BMS1 gene related symptoms and diseases
All the information presented here about the BMS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BMS1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Syndactyly | Very Common - Between 80% and 100% cases |
| Calvarial skull defect | Very Common - Between 80% and 100% cases |
| Congenital localized absence of skin | Very Common - Between 80% and 100% cases |
| Unilateral facial palsy | Very Common - Between 80% and 100% cases |
| Abnormality of bone mineral density | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with BMS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lop ear
- Spinal dysraphism
- Aplasia cutis congenita of scalp
- Aplasia cutis congenita
- Polydactyly
- Prolonged bleeding time
- Preaxial polydactyly
- Skin ulcer
And 5 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BMS1 gene
Here you will find a list of rare diseases related to the BMS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
APLASIA CUTIS CONGENITA
Alternate names
APLASIA CUTIS CONGENITA Is also known as scalp defect, congenital, congenital defect of skull and scalp
Description
Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.
Most common symptoms of APLASIA CUTIS CONGENITA
- Syndactyly
- Polydactyly
- Facial palsy
- Anal atresia
- Pulmonary hypoplasia
More info about APLASIA CUTIS CONGENITA
Search interest in BMS1
Potential gene panels for BMS1 gene
BMS1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BMS1 gene.
More info about this panel United States.
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