CD151 gene related symptoms and diseases
All the information presented here about the CD151 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CD151 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
| Anemia | Uncommon - Between 30% and 50% cases |
| Proteinuria | Uncommon - Between 30% and 50% cases |
| Nail dystrophy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CD151 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Stage 5 chronic kidney disease
- Nephropathy
- Abnormal blistering of the skin
- Nephritis
- Lacrimal duct stenosis
- Reduced beta/alpha synthesis ratio
- Pretibial blistering
- Abnormality of the kidney
Rare diseases associated to CD151 gene
Here you will find a list of rare diseases related to the CD151. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME
Alternate names
NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME Is also known as nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome
Description
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome is a rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.
Most common symptoms of NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME
- Hearing impairment
- Sensorineural hearing impairment
- Anemia
- Proteinuria
- Nail dystrophy
More info about NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME
RAPH BLOOD GROUP SYSTEM
Alternate names
RAPH BLOOD GROUP SYSTEM Is also known as mer2 blood cell antigen expression, mer2
Most common symptoms of RAPH BLOOD GROUP SYSTEM
- Abnormality of the kidney
More info about RAPH BLOOD GROUP SYSTEM
SOURCES: OMIM
Search interest in CD151
Potential gene panels for CD151 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.
EBSeq Epidermolysis Bullosa Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EBSeq Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 KLHL24 DSP
More info about this panel United States.
CD151 Gene Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the CD151 gene.
More info about this panel United States.
CD151 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the CD151 gene.
More info about this panel United States.
EB (Epidermolysis Bullosa) Deletion/Duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EB (Epidermolysis Bullosa) Deletion/Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 DSP EXPH5
More info about this panel United States.
CD151 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CD151 gene.
More info about this panel Germany.
Syndromic deafness (NGS panel for 62 genes) Panel
Portugal.
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Syndromic Hearing Loss Panel Panel
Germany.
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Germany.
Alport Syndrome Panel Panel
Germany.
By CeGaT GmbH Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 EIF2AK3 MYH9
More info about this panel Germany.
Epidermolysis Bullosa NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epidermolysis Bullosa NGS Panel that also includes the following genes: CD151 COL17A1 COL7A1 DSP ITGA3 ITGB4 KRT14 KRT5 LAMA3 LAMB3
More info about this panel United States.
CD151 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CD151 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
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.
Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel Finland.
Alport Syndrome Panel Panel
Finland.
By Blueprint Genetics Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
More info about this panel Finland.
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