MKS7
MCID: MCK030
MIFTS: 38

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 57 40
Meckel Syndrome 7 57 12 53 74 29 13 15
Meckel Syndrome Type 7 53 59 29 6
Goldston Syndrome 57 53 59
Mks7 57 12 74
Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome 53 59
Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst 44 72
Nphp3-Related Meckel-Like Syndrome 53 59
Meckel-Like Syndrome Type 1 53 59
Renal-Hepatic-Pancreatic Dysplasia with Dandy-Walker Cyst 57
Dandy-Walker Cyst with Renal-Hepatic-Pancreatic Dysplasia 53
Meckel-Gruber Syndrome, Type 7 12

Characteristics:

Orphanet epidemiological data:

59
nphp3-related meckel-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
meckel syndrome, type 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070121
ICD10 via Orphanet 34 Q61.9
UMLS via Orphanet 73 C2673885
Orphanet 59 ORPHA3032
MedGen 42 C2673885
UMLS 72 C2673885

Summaries for Meckel Syndrome, Type 7

OMIM : 57 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 oligohydramnios and renal dysplasia. An important gene associated with Meckel Syndrome, Type 7 is NPHP3 (Nephrocystin 3). Affiliated tissues include kidney, liver and pancreas, and related phenotypes are multicystic kidney dysplasia and dandy-walker malformation

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3032DefinitionNPHP3-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 : 74 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

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 59 32 very rare (1%) Very frequent (99-80%) HP:0000003
2 dandy-walker malformation 59 32 very rare (1%) Very frequent (99-80%) HP:0001305
3 renal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000110
4 abnormality of the pancreas 59 32 frequent (33%) Frequent (79-30%) HP:0001732
5 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
6 intestinal malrotation 59 32 frequent (33%) Frequent (79-30%) HP:0002566
7 oligohydramnios 59 32 very rare (1%) Frequent (79-30%) HP:0001562
8 pulmonary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002089
9 abnormal liver parenchyma morphology 59 32 frequent (33%) Frequent (79-30%) HP:0030146
10 abnormal biliary tract morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012440
11 inguinal hernia 32 very rare (1%) HP:0000023
12 hypertonia 32 very rare (1%) HP:0001276
13 portal hypertension 32 very rare (1%) HP:0001409
14 patent ductus arteriosus 32 very rare (1%) HP:0001643
15 atrial septal defect 32 very rare (1%) HP:0001631
16 biliary cirrhosis 32 very rare (1%) HP:0002613
17 pancreatic cysts 32 very rare (1%) HP:0001737
18 cholestasis 32 very rare (1%) HP:0001396
19 high forehead 32 very rare (1%) HP:0000348
20 large fontanelles 32 very rare (1%) HP:0000239
21 postaxial foot polydactyly 32 very rare (1%) HP:0001830
22 situs inversus totalis 32 very rare (1%) HP:0001696
23 aortic valve stenosis 32 very rare (1%) HP:0001650
24 hepatosplenomegaly 32 very rare (1%) HP:0001433
25 stage 5 chronic kidney disease 32 very rare (1%) HP:0003774
26 multiple glomerular cysts 32 very rare (1%) HP:0100611
27 choroid plexus cyst 32 very rare (1%) HP:0002190
28 right ventricular hypertrophy 32 very rare (1%) HP:0001667
29 bile duct proliferation 32 HP:0001408

Symptoms via clinical synopsis from OMIM:

57
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 NPHP3
2 Meckel Syndrome 7 29

Anatomical Context for Meckel Syndrome, Type 7

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

41
Kidney, Liver, Pancreas, Brain

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. 8 71
18371931 2008
2
Goldston syndrome: report of a case. 38 8
11693790 2001
3
Goldston syndrome reconsidered. 38 8
8357569 1993
4
The Goldston syndrome: report of a case. 38 8
2664743 1989
5
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 8
21110233 2011
6
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 71
20007846 2010
7
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 8
15666242 2005
8
Meckel syndrome and Dandy Walker malformation. 8
8867663 1996
9
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? 8
1785635 1991
10
Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? 8
1867280 1991
11
Dandy-Walker malformation in the Meckel syndrome. 8
2063927 1991
12
Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases. 8
4036877 1985
13
The Meckel syndrome: clinicopathological findings in 67 patients. 8
6486167 1984
14
NEONATAL POLYCYSTIC KIDNEY WITH BRAIN DEFECT. 8
14077166 1963
15
Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis. 38
31218169 2019
16
Goldston syndrome. 38
21453625 2011
17
Goldston syndrome in a fetus: case report and literature review. 38
20704482 2010
18
Dandy-Walker malformation associated with polycystic kidneys: Goldston syndrome revisited. 38
16931025 2006
19
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. 38
11807905 2002

Variations for Meckel Syndrome, Type 7

ClinVar genetic disease variations for Meckel Syndrome, Type 7:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3 NM_153240.5(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 3:132419192-132419192 3:132700348-132700348
2 NPHP3 NM_153240.5(NPHP3): c.2694-2_2694-1del deletion Pathogenic rs751527253 3:132408108-132408109 3:132689264-132689265
3 NPHP3 NM_153240.5(NPHP3): c.1817G> A (p.Trp606Ter) single nucleotide variant Pathogenic/Likely pathogenic rs182135982 3:132418832-132418832 3:132699988-132699988
4 NPHP3 NM_153240.5(NPHP3): c.1082C> G (p.Ser361Cys) single nucleotide variant Uncertain significance rs146250226 3:132432006-132432006 3:132713162-132713162
5 NPHP3 NM_153240.5(NPHP3): c.944A> T (p.Asp315Val) single nucleotide variant Uncertain significance rs149565564 3:132433942-132433942 3:132715098-132715098
6 NPHP3 NM_153240.5(NPHP3): c.65C> T (p.Ala22Val) single nucleotide variant Uncertain significance rs369447363 3:132441135-132441135 3:132722291-132722291
7 NPHP3 NM_153240.5(NPHP3): c.3896G> A (p.Gly1299Asp) single nucleotide variant Uncertain significance rs190548695 3:132400851-132400851 3:132682007-132682007
8 NPHP3 NM_153240.5(NPHP3): c.2881C> G (p.Gln961Glu) single nucleotide variant Uncertain significance 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

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 cilium GO:0005929 8.62 NPHP3 MKS1

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.16 NPHP3 MKS1
2 determination of left/right symmetry GO:0007368 8.96 NPHP3 MKS1
3 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 8.62 NPHP3 MKS1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....