios 10.3
6 renal dysplasia 10.3
7 congenital hepatic fibrosis 10.2
8 renal-hepatic-pancreatic dysplasia 1 10.1 NPHP3-ACAD11 NPHP3
9 renal-hepatic-pancreatic dysplasia 10.1 NPHP3-ACAD11 NPHP3
10 fibrosis of extraocular muscles, congenital, 1 10.1
11 polycystic kidney disease 10.1
12 hydrocephalus 10.1
13 cholestasis 10.1
14 occipital encephalocele 10.1
15 nephronophthisis 3 9.9 NPHP3-ACAD11 NPHP3
16 nephronophthisis 11 9.9 TMEM216 NPHP3
17 orofaciodigital syndrome 9.7 TMEM231 TMEM216
18 nephronophthisis 9 9.7 TMEM216 NPHP3 B9D2
19 joubert syndrome 3 9.7 TMEM216 NPHP3 B9D2
20 orofaciodigital syndrome iv 9.6 TMEM231 TMEM216
21 joubert syndrome 16 9.6 TMEM231 TMEM216
22 nephronophthisis 1 9.6 NPHP3 B9D2 B9D1
23 joubert syndrome 20 9.6 TMEM237 TMEM231
24 cystic kidney disease 9.6 TMEM216 NPHP3 B9D1
25 hydrolethalus syndrome 1 9.5 TMEM216 B9D1
26 joubert syndrome 7 9.5 TMEM216 B9D2 B9D1
27 visceral heterotaxy 9.5 TMEM216 NPHP3 B9D1
28 joubert syndrome 5 9.5 TMEM216 B9D2 B9D1
29 joubert syndrome 24 9.5 TMEM231 B9D1
30 joubert syndrome 4 9.4 TMEM237 TMEM216 NPHP3 B9D2
31 arima syndrome 9.3 TMEM237 TMEM231 TMEM216
32 nephronophthisis 2 9.3 TMEM216 NPHP3 B9D2 B9D1
33 leber congenital amaurosis 9.3 TMEM216 NPHP3-ACAD11 NPHP3
34 primary ciliary dyskinesia 9.2 TMEM216 NPHP3 B9D2 B9D1
35 meckel syndrome, type 6 8.9 TMEM231 TMEM216 B9D2 B9D1
36 orofaciodigital syndrome vi 8.9 TMEM237 TMEM231 TMEM216 B9D1
37 kartagener syndrome 8.9 TMEM237 TMEM216 NPHP3 B9D2 B9D1
38 senior-loken syndrome 1 8.7 TMEM231 TMEM216 NPHP3 B9D2 B9D1
39 joubert syndrome 14 8.6 TMEM237 TMEM231 TMEM216 B9D2 B9D1
40 meckel syndrome, type 2 8.6 TMEM237 TMEM231 TMEM216 B9D2 B9D1
41 meckel syndrome, type 5 8.6 TMEM237 TMEM231 TMEM216 B9D2 B9D1
42 meckel syndrome, type 8 8.3 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
43 meckel syndrome, type 4 8.3 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
44 meckel syndrome, type 3 8.3 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
45 joubert syndrome 1 8.3 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
46 coloboma of macula 8.3 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
47 fundus dystrophy 8.3 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
48 bardet-biedl syndrome 8.3 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
49 nephronophthisis 8.0 TMEM237 TMEM231 TMEM216 NPHP3-ACAD11 NPHP3 B9D2

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 oligohydramnios 58 31 very rare (1%) Frequent (79-30%) HP:0001562
6 abnormality of the pancreas 58 31 frequent (33%) Frequent (79-30%) HP:0001732
7 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
8 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
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 patent ductus arteriosus 31 very rare (1%) HP:0001643
15 atrial septal defect 31 very rare (1%) HP:0001631
16 biliary cirrhosis 31 very rare (1%) HP:0002613
17 high forehead 31 very rare (1%) HP:0000348
18 pancreatic cysts 31 very rare (1%) HP:0001737
19 cholestasis 31 very rare (1%) HP:0001396
20 large fontanelles 31 very rare (1%) HP:0000239
21 postaxial foot polydactyly 31 very rare (1%) HP:0001830
22 situs inversus totalis 31 very rare (1%) HP:0001696
23 aortic valve stenosis 31 very rare (1%) HP:0001650
24 hepatosplenomegaly 31 very rare (1%) HP:0001433
25 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
26 multiple glomerular cysts 31 very rare (1%) HP:0100611
27 choroid plexus cyst 31 very rare (1%) HP:0002190
28 right ventricular hypertrophy 31 very rare (1%) HP:0001667
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

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
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, Eye, Bone

Publications for Meckel Syndrome, Type 7

Articles related to Meckel Syndrome, Type 7:

(show all 19)
# 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. 56 6
18371931 2008
2
Goldston syndrome: report of a case. 61 56
11693790 2001
3
Goldston syndrome reconsidered. 61 56
8357569 1993
4
The Goldston syndrome: report of a case. 61 56
2664743 1989
5
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 56
21110233 2011
6
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 6
20007846 2010
7
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 56
15666242 2005
8
Meckel syndrome and Dandy Walker malformation. 56
8867663 1996
9
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? 56
1785635 1991
10
Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? 56
1867280 1991
11
Dandy-Walker malformation in the Meckel syndrome. 56
2063927 1991
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
Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis. 61
31218169 2019
16
Goldston syndrome. 61
21453625 2011
17
Goldston syndrome in a fetus: case report and literature review. 61
20704482 2010
18
Dandy-Walker malformation associated with polycystic kidneys: Goldston syndrome revisited. 61
16931025 2006
19
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. 61
11807905 2002

Variations for Meckel Syndrome, Type 7

ClinVar genetic disease variations for Meckel Syndrome, Type 7:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3 NM_153240.5(NPHP3):c.2694-2_2694-1deldeletion Pathogenic 220868 rs751527253 3:132408108-132408109 3:132689264-132689265
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.3619C>T (p.Arg1207Ter)SNV Pathogenic 693989 rs780020801 3:132402320-132402320 3:132683476-132683476
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.1082C>G (p.Ser361Cys)SNV Conflicting interpretations of pathogenicity 450392 rs146250226 3:132432006-132432006 3:132713162-132713162
7 NPHP3 NM_153240.5(NPHP3):c.944A>T (p.Asp315Val)SNV Uncertain significance 497874 rs149565564 3:132433942-132433942 3:132715098-132715098
8 NPHP3 NM_153240.5(NPHP3):c.65C>T (p.Ala22Val)SNV Uncertain significance 500896 rs369447363 3:132441135-132441135 3:132722291-132722291
9 NPHP3 NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)SNV Uncertain significance 291194 rs190548695 3:132400851-132400851 3:132682007-132682007
10 NPHP3 NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)SNV Uncertain significance 343382 rs144989330 3:132407920-132407920 3:132689076-132689076

Expression for Meckel Syndrome, Type 7

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

Pathways for Meckel Syndrome, Type 7

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 TMEM216 NPHP3 B9D2 B9D1

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 9.73 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
2 cilium GO:0005929 9.55 TMEM237 TMEM231 TMEM216 NPHP3 B9D2
3 ciliary basal body GO:0036064 9.32 B9D2 B9D1
4 MKS complex GO:0036038 9.26 TMEM231 TMEM216 B9D2 B9D1
5 ciliary transition zone GO:0035869 9.02 TMEM237 TMEM231 TMEM216 B9D2 B9D1

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

# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.46 TMEM231 B9D1
2 camera-type eye development GO:0043010 9.43 TMEM231 B9D1
3 regulation of protein localization GO:0032880 9.4 TMEM231 B9D1
4 embryonic digit morphogenesis GO:0042733 9.37 TMEM231 B9D1
5 cell projection organization GO:0030030 9.35 TMEM237 TMEM231 TMEM216 B9D2 B9D1
6 ciliary basal body-plasma membrane docking GO:0097711 9.33 TMEM216 B9D2 B9D1
7 vasculature development GO:0001944 9.32 TMEM231 B9D1
8 neuroepithelial cell differentiation GO:0060563 9.26 TMEM231 B9D1
9 cilium assembly GO:0060271 9.1 TMEM237 TMEM231 TMEM216 NPHP3 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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