DCDC2 gene related symptoms and diseases
All the information presented here about the DCDC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DCDC2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Hepatomegaly | Uncommon - Between 30% and 50% cases |
| Splenomegaly | Uncommon - Between 30% and 50% cases |
| Stage 5 chronic kidney disease | Uncommon - Between 30% and 50% cases |
| Cholestasis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with DCDC2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Cirrhosis
- Sclerosing cholangitis
- Ureteral duplication
- Cholangitis
- Biliary cirrhosis
- Portal hypertension
- Shock
- Decreased liver function
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DCDC2 gene
Here you will find a list of rare diseases related to the DCDC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66
Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66
- Hearing impairment
- Sensorineural hearing impairment
More info about DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66
NEPHRONOPHTHISIS 19; NPHP19
Most common symptoms of NEPHRONOPHTHISIS 19; NPHP19
- Hepatomegaly
- Splenomegaly
- Hepatosplenomegaly
- Stage 5 chronic kidney disease
- Cholestasis
More info about NEPHRONOPHTHISIS 19; NPHP19
SOURCES: OMIM
SCLEROSING CHOLANGITIS, NEONATAL; NSC
Description
Neonatal sclerosing cholangitis is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).
Most common symptoms of SCLEROSING CHOLANGITIS, NEONATAL; NSC
- Global developmental delay
- Hearing impairment
- Hypertension
- Hepatomegaly
- Splenomegaly
More info about SCLEROSING CHOLANGITIS, NEONATAL; NSC
SOURCES: OMIM
ISOLATED NEONATAL SCLEROSING CHOLANGITIS
Description
Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.
More info about ISOLATED NEONATAL SCLEROSING CHOLANGITIS
SOURCES: ORPHANET
SENIOR-BOICHIS SYNDROME
Alternate names
SENIOR-BOICHIS SYNDROME Is also known as boichis disease, nephronophthisis-hepatic fibrosis syndrome
Description
Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.
More info about SENIOR-BOICHIS SYNDROME
SOURCES: ORPHANET
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
SOURCES: ORPHANET
Search interest in DCDC2
Potential gene panels for DCDC2 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
Liver Diseases Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panel United States.
Nephronophthisis Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Nephronophthisis Deletion/Duplication Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Renal Cystic Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel United States.
Nephronophthisis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Nephronophthisis Sequencing Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Nephronophthisis (NGS panel for 19 genes) Panel
Portugal.
By CGC Genetics Nephronophthisis (NGS panel for 19 genes) that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel Portugal.
Ciliopathies (NGS panel for 90 genes) Panel
Portugal.
By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8
More info about this panel Portugal.
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Ciliopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panel United States.
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1
More info about this panel United States.
Nephronophthisis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders NGS panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Nephronophthisis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders Comprehensive panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Nephronophthisis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders Deletion / Duplication panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Deafness, autosomal recessive type 66 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DCDC2 gene.
More info about this panel Germany.
Nephronophthisis type 19 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DCDC2 gene.
More info about this panel Germany.
Nephronophthisis Panel Panel
Germany.
By CeGaT GmbH Nephronophthisis Panel that also includes the following genes: NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 SLC41A1 TTC21B ANKS6
More info about this panel Germany.
Invitae Nephronophthisis Panel Panel
United States.
By Invitae Invitae Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 TMEM237 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 AHI1
More info about this panel United States.
Invitae Ciliopathies Panel Panel
United States.
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panel United States.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel United States.
DCDC2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DCDC2 gene.
More info about this panel United States.
Nephronophthisis Panel Panel
Finland.
By Blueprint Genetics Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel Finland.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Non-Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN
More info about this panel Finland.
Cystic Kidney Disease Panel Panel
Finland.
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panel Finland.
Cholestasis Panel Panel
Finland.
By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2
More info about this panel Finland.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
Congenital Hepatic Fibrosis Panel Panel
Finland.
By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7
More info about this panel Finland.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR WBP2 CLIC5 CDH23 CABP2
More info about this panel Spain.
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