Meacham Syndrome
Description
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.
Clinical Features
Top most frequent phenotypes and symptoms related to Meacham Syndrome
- Neoplasm
- Cryptorchidism
- Ventricular septal defect
- Atrial septal defect
- Hernia
- Patent ductus arteriosus
- Abnormal heart morphology
- Tetralogy of Fallot
- Ambiguous genitalia
- Hypoplasia of penis
And another 24 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
Meacham Syndrome Is also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, meacham-winn-culler syndrome.
Researches and researchers
Doctors, researchs, and experts related to Meacham Syndrome extracted from public data.
Meacham Syndrome Experts map
Current Researchs and researchers
-
Investigator of research project - Manager of registryHAMBURG — Dr Anja LEHNHARDT
-
Institution/s:
— UKE - Universitätsklinikum Hamburg-Eppendorf -
Research area/topic::
Genotype-phenotype correlation of patients with WT1 gene mutation
-
Institution/s:
Meacham Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SDHA, SDHB, SDHC, SDHD, VHL, WT1, CDKN1C, SDHAF2, FLCN, FH, GPC3, MET, PTEN
Specificity
8 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)
View the complete list with 39 more genes
Specificity
2 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
WT1, NPHS2, PLCE1, LAMB2, NPHS1
Specificity
20 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
WT1
Specificity
100 %
Genes
100 % |
![]() By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
WT1
Specificity
100 %
Genes
100 % |
![]() By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
WT1
Specificity
100 %
Genes
100 % |
![]() By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)
View the complete list with 32 more genes
Specificity
2 %
Genes
100 % |
You can get up to 163 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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