MCID: MCK030
MIFTS: 30

Meckel Syndrome, Type 7

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Nephrological diseases, Fetal diseases, Endocrine diseases, Eye diseases, Bone diseases, Immune 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 75 13
Meckel Syndrome Type 7 53 59 29 6
Goldston Syndrome 57 53 59
Mks7 57 12 75
Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome 53 59
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
Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst 73
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:



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 nephronophthisis 3 and renal-hepatic-pancreatic 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 abnormality of the pancreas

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

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Meckel Syndrome, Type 7

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

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 abnormality of the pancreas 59 32 frequent (33%) Frequent (79-30%) HP:0001732
3 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
4 intestinal malrotation 59 32 frequent (33%) Frequent (79-30%) HP:0002566
5 oligohydramnios 59 32 very rare (1%) Frequent (79-30%) HP:0001562
6 dandy-walker malformation 59 32 very rare (1%) Very frequent (99-80%) HP:0001305
7 pulmonary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002089
8 abnormal liver parenchyma morphology 59 32 frequent (33%) Frequent (79-30%) HP:0030146
9 abnormal biliary tract morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012440
10 renal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000110
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 right ventricular hypertrophy 32 very rare (1%) HP:0001667
27 bile duct proliferation 32 HP:0001408
28 choroid plexus cyst 32 very rare (1%) HP:0002190
29 multiple glomerular cysts 32 very rare (1%) HP:0100611

Drugs & Therapeutics for Meckel Syndrome, Type 7

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

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

Anatomical Context for Meckel Syndrome, Type 7

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

41
Kidney, Liver, Pancreas

Publications for Meckel Syndrome, Type 7

Articles related to Meckel Syndrome, Type 7:

# Title Authors Year
1
Goldston syndrome in a fetus: case report and literature review. ( 20704482 )
2010

Variations for Meckel Syndrome, Type 7

ClinVar genetic disease variations for Meckel Syndrome, Type 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP3 NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh37 Chromosome 3, 132419192: 132419192
2 NPHP3 NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh38 Chromosome 3, 132700348: 132700348
3 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh38 Chromosome 3, 132689264: 132689265
4 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh37 Chromosome 3, 132408108: 132408109

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

Sources for Meckel Syndrome, Type 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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