MKS4
MCID: MCK033
MIFTS: 36

Meckel Syndrome, Type 4 (MKS4)

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 4

MalaCards integrated aliases for Meckel Syndrome, Type 4:

Name: Meckel Syndrome, Type 4 57 40 72
Meckel Syndrome 4 57 12 74 13 15
Mks4 57 12 74
Meckel-Gruber Syndrome, Type 4 57 12
Meckel Syndrome Type 4 29 6

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or perinatal lethal


HPO:

32
meckel syndrome, type 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070118
ICD10 33 Q61.9
UMLS 72 C1970161

Summaries for Meckel Syndrome, Type 4

OMIM : 57 Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). (611134)

MalaCards based summary : Meckel Syndrome, Type 4, also known as meckel syndrome 4, is related to joubert syndrome 5 and joubert syndrome 6. An important gene associated with Meckel Syndrome, Type 4 is CEP290 (Centrosomal Protein 290). Affiliated tissues include bone and kidney, and related phenotypes are hydrocephalus and bowing of the long bones

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.

UniProtKB/Swiss-Prot : 74 Meckel syndrome 4: 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 4

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 4:



Diseases related to Meckel Syndrome, Type 4

Symptoms & Phenotypes for Meckel Syndrome, Type 4

Human phenotypes related to Meckel Syndrome, Type 4:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 occasional (7.5%) HP:0000238
2 bowing of the long bones 32 occasional (7.5%) HP:0006487
3 microcephaly 32 occasional (7.5%) HP:0000252
4 cleft palate 32 occasional (7.5%) HP:0000175
5 microphthalmia 32 occasional (7.5%) HP:0000568
6 anencephaly 32 occasional (7.5%) HP:0002323
7 molar tooth sign on mri 32 occasional (7.5%) HP:0002419
8 intrauterine growth retardation 32 HP:0001511
9 atrial septal defect 32 HP:0001631
10 dandy-walker malformation 32 HP:0001305
11 meningocele 32 HP:0002435
12 ventricular septal defect 32 HP:0001629
13 postaxial hand polydactyly 32 HP:0001162
14 encephalocele 32 HP:0002084
15 hypoplasia of the corpus callosum 32 HP:0002079
16 renal cyst 32 HP:0000107
17 agenesis of cerebellar vermis 32 HP:0002335
18 bile duct proliferation 32 HP:0001408

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
intrauterine growth retardation

Head And Neck Mouth:
cleft palate (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Skeletal Feet:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia

Skeletal Limbs:
bowing of the long bones (rare)

Abdomen Liver:
bile duct proliferation
ductal plate malformations

Head And Neck Eyes:
microphthalmia (rare)

Skeletal Hands:
polydactyly, postaxial

Neurologic Central Nervous System:
dandy-walker malformation (in some patients)
hydrocephalus (in some patients)
cerebellar vermis hypoplasia (in some patients)
encephalocele, occipital
meningocele, occipital
more
Cardiovascular Heart:
septal defects (in some patients)

Clinical features from OMIM:

611134

Drugs & Therapeutics for Meckel Syndrome, Type 4

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 4

Genetic Tests for Meckel Syndrome, Type 4

Genetic tests related to Meckel Syndrome, Type 4:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 4 29 CEP290

Anatomical Context for Meckel Syndrome, Type 4

MalaCards organs/tissues related to Meckel Syndrome, Type 4:

41
Bone, Kidney

Publications for Meckel Syndrome, Type 4

Articles related to Meckel Syndrome, Type 4:

# Title Authors PMID Year
1
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 38 8 71
17564974 2007
2
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 8 71
17705300 2008
3
Clinical utility gene card for: Meckel syndrome. 71
21368913 2011
4
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 71
17345604 2007
5
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 8
17160906 2007
6
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. 38
26982032 2016
7
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 38
23954617 2013
8
Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. 38
22699515 2012
9
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 38
20177705 2010
10
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 38
19777577 2009

Variations for Meckel Syndrome, Type 4

ClinVar genetic disease variations for Meckel Syndrome, Type 4:

6 (show all 39)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290): c.1078C> T (p.Arg360Ter) single nucleotide variant Pathogenic rs776645403 12:88519134-88519134 12:88125357-88125357
2 CEP290 NM_025114.3(CEP290): c.5745dup (p.Lys1916Terfs) duplication Pathogenic rs751361090 12:88465668-88465668 12:88071891-88071891
3 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 12:88471040-88471040 12:88077263-88077263
4 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 12:88494960-88494960 12:88101183-88101183
5 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 12:88477713-88477713 12:88083936-88083936
6 CEP290 CEP290, 4-BP DEL, 384TAGA deletion Pathogenic
7 CEP290 CEP290, EX3, T-A, +2 single nucleotide variant Pathogenic
8 CEP290 NM_025114.3(CEP290): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs137852835 12:88524101-88524101 12:88130324-88130324
9 CEP290 CEP290, 1-BP DEL, 5489A deletion Pathogenic
10 CEP290 NM_025114.3(CEP290): c.1066-1G> A single nucleotide variant Pathogenic rs965522059 12:88519147-88519147 12:88125370-88125370
11 CEP290 NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter) single nucleotide variant Pathogenic rs386834152 12:88508265-88508265 12:88114488-88114488
12 CEP290 NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs) deletion Pathogenic rs386834157 12:88530474-88530477 12:88136697-88136700
13 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 12:88471567-88471567 12:88077790-88077790
14 CEP290 NM_025114.3(CEP290): c.1219_1220delAT (p.Met407Glufs) short repeat Pathogenic rs386834148 12:88514913-88514914 12:88121136-88121137
15 CEP290 NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs) deletion Pathogenic rs386834149 12:88513962-88513962 12:88120185-88120185
16 CEP290 NM_025114.3(CEP290): c.5344C> T (p.Arg1782Ter) single nucleotide variant Pathogenic rs575767207 12:88472889-88472889 12:88079112-88079112
17 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 12:88476938-88476938 12:88083161-88083161
18 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 12:88479860-88479860 12:88086083-88086083
19 CEP290 NM_025114.3(CEP290): c.654T> G (p.Tyr218Ter) single nucleotide variant Pathogenic rs863225185 12:88524060-88524060 12:88130283-88130283
20 CEP290 NM_025114.3(CEP290): c.1429C> T (p.Arg477Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1170451277 12:88513984-88513984 12:88120207-88120207
21 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 12:88480227-88480227 12:88086450-88086450
22 CEP290 NM_025114.3(CEP290): c.180+2T> A single nucleotide variant Likely pathogenic rs386834150 12:88534731-88534731 12:88140954-88140954
23 CEP290 NM_025114.3(CEP290): c.5850delT (p.Phe1950Leufs) deletion Likely pathogenic rs386834159 12:88465563-88465563 12:88071786-88071786
24 CEP290 NM_025114.3(CEP290): c.289G> T (p.Glu97Ter) single nucleotide variant Likely pathogenic rs386834153 12:88532930-88532930 12:88139153-88139153
25 CEP290 NM_025114.3(CEP290): c.3175delA (p.Ile1059Terfs) deletion Likely pathogenic rs62640570 12:88487681-88487681 12:88093904-88093904
26 CEP290 NM_025114.3(CEP290): c.3446_3447delAA (p.Lys1149Serfs) deletion Likely pathogenic rs386834155 12:88486472-88486473 12:88092695-88092696
27 CEP290 NM_025114.3(CEP290): c.381_382delAGinsT (p.Lys127Asnfs) indel Likely pathogenic rs386834156 12:88530479-88530480 12:88136702-88136703
28 CEP290 NM_025114.3(CEP290): c.1860_1861delAA (p.Asp622Phefs) deletion Likely pathogenic rs386834151 12:88508923-88508924 12:88115146-88115147
29 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs760915898 12:88479815-88479815 12:88086038-88086038
30 CEP290 NM_025114.3(CEP290): c.963T> A (p.Asp321Glu) single nucleotide variant Uncertain significance rs774072453 12:88520195-88520195 12:88126418-88126418
31 CEP290 NM_025114.3(CEP290): c.4938A> G (p.Lys1646=) single nucleotide variant Uncertain significance rs371582975 12:88476882-88476882 12:88083105-88083105
32 CEP290 NM_025114.3(CEP290): c.2551G> A (p.Val851Ile) single nucleotide variant Uncertain significance rs764963626 12:88500808-88500808 12:88107031-88107031
33 CEP290 NM_025114.3(CEP290): c.5998A> G (p.Ile2000Val) single nucleotide variant Uncertain significance rs183071230 12:88465084-88465084 12:88071307-88071307
34 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 12:88480220-88480220 12:88086443-88086443
35 CEP290 NM_025114.3(CEP290): c.3660G> T (p.Lys1220Asn) single nucleotide variant Uncertain significance rs201982308 12:88483178-88483178 12:88089401-88089401
36 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 12:88472949-88472949 12:88079172-88079172
37 CEP290 NM_025114.3(CEP290): c.6392A> G (p.Glu2131Gly) single nucleotide variant Uncertain significance rs184323010 12:88454737-88454737 12:88060960-88060960
38 CEP290 NM_025114.3(CEP290): c.6629G> A (p.Arg2210His) single nucleotide variant Uncertain significance rs371833544 12:88453691-88453691 12:88059914-88059914
39 CEP290 NM_025114.3(CEP290): c.1670G> A (p.Arg557His) single nucleotide variant Uncertain significance rs184018899 12:88512301-88512301 12:88118524-88118524

Expression for Meckel Syndrome, Type 4

Search GEO for disease gene expression data for Meckel Syndrome, Type 4.

Pathways for Meckel Syndrome, Type 4

GO Terms for Meckel Syndrome, Type 4

Cellular components related to Meckel Syndrome, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.56 TMEM231 TMEM138 MKS1 CEP290
2 cilium GO:0005929 9.46 TMEM231 TMEM138 MKS1 CEP290
3 centriole GO:0005814 9.37 MKS1 CEP290
4 ciliary basal body GO:0036064 9.32 MKS1 CEP290
5 ciliary transition zone GO:0035869 9.13 TMEM231 MKS1 CEP290
6 MKS complex GO:0036038 8.8 TMEM231 MKS1 CEP290

Biological processes related to Meckel Syndrome, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.26 MKS1 CEP290
2 cilium assembly GO:0060271 9.26 TMEM231 TMEM138 MKS1 CEP290
3 embryonic digit morphogenesis GO:0042733 9.16 TMEM231 MKS1
4 cell projection organization GO:0030030 8.92 TMEM231 TMEM138 MKS1 CEP290

Sources for Meckel Syndrome, Type 4

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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