MCID: MCK033
MIFTS: 31

Meckel Syndrome, Type 4

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Fetal diseases, Immune diseases, Liver diseases, Endocrine diseases

Aliases & Classifications for Meckel Syndrome, Type 4

MalaCards integrated aliases for Meckel Syndrome, Type 4:

Name: Meckel Syndrome, Type 4 57 40 73
Meckel Syndrome 4 57 12 75 13
Mks4 57 12 75
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:



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 retinal aplasia. An important gene associated with Meckel Syndrome, Type 4 is CEP290 (Centrosomal Protein 290). The drug cysteine has been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are renal cyst and cleft palate

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

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Meckel Syndrome, Type 4

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
microphthalmia (rare)

Abdomen Liver:
bile duct proliferation
ductal plate malformations

Skeletal Feet:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia

Skeletal Limbs:
bowing of the long bones (rare)

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

Head And Neck Head:
microcephaly (in some patients)

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

Human phenotypes related to Meckel Syndrome, Type 4:

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

MGI Mouse Phenotypes related to Meckel Syndrome, Type 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.62 CEP290 TMTC3

Drugs & Therapeutics for Meckel Syndrome, Type 4

Drugs for Meckel Syndrome, Type 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Recruiting NCT03140969 Phase 1, Phase 2 QR-110
2 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
3 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042

Search 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

Variations for Meckel Syndrome, Type 4

ClinVar genetic disease variations for Meckel Syndrome, Type 4:

6
(show top 50) (show all 79)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
2 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
3 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
4 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh38 Chromosome 12, 88101183: 88101183
5 CEP290 CEP290, 4-BP DEL, 384TAGA deletion Pathogenic
6 CEP290 CEP290, EX3, T-A, +2 single nucleotide variant Pathogenic
7 CEP290 NM_025114.3(CEP290): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs137852835 GRCh37 Chromosome 12, 88524101: 88524101
8 CEP290 NM_025114.3(CEP290): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs137852835 GRCh38 Chromosome 12, 88130324: 88130324
9 CEP290 CEP290, 1-BP DEL, 5489A deletion Pathogenic
10 CEP290 NM_025114.3(CEP290): c.1860_1861delAA (p.Asp622Phefs) deletion Likely pathogenic rs386834151 GRCh38 Chromosome 12, 88115146: 88115147
11 CEP290 NM_025114.3(CEP290): c.1219_1220delAT (p.Met407Glufs) deletion Pathogenic rs386834148 GRCh37 Chromosome 12, 88514913: 88514914
12 CEP290 NM_025114.3(CEP290): c.1219_1220delAT (p.Met407Glufs) deletion Pathogenic rs386834148 GRCh38 Chromosome 12, 88121136: 88121137
13 CEP290 NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs) deletion Pathogenic rs386834149 GRCh37 Chromosome 12, 88513962: 88513962
14 CEP290 NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs) deletion Pathogenic rs386834149 GRCh38 Chromosome 12, 88120185: 88120185
15 CEP290 NM_025114.3(CEP290): c.180+2T> A single nucleotide variant Likely pathogenic rs386834150 GRCh37 Chromosome 12, 88534731: 88534731
16 CEP290 NM_025114.3(CEP290): c.180+2T> A single nucleotide variant Likely pathogenic rs386834150 GRCh38 Chromosome 12, 88140954: 88140954
17 CEP290 NM_025114.3(CEP290): c.1860_1861delAA (p.Asp622Phefs) deletion Likely pathogenic rs386834151 GRCh37 Chromosome 12, 88508923: 88508924
18 CEP290 NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter) single nucleotide variant Pathogenic rs386834152 GRCh37 Chromosome 12, 88508265: 88508265
19 CEP290 NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter) single nucleotide variant Pathogenic rs386834152 GRCh38 Chromosome 12, 88114488: 88114488
20 CEP290 NM_025114.3(CEP290): c.289G> T (p.Glu97Ter) single nucleotide variant Likely pathogenic rs386834153 GRCh37 Chromosome 12, 88532930: 88532930
21 CEP290 NM_025114.3(CEP290): c.289G> T (p.Glu97Ter) single nucleotide variant Likely pathogenic rs386834153 GRCh38 Chromosome 12, 88139153: 88139153
22 CEP290 NM_025114.3(CEP290): c.3175delA (p.Ile1059Terfs) deletion Likely pathogenic rs386834154 GRCh37 Chromosome 12, 88487681: 88487681
23 CEP290 NM_025114.3(CEP290): c.3175delA (p.Ile1059Terfs) deletion Likely pathogenic rs386834154 GRCh38 Chromosome 12, 88093904: 88093904
24 CEP290 NM_025114.3(CEP290): c.3446_3447delAA (p.Lys1149Serfs) deletion Likely pathogenic rs386834155 GRCh37 Chromosome 12, 88486472: 88486473
25 CEP290 NM_025114.3(CEP290): c.3446_3447delAA (p.Lys1149Serfs) deletion Likely pathogenic rs386834155 GRCh38 Chromosome 12, 88092695: 88092696
26 CEP290 NM_025114.3(CEP290): c.381_382delAGinsT (p.Lys127Asnfs) indel Likely pathogenic rs386834156 GRCh37 Chromosome 12, 88530479: 88530480
27 CEP290 NM_025114.3(CEP290): c.381_382delAGinsT (p.Lys127Asnfs) indel Likely pathogenic rs386834156 GRCh38 Chromosome 12, 88136702: 88136703
28 CEP290 NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs) deletion Pathogenic rs386834157 GRCh37 Chromosome 12, 88530474: 88530477
29 CEP290 NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs) deletion Pathogenic rs386834157 GRCh38 Chromosome 12, 88136697: 88136700
30 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
31 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh38 Chromosome 12, 88077790: 88077790
32 CEP290 NM_025114.3(CEP290): c.5850delT (p.Phe1950Leufs) deletion Likely pathogenic rs386834159 GRCh37 Chromosome 12, 88465563: 88465563
33 CEP290 NM_025114.3(CEP290): c.5850delT (p.Phe1950Leufs) deletion Likely pathogenic rs386834159 GRCh38 Chromosome 12, 88071786: 88071786
34 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh37 Chromosome 12, 88471094: 88471097
35 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh38 Chromosome 12, 88077317: 88077320
36 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh37 Chromosome 12, 88512305: 88512306
37 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh38 Chromosome 12, 88118528: 88118529
38 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh37 Chromosome 12, 88508921: 88508924
39 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh38 Chromosome 12, 88115144: 88115147
40 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh37 Chromosome 12, 88474003: 88474003
41 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh38 Chromosome 12, 88080226: 88080226
42 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh37 Chromosome 12, 88453716: 88453716
43 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh38 Chromosome 12, 88059939: 88059939
44 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh38 Chromosome 12, 88086450: 88086450
45 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh37 Chromosome 12, 88480227: 88480227
46 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 GRCh37 Chromosome 12, 88478545: 88478545
47 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 GRCh38 Chromosome 12, 88084768: 88084768
48 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 GRCh37 Chromosome 12, 88479860: 88479860
49 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 GRCh38 Chromosome 12, 88086083: 88086083
50 CEP290 NM_025114.3(CEP290): c.654T> G (p.Tyr218Ter) single nucleotide variant Pathogenic rs863225185 GRCh37 Chromosome 12, 88524060: 88524060

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

Sources for Meckel Syndrome, Type 4

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