MCID: MCK012
MIFTS: 30

Meckel Syndrome, Type 6

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 6

MalaCards integrated aliases for Meckel Syndrome, Type 6:

Name: Meckel Syndrome, Type 6 57 40 73
Meckel Syndrome 6 57 12 75 13
Mks6 57 12 75
Meckel Syndrome Type 6 29 6
Meckel-Gruber Syndrome, Type 6 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or perinatal lethal


HPO:

32
meckel syndrome, type 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 6

UniProtKB/Swiss-Prot : 75 Meckel syndrome 6: 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.

MalaCards based summary : Meckel Syndrome, Type 6, also known as meckel syndrome 6, is related to bardet-biedl syndrome 15 and bardet-biedl syndrome 13. An important gene associated with Meckel Syndrome, Type 6 is CC2D2A (Coiled-Coil And C2 Domain Containing 2A). Affiliated tissues include kidney and liver, and related phenotypes are hydrocephalus and cleft palate

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32.

Description from OMIM: 612284

Related Diseases for Meckel Syndrome, Type 6

Symptoms & Phenotypes for Meckel Syndrome, Type 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate

Skeletal Feet:
club feet
polydactyly, postaxial

Neurologic Central Nervous System:
hydrocephalus (in some patients)
encephalocele, occipital
anencephaly (in some patients)

Abdomen Liver:
hepatic fibrosis
bile duct proliferation
ductal plate malformations

Skeletal Hands:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia


Clinical features from OMIM:

612284

Human phenotypes related to Meckel Syndrome, Type 6:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 occasional (7.5%) HP:0000238
2 cleft palate 32 occasional (7.5%) HP:0000175
3 hepatic fibrosis 32 HP:0001395
4 hand polydactyly 32 hallmark (90%) HP:0001161
5 talipes equinovarus 32 hallmark (90%) HP:0001762
6 cleft upper lip 32 occasional (7.5%) HP:0000204
7 postaxial hand polydactyly 32 HP:0001162
8 anencephaly 32 occasional (7.5%) HP:0002323
9 cystic liver disease 32 hallmark (90%) HP:0006706
10 pulmonary hypoplasia 32 HP:0002089
11 renal cyst 32 obligate (100%) HP:0000107
12 occipital encephalocele 32 obligate (100%) HP:0002085
13 abnormal internal genitalia 32 occasional (7.5%) HP:0000812
14 bile duct proliferation 32 HP:0001408

MGI Mouse Phenotypes related to Meckel Syndrome, Type 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 CC2D2A WDPCP
2 limbs/digits/tail MP:0005371 8.62 CC2D2A WDPCP

Drugs & Therapeutics for Meckel Syndrome, Type 6

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 6

Genetic Tests for Meckel Syndrome, Type 6

Genetic tests related to Meckel Syndrome, Type 6:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 6 29 CC2D2A

Anatomical Context for Meckel Syndrome, Type 6

MalaCards organs/tissues related to Meckel Syndrome, Type 6:

41
Kidney, Liver

Publications for Meckel Syndrome, Type 6

Variations for Meckel Syndrome, Type 6

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 6:

75
# Symbol AA change Variation ID SNP ID
1 CC2D2A p.Thr1114Met VAR_062293 rs386833752

ClinVar genetic disease variations for Meckel Syndrome, Type 6:

6
(show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 CC2D2A CC2D2A, 1762C-T single nucleotide variant Pathogenic
2 CC2D2A NM_001080522.2(CC2D2A): c.1339delG (p.Ala447Argfs) deletion Likely pathogenic rs386833745 GRCh37 Chromosome 4, 15529259: 15529259
3 CC2D2A NM_001080522.2(CC2D2A): c.1339delG (p.Ala447Argfs) deletion Likely pathogenic rs386833745 GRCh38 Chromosome 4, 15527636: 15527636
4 CC2D2A NM_001080522.2(CC2D2A): c.1537T> A (p.Trp513Arg) single nucleotide variant Likely pathogenic rs386833746 GRCh37 Chromosome 4, 15534886: 15534886
5 CC2D2A NM_001080522.2(CC2D2A): c.1537T> A (p.Trp513Arg) single nucleotide variant Likely pathogenic rs386833746 GRCh38 Chromosome 4, 15533263: 15533263
6 CC2D2A NM_001080522.2(CC2D2A): c.2486+1G> C single nucleotide variant Likely pathogenic rs386833747 GRCh37 Chromosome 4, 15554929: 15554929
7 CC2D2A NM_001080522.2(CC2D2A): c.2486+1G> C single nucleotide variant Likely pathogenic rs386833747 GRCh38 Chromosome 4, 15553306: 15553306
8 CC2D2A NM_001080522.2(CC2D2A): c.2773C> T (p.Arg925Ter) single nucleotide variant Likely pathogenic rs386833748 GRCh37 Chromosome 4, 15559074: 15559074
9 CC2D2A NM_001080522.2(CC2D2A): c.2773C> T (p.Arg925Ter) single nucleotide variant Likely pathogenic rs386833748 GRCh38 Chromosome 4, 15557451: 15557451
10 CC2D2A NM_001080522.2(CC2D2A): c.3084delG (p.Lys1029Argfs) deletion Pathogenic rs386833749 GRCh37 Chromosome 4, 15565047: 15565047
11 CC2D2A NM_001080522.2(CC2D2A): c.3084delG (p.Lys1029Argfs) deletion Pathogenic rs386833749 GRCh38 Chromosome 4, 15563424: 15563424
12 CC2D2A NM_001080522.2(CC2D2A): c.3145C> G (p.Arg1049Gly) single nucleotide variant Likely pathogenic rs386833750 GRCh37 Chromosome 4, 15565108: 15565108
13 CC2D2A NM_001080522.2(CC2D2A): c.3145C> G (p.Arg1049Gly) single nucleotide variant Likely pathogenic rs386833750 GRCh38 Chromosome 4, 15563485: 15563485
14 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 GRCh37 Chromosome 4, 15569300: 15569300
15 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 GRCh38 Chromosome 4, 15567677: 15567677
16 CC2D2A NM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met) single nucleotide variant Pathogenic rs386833752 GRCh37 Chromosome 4, 15569352: 15569352
17 CC2D2A NM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met) single nucleotide variant Pathogenic rs386833752 GRCh38 Chromosome 4, 15567729: 15567729
18 CC2D2A NM_001080522.2(CC2D2A): c.3399-3C> A single nucleotide variant Likely pathogenic rs386833753 GRCh37 Chromosome 4, 15570913: 15570913
19 CC2D2A NM_001080522.2(CC2D2A): c.3399-3C> A single nucleotide variant Likely pathogenic rs386833753 GRCh38 Chromosome 4, 15569290: 15569290
20 CC2D2A NM_001080522.2(CC2D2A): c.3522_3523insTG (p.His1175Cysfs) insertion Likely pathogenic rs386833754 GRCh37 Chromosome 4, 15572047: 15572048
21 CC2D2A NM_001080522.2(CC2D2A): c.3522_3523insTG (p.His1175Cysfs) insertion Likely pathogenic rs386833754 GRCh38 Chromosome 4, 15570424: 15570425
22 CC2D2A NM_001080522.2(CC2D2A): c.3544T> C (p.Trp1182Arg) single nucleotide variant Likely pathogenic rs386833755 GRCh37 Chromosome 4, 15572069: 15572069
23 CC2D2A NM_001080522.2(CC2D2A): c.3544T> C (p.Trp1182Arg) single nucleotide variant Likely pathogenic rs386833755 GRCh38 Chromosome 4, 15570446: 15570446
24 CC2D2A NM_001080522.2(CC2D2A): c.3584delT (p.Phe1195Serfs) deletion Likely pathogenic rs386833756 GRCh37 Chromosome 4, 15572109: 15572109
25 CC2D2A NM_001080522.2(CC2D2A): c.3584delT (p.Phe1195Serfs) deletion Likely pathogenic rs386833756 GRCh38 Chromosome 4, 15570486: 15570486
26 CC2D2A NM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs) duplication Pathogenic rs386833757 GRCh37 Chromosome 4, 15581593: 15581593
27 CC2D2A NM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs) duplication Pathogenic rs386833757 GRCh38 Chromosome 4, 15579970: 15579970
28 CC2D2A NM_001080522.2(CC2D2A): c.3893T> A (p.Val1298Asp) single nucleotide variant Likely pathogenic rs386833758 GRCh37 Chromosome 4, 15581712: 15581712
29 CC2D2A NM_001080522.2(CC2D2A): c.3893T> A (p.Val1298Asp) single nucleotide variant Likely pathogenic rs386833758 GRCh38 Chromosome 4, 15580089: 15580089
30 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
31 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
32 CC2D2A NM_001080522.2(CC2D2A): c.4496+2T> A single nucleotide variant Likely pathogenic rs386833762 GRCh37 Chromosome 4, 15599090: 15599090
33 CC2D2A NM_001080522.2(CC2D2A): c.4496+2T> A single nucleotide variant Likely pathogenic rs386833762 GRCh38 Chromosome 4, 15597467: 15597467
34 CC2D2A NM_001080522.2(CC2D2A): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs386833763 GRCh37 Chromosome 4, 15511840: 15511840
35 CC2D2A NM_001080522.2(CC2D2A): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs386833763 GRCh38 Chromosome 4, 15510217: 15510217
36 CC2D2A NM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs) deletion Pathogenic rs386833765 GRCh37 Chromosome 4, 15516446: 15516446
37 CC2D2A NM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs) deletion Pathogenic rs386833765 GRCh38 Chromosome 4, 15514823: 15514823
38 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh37 Chromosome 4, 15517628: 15517628
39 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh38 Chromosome 4, 15516005: 15516005
40 CC2D2A NM_001080522.2(CC2D2A): c.1017delCinsCC (p.Glu340Argfs) indel Pathogenic rs797044636 GRCh37 Chromosome 4, 15517627: 15517627
41 CC2D2A NM_001080522.2(CC2D2A): c.1017delCinsCC (p.Glu340Argfs) indel Pathogenic rs797044636 GRCh38 Chromosome 4, 15516004: 15516004
42 CC2D2A NM_001080522.2(CC2D2A): c.3975+4_3975+7delAGTA deletion Pathogenic rs386833759 GRCh37 Chromosome 4, 15581798: 15581801
43 CC2D2A NM_001080522.2(CC2D2A): c.3975+4_3975+7delAGTA deletion Pathogenic rs386833759 GRCh38 Chromosome 4, 15580175: 15580178
44 CC2D2A NM_001080522.2(CC2D2A): c.3652C> T (p.Arg1218Ter) single nucleotide variant Pathogenic rs375278294 GRCh37 Chromosome 4, 15575830: 15575830
45 CC2D2A NM_001080522.2(CC2D2A): c.3652C> T (p.Arg1218Ter) single nucleotide variant Pathogenic rs375278294 GRCh38 Chromosome 4, 15574207: 15574207
46 CC2D2A NM_001080522.2(CC2D2A): c.4179+1G> A single nucleotide variant Pathogenic rs886044295 GRCh37 Chromosome 4, 15589553: 15589553
47 CC2D2A NM_001080522.2(CC2D2A): c.4179+1G> A single nucleotide variant Pathogenic rs886044295 GRCh38 Chromosome 4, 15587930: 15587930

Expression for Meckel Syndrome, Type 6

Search GEO for disease gene expression data for Meckel Syndrome, Type 6.

Pathways for Meckel Syndrome, Type 6

GO Terms for Meckel Syndrome, Type 6

Cellular components related to Meckel Syndrome, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.96 CC2D2A WDPCP
2 cilium GO:0005929 8.62 CC2D2A WDPCP

Biological processes related to Meckel Syndrome, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.26 CC2D2A WDPCP
2 cell projection organization GO:0030030 9.16 CC2D2A WDPCP
3 smoothened signaling pathway GO:0007224 8.96 CC2D2A WDPCP
4 camera-type eye development GO:0043010 8.62 CC2D2A WDPCP

Sources for Meckel Syndrome, Type 6

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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