MKS7
MCID: MCK030
MIFTS: 49

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 39
Meckel Syndrome 7 57 12 20 73 29 13 15
Meckel Syndrome Type 7 20 58 29 6
Goldston Syndrome 57 20 58
Mks7 57 12 73
Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome 20 58
Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst 44 71
Nphp3-Related Meckel-Like Syndrome 20 58
Meckel-Like Syndrome Type 1 20 58
Renal-Hepatic-Pancreatic Dysplasia with Dandy-Walker Cyst 57
Dandy-Walker Cyst with Renal-Hepatic-Pancreatic Dysplasia 20
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®:

57 (Updated 05-Mar-2021)
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® : 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) (Updated 05-Mar-2021)

MalaCards based summary : Meckel Syndrome, Type 7, also known as meckel syndrome 7, is related to oligohydramnios and polycystic kidney 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.

GARD : 20 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 : 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 68)
# Related Disease Score Top Affiliating Genes
1 oligohydramnios 29.7 MKS1 CC2D2A
2 polycystic kidney disease 29.4 NPHP3-ACAD11 NPHP3 MKS1 CC2D2A
3 encephalocele 29.2 MKS1 CC2D2A B9D2 B9D1
4 polycystic kidney disease 4 with or without polycystic liver disease 28.6 TMEM231 TMEM216 NPHP3 MKS1 CC2D2A B9D1
5 meckel syndrome, type 1 27.6 TMEM237 TMEM231 TMEM216 NPHP3 MKS1 CC2D2A
6 renal dysplasia 10.2
7 congenital hepatic fibrosis 10.1
8 orofaciodigital syndrome 10.1 TMEM231 TMEM216
9 renal-hepatic-pancreatic dysplasia 1 10.0 NPHP3-AS1 NPHP3-ACAD11 NPHP3
10 renal-hepatic-pancreatic dysplasia 10.0 NPHP3-AS1 NPHP3-ACAD11 NPHP3
11 orofaciodigital syndrome iv 10.0 TMEM231 TMEM216
12 joubert syndrome 10 10.0 TMEM216 CC2D2A
13 nephronophthisis 3 10.0 NPHP3-AS1 NPHP3-ACAD11 NPHP3
14 fibrosis of extraocular muscles, congenital, 1 10.0
15 hydrocephalus 10.0
16 cholestasis 10.0
17 occipital encephalocele 10.0
18 joubert syndrome 13 9.9 TMEM216 CC2D2A
19 joubert syndrome 24 9.9 TMEM231 B9D1
20 nephronophthisis 11 9.9 TMEM216 NPHP3 CC2D2A
21 joubert syndrome 8 9.9 TMEM216 NPHP3 CC2D2A
22 juvenile nephronophthisis 9.8 NPHP3-AS1 NPHP3-ACAD11 NPHP3
23 retinitis pigmentosa 54 9.8 TMEM231 CC2D2A
24 cystic kidney disease 9.8 NPHP3 MKS1 CC2D2A
25 cone-rod dystrophy 16 9.8 TMEM231 B9D1
26 nephronophthisis 7 9.8 NPHP3 MKS1 CC2D2A
27 johanson-blizzard syndrome 9.7 TMEM231 TMEM216 CC2D2A
28 nephronophthisis 14 9.7 NPHP3 MKS1 CC2D2A
29 joubert syndrome 6 9.7 TMEM216 MKS1 CC2D2A
30 joubert syndrome 9 9.7 TMEM216 MKS1 CC2D2A
31 joubert syndrome 20 9.7 TMEM237 TMEM231
32 nephronophthisis 12 9.7 TMEM237 NPHP3 B9D2
33 bardet-biedl syndrome 14 9.7 TMEM216 MKS1 CC2D2A
34 nephronophthisis 9 9.6 TMEM216 NPHP3 MKS1 B9D2
35 ciliopathy 9.6 TMEM231 MKS1 CC2D2A
36 joubert syndrome 15 9.5 TMEM237 TMEM231 CC2D2A
37 joubert syndrome 7 9.5 TMEM216 MKS1 CC2D2A B9D2
38 joubert syndrome 2 9.5 TMEM216 MKS1 CC2D2A B9D2
39 arima syndrome 9.3 TMEM237 TMEM231 TMEM216 CC2D2A
40 nephronophthisis 1 9.3 NPHP3 MKS1 CC2D2A B9D2 B9D1
41 joubert syndrome 5 9.3 TMEM216 MKS1 CC2D2A B9D2 B9D1
42 joubert syndrome 14 9.2 TMEM237 TMEM231 TMEM216 B9D2 B9D1
43 joubert syndrome 3 9.1 TMEM216 NPHP3 MKS1 CC2D2A B9D2 B9D1
44 nephronophthisis 2 9.1 TMEM216 NPHP3 MKS1 CC2D2A B9D2 B9D1
45 visceral heterotaxy 9.1 TMEM216 NPHP3 MKS1 CC2D2A B9D2 B9D1
46 orofaciodigital syndrome vi 9.1 TMEM237 TMEM231 TMEM216 CC2D2A B9D1
47 bardet-biedl syndrome 9.1 TMEM216 NPHP3 MKS1 CC2D2A B9D2 B9D1
48 short-rib thoracic dysplasia 1 with or without polydactyly 9.1 TMEM237 TMEM231 TMEM216 CC2D2A B9D1
49 primary ciliary dyskinesia 9.1 TMEM216 NPHP3 MKS1 CC2D2A B9D2 B9D1
50 kartagener syndrome 8.9 TMEM237 TMEM216 NPHP3 MKS1 CC2D2A 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Meckel Syndrome, Type 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 B9D1 B9D2 CC2D2A MKS1 NPHP3 TMEM231
2 embryo MP:0005380 9.73 B9D1 B9D2 CC2D2A MKS1 NPHP3 TMEM231
3 craniofacial MP:0005382 9.72 B9D1 B9D2 CC2D2A MKS1 NPHP3
4 limbs/digits/tail MP:0005371 9.55 B9D1 B9D2 CC2D2A MKS1 TMEM231
5 nervous system MP:0003631 9.5 B9D1 B9D2 CC2D2A MKS1 NPHP3 TMEM231
6 renal/urinary system MP:0005367 9.02 B9D1 B9D2 CC2D2A MKS1 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 57
18371931 2008
2
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 57
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. 57
15666242 2005
5
Goldston syndrome: report of a case. 57
11693790 2001
6
Meckel syndrome and Dandy Walker malformation. 57
8867663 1996
7
Goldston syndrome reconsidered. 57
8357569 1993
8
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? 57
1785635 1991
9
Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? 57
1867280 1991
10
Dandy-Walker malformation in the Meckel syndrome. 57
2063927 1991
11
The Goldston syndrome: report of a case. 57
2664743 1989
12
Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases. 57
4036877 1985
13
The Meckel syndrome: clinicopathological findings in 67 patients. 57
6486167 1984
14
NEONATAL POLYCYSTIC KIDNEY WITH BRAIN DEFECT. 57
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 98)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) SNV Pathogenic 2636 rs119456962 3:132419192-132419192 3:132700348-132700348
2 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) SNV Pathogenic 2634 rs119456961 3:132423185-132423185 3:132704341-132704341
3 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter) SNV Pathogenic 693989 rs780020801 3:132402320-132402320 3:132683476-132683476
4 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) SNV Pathogenic 216136 rs182135982 3:132418832-132418832 3:132699988-132699988
5 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2694-2_2694-1del Deletion Pathogenic 220868 rs751527253 3:132408108-132408109 3:132689264-132689265
6 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) SNV Likely pathogenic 693990 rs781180515 3:132411631-132411631 3:132692787-132692787
7 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2571-12C>G SNV Uncertain significance 343384 rs886058003 3:132409506-132409506 3:132690662-132690662
8 NPHP3-AS1 NM_153240.5(NPHP3):c.208C>T (p.Leu70=) SNV Uncertain significance 343394 rs765533675 3:132440992-132440992 3:132722148-132722148
9 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*1176G>A SNV Uncertain significance 343353 rs183658380 3:132399578-132399578 3:132680734-132680734
10 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*784C>T SNV Uncertain significance 343360 rs376015619 3:132399970-132399970 3:132681126-132681126
11 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*759G>A SNV Uncertain significance 343361 rs116338839 3:132399995-132399995 3:132681151-132681151
12 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) SNV Uncertain significance 343380 rs777768843 3:132407634-132407634 3:132688790-132688790
13 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) SNV Uncertain significance 291194 rs190548695 3:132400851-132400851 3:132682007-132682007
14 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) SNV Uncertain significance 343382 rs144989330 3:132407920-132407920 3:132689076-132689076
15 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) SNV Uncertain significance 450392 rs146250226 3:132432006-132432006 3:132713162-132713162
16 NPHP3-ACAD11 NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) SNV Uncertain significance 497874 rs149565564 3:132433942-132433942 3:132715098-132715098
17 NPHP3-AS1 NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) SNV Uncertain significance 500896 rs369447363 3:132441135-132441135 3:132722291-132722291
18 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) SNV Uncertain significance 343382 rs144989330 3:132407920-132407920 3:132689076-132689076
19 NPHP3-ACAD11 NM_153240.5(NPHP3):c.670+13C>T SNV Uncertain significance 262716 rs202228115 3:132437825-132437825 3:132718981-132718981
20 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*46A>G SNV Uncertain significance 343373 rs530016526 3:132400708-132400708 3:132681864-132681864
21 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) SNV Uncertain significance 592218 rs371505908 3:132403464-132403464 3:132684620-132684620
22 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) SNV Uncertain significance 900219 3:132418206-132418206 3:132699362-132699362
23 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) SNV Uncertain significance 900220 3:132418291-132418291 3:132699447-132699447
24 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1887+6G>A SNV Uncertain significance 262693 rs79113972 3:132418756-132418756 3:132699912-132699912
25 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*1094A>G SNV Uncertain significance 900923 3:132399660-132399660 3:132680816-132680816
26 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*626C>G SNV Uncertain significance 900989 3:132400128-132400128 3:132681284-132681284
27 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe) SNV Uncertain significance 901257 3:132405147-132405147 3:132686303-132686303
28 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) SNV Uncertain significance 195784 rs146890274 3:132405152-132405152 3:132686308-132686308
29 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) SNV Uncertain significance 262704 rs11915053 3:132405181-132405181 3:132686337-132686337
30 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) SNV Uncertain significance 286705 rs140594430 3:132408049-132408049 3:132689205-132689205
31 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser) SNV Uncertain significance 901375 3:132418796-132418796 3:132699952-132699952
32 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1118+11A>C SNV Uncertain significance 901430 3:132431959-132431959 3:132713115-132713115
33 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*437C>T SNV Uncertain significance 900990 3:132400317-132400317 3:132681473-132681473
34 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*351A>T SNV Uncertain significance 901547 3:132400403-132400403 3:132681559-132681559
35 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) SNV Uncertain significance 195996 rs143451766 3:132401603-132401603 3:132682759-132682759
36 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) SNV Uncertain significance 262709 rs146759786 3:132401642-132401642 3:132682798-132682798
37 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) SNV Uncertain significance 846397 3:132418872-132418872 3:132700028-132700028
38 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) SNV Uncertain significance 901926 3:132418892-132418892 3:132700048-132700048
39 NPHP3-ACAD11 NM_153240.5(NPHP3):c.520-10C>G SNV Uncertain significance 379760 rs200144727 3:132437998-132437998 3:132719154-132719154
40 NPHP3-ACAD11 NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr) SNV Uncertain significance 901991 3:132438568-132438568 3:132719724-132719724
41 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*926C>T SNV Uncertain significance 902586 3:132399828-132399828 3:132680984-132680984
42 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*852C>A SNV Uncertain significance 902587 3:132399902-132399902 3:132681058-132681058
43 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3697-7T>A SNV Uncertain significance 902644 3:132401669-132401669 3:132682825-132682825
44 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) SNV Uncertain significance 531625 rs150867534 3:132407633-132407633 3:132688789-132688789
45 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) SNV Uncertain significance 697112 rs117872197 3:132415614-132415614 3:132696770-132696770
46 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2089-9C>T SNV Uncertain significance 211684 rs141397228 3:132415666-132415666 3:132696822-132696822
47 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) SNV Uncertain significance 291053 rs368126549 3:132420369-132420369 3:132701525-132701525
48 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1524+11G>T SNV Uncertain significance 902831 3:132423031-132423031 3:132704187-132704187
49 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1275+3A>T SNV Uncertain significance 931715 3:132426942-132426942 3:132708098-132708098
50 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) SNV Uncertain significance 219480 rs146054765 3:132401596-132401596 3:132682752-132682752

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 9.86 TMEM237 TMEM231 TMEM216 NPHP3 MKS1 CC2D2A
2 cytoskeleton GO:0005856 9.8 TMEM216 NPHP3-ACAD11 MKS1 CC2D2A B9D2 B9D1
3 cilium GO:0005929 9.7 TMEM237 TMEM231 TMEM216 NPHP3 MKS1 CC2D2A
4 ciliary basal body GO:0036064 9.54 MKS1 B9D2 B9D1
5 MKS complex GO:0036038 9.43 TMEM231 TMEM216 MKS1 CC2D2A B9D2 B9D1
6 ciliary transition zone GO:0035869 9.17 TMEM237 TMEM231 TMEM216 MKS1 CC2D2A B9D2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 9.63 NPHP3 MKS1 CC2D2A
2 smoothened signaling pathway GO:0007224 9.61 TMEM231 CC2D2A B9D1
3 camera-type eye development GO:0043010 9.58 TMEM231 CC2D2A B9D1
4 ciliary basal body-plasma membrane docking GO:0097711 9.55 TMEM216 MKS1 CC2D2A B9D2 B9D1
5 regulation of protein localization GO:0032880 9.54 TMEM231 B9D1
6 vasculature development GO:0001944 9.52 TMEM231 B9D1
7 motile cilium assembly GO:0044458 9.51 MKS1 CC2D2A
8 embryonic digit morphogenesis GO:0042733 9.5 TMEM231 MKS1 B9D1
9 cell projection organization GO:0030030 9.5 TMEM237 TMEM231 TMEM216 MKS1 CC2D2A B9D2
10 embryonic brain development GO:1990403 9.49 MKS1 CC2D2A
11 neuroepithelial cell differentiation GO:0060563 9.48 TMEM231 B9D1
12 non-motile cilium assembly GO:1905515 9.43 TMEM216 MKS1 CC2D2A
13 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.37 NPHP3 MKS1
14 cilium assembly GO:0060271 9.23 TMEM237 TMEM231 TMEM216 NPHP3 MKS1 CC2D2A

Sources for Meckel Syndrome, Type 7

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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