Meckel Syndrome, Type 2; Mks2
Description
Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Meckel Syndrome, Type 2; Mks2
- Growth delay
- Cleft palate
- Intrauterine growth retardation
- Microphthalmia
- Polydactyly
- Postaxial polydactyly
- Renal cyst
- Dandy-Walker malformation
- Postaxial hand polydactyly
- Encephalocele
And another 6 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Meckel Syndrome, Type 2; Mks2 Is also known as meckel-gruber syndrome, type 2.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Meckel Syndrome, Type 2; Mks2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
GeneAware Ashkenazi Jewish Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)
View the complete list with 19 more genes
Specificity
3 %
Genes
100 % |
GeneAware Ashkenazi Jewish Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
TMEM216 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
TMEM216
Specificity
100 %
Genes
100 % |
Joubert Syndrome Evaluation.
By Athena Diagnostics Inc (United States).
AHI1, TMEM216, TMEM67, CEP290, CC2D2A, NPHP1
Specificity
17 %
Genes
100 % |
Ashkenazi Jewish Carrier Screening Panel.
By Center for Human Genetics, Inc (United States).
BLM, SMPD1, CLRN1, MCOLN1, PCDH15, TMEM216, DLD, F11, FANCC, FKTN, G6PC, GBA, HEXA, ABCC8, ELP1, ASPA, NEB, BCKDHB
Specificity
6 %
Genes
100 % |
Ciliopathies.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
You can get up to 103 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI PEROXISOME BIOGENESIS DISORDER 1B; PBD1B