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
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM MESH ORPHANET

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


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

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

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

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

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

CD151 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CD151 gene.

More info about this panel

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

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

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

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

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

CD151 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CD151 gene.

More info about this panel

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PINK1-AS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more