P4HA1 gene related symptoms and diseases
All the information presented here about the P4HA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to P4HA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Nephrolithiasis | Very Common - Between 80% and 100% cases |
| Hyperextensible skin | Very Common - Between 80% and 100% cases |
| Recurrent skin infections | Very Common - Between 80% and 100% cases |
| Adducted thumb | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with P4HA1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cutis laxa
- Microretrognathia
- Joint dislocation
- Narrow palate
- Horseshoe kidney
- Low anterior hairline
- Exotropia
- Large fontanelles
And 94 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to P4HA1 gene
Here you will find a list of rare diseases related to the P4HA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
Alternate names
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds, arthrogryposis, distal, with peculiar facies and hydronephrosis, adducted thumb-clubfoot syndrome, ehlers-danlos syndrome, type vib, formerly, atcs, adducted thumb, clubfoot, and progressive joint and skin laxity syndrome, eds6b, formerly, dundar syndrome
Description
Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
Most common symptoms of EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
Search interest in P4HA1
Potential gene panels for P4HA1 gene
P4HA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the P4HA1 gene.
More info about this panel United States.
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