ACE gene related symptoms and diseases
All the information presented here about the ACE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACE gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Abnormality of the cardiovascular system | Uncommon - Between 30% and 50% cases |
Flexion contracture | Uncommon - Between 30% and 50% cases |
Skeletal muscle atrophy | Uncommon - Between 30% and 50% cases |
Fatigue | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ACE gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Myopathy
- Renal insufficiency
- Elevated serum creatine phosphokinase
- Respiratory failure
- Myalgia
- Muscle cramps
- Progressive muscle weakness
- Muscle weakness
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACE gene
Here you will find a list of rare diseases related to the ACE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALZHEIMER DISEASE; AD
Alternate names
ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia
Description
Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease.
Most common symptoms of ALZHEIMER DISEASE; AD
- Intellectual disability
- Seizures
- Spasticity
- Cognitive impairment
- Edema
More info about ALZHEIMER DISEASE; AD
SOURCES: OMIM
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY
Alternate names
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as glycogen storage disease type 5, myophosphorylase deficiency, glycogen storage disease type v, muscle glycogen phosphorylase deficiency, gsd due to muscle glycogen phosphorylase deficiency, mcardle disease, gsd type v, glycogenosis type 5, glycogenosis type v, gsd
Description
Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.
Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY
- Muscle weakness
- Pain
- Flexion contracture
- Skeletal muscle atrophy
- Fatigue
More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY
RENAL TUBULAR DYSGENESIS OF GENETIC ORIGIN
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