PPP1CB gene related symptoms and diseases
All the information presented here about the PPP1CB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PPP1CB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hypocalcemia | Very Common - Between 80% and 100% cases |
| Failure to thrive in infancy | Very Common - Between 80% and 100% cases |
| Patent foramen ovale | Very Common - Between 80% and 100% cases |
| Nasal speech | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PPP1CB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Deep philtrum
- Relative macrocephaly
- Coarse hair
- Optic nerve hypoplasia
- Increased intracranial pressure
- Arnold-Chiari malformation
- Infantile muscular hypotonia
- Abnormal palate morphology
And 107 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PPP1CB gene
Here you will find a list of rare diseases related to the PPP1CB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
Alternate names
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah, tosti syndrome
Description
Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.
Most common symptoms of NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
Search interest in PPP1CB
Potential gene panels for PPP1CB gene
Rasopathy NextGen Panel Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Rasopathy NextGen Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
Expanded RASopathy Panel (14 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Expanded RASopathy Panel (14 Genes) that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2
More info about this panel United States.
Noonan syndrome/RASopathy Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Noonan syndrome/RASopathy Disorders Panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1 HRAS
More info about this panel United States.
Noonan spectrum disorder Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Noonan spectrum disorder Comprehensive panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
Noonan spectrum disorder Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Noonan spectrum disorder Deletion / Duplication panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
Noonan spectrum disorder NGS panel Panel
United States.
By Connective Tissue Gene Tests Noonan spectrum disorder NGS panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
PPP1CB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PPP1CB gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Noonan Syndrome Panel Panel
Finland.
By Blueprint Genetics Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel Finland.
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