HNRNPK gene related symptoms and diseases
All the information presented here about the HNRNPK 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 HNRNPK gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Open mouth | Uncommon - Between 30% and 50% cases |
| Poor speech | Uncommon - Between 30% and 50% cases |
| Long face | Uncommon - Between 30% and 50% cases |
| Postaxial polydactyly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HNRNPK gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Downturned corners of mouth
- Underdeveloped nasal alae
- Wide intermamillary distance
- Hip dysplasia
- Sacral dimple
- Neurological speech impairment
- Bicuspid aortic valve
- Oligodontia
And 27 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HNRNPK gene
Here you will find a list of rare diseases related to the HNRNPK. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION
Alternate names
NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome
Most common symptoms of NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Pain
More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION
NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO 9Q21 MICRODELETION
Alternate names
NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO 9Q21 MICRODELETION Is also known as del(9)(q21), 9q21 microdeletion syndrome
More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO 9Q21 MICRODELETION
SOURCES: ORPHANET
Search interest in HNRNPK
Potential gene panels for HNRNPK gene
Kabuki syndrome NGS test Panel
United States.
By Connective Tissue Gene Tests Kabuki syndrome NGS test that also includes the following genes: KDM6A RAB1B HNRNPK KMT2D RAP1A
More info about this panel United States.
Kabuki syndrome Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Kabuki syndrome Comprehensive test that also includes the following genes: KDM6A RAB1B HNRNPK KMT2D RAP1A
More info about this panel United States.
Kabuki syndrome Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Kabuki syndrome Deletion / Duplication test that also includes the following genes: KDM6A RAB1B HNRNPK KMT2D RAP1A
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
HNRNPK Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HNRNPK gene.
More info about this panel United States.
KABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL KABUKI/KABUKI-LIKE SYNDROME NGS PANEL that also includes the following genes: SIX1 SIX5 KDM6A MACROD2 CHD7 KDM1A EYA1 FLNB HNRNPK IRF6
More info about this panel Spain.
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