RBM28 gene related symptoms and diseases
All the information presented here about the RBM28 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RBM28 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hyperpigmentation of the skin | Very Common - Between 80% and 100% cases |
| Ulnar deviation of the hand or of fingers of the hand | Very Common - Between 80% and 100% cases |
| Central adrenal insufficiency | Very Common - Between 80% and 100% cases |
| Ulnar deviation of the hand | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RBM28 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Adrenocorticotropic hormone deficiency
- Upper motor neuron dysfunction
- Motor deterioration
- Reduced subcutaneous adipose tissue
- Adrenal insufficiency
- Melanocytic nevus
- Gynecomastia
- Hypodontia
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RBM28 gene
Here you will find a list of rare diseases related to the RBM28. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ANE SYNDROME
Alternate names
ANE SYNDROME Is also known as ane syndrome, alopecia-progressive neurological defect-endocrinopathy syndrome
Description
ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
Most common symptoms of ANE SYNDROME
- Intellectual disability
- Short stature
- Microcephaly
- Flexion contracture
- Skeletal muscle atrophy
More info about ANE SYNDROME
Search interest in RBM28
Potential gene panels for RBM28 gene
ANE syndrome (sequence analysis of RBM28 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RBM28 gene.
More info about this panel Portugal.
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.
RBM28 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RBM28 gene.
More info about this panel United States.
ANE Syndrome , Sequencing RBM28 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RBM28 gene.
More info about this panel Spain.
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