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.

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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. Genetic Heterogeneity of Alzheimer DiseaseAlzheimer disease is a genetically heterogeneous disorder. See also AD2 (OMIM ), associated with the APOE*4 allele (OMIM ) on chromosome 19; AD3 (OMIM ), caused by mutation in the presenilin-1 gene (PSEN1 ) on 14q; and AD4 (OMIM ), caused by mutation in the PSEN2 gene (OMIM ) on 1q31.There is evidence for additional AD loci on other chromosomes; see AD5 (OMIM ) on 12p11, AD6 (OMIM ) on 10q24, AD7 (OMIM ) on 10p13, AD8 (OMIM ) on 20p, AD9 (OMIM ), associated with variation in the ABCA7 gene (OMIM ) on 19p13, AD10 (OMIM ) on 7q36, AD11 (OMIM ) on 9q22, AD12 (OMIM ) on 8p12-q22, AD13 (OMIM ) on 1q21, AD14 (OMIM ) on 1q25, AD15 (OMIM ) on 3q22-q24, AD16 (OMIM ) on Xq21.3, AD17 (OMIM ) on 6p21.2, and AD18 (OMIM ), associated with variation in the ADAM10 gene (OMIM ) on 15q21.Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (OMIM ).Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1 ), the transferrin gene (TF ), the hemochromatosis gene (HFE ), the NOS3 gene (OMIM ), the vascular endothelial growth factor gene (VEGF ), the ABCA2 gene (OMIM ), and the TNF gene (OMIM ) (see MOLECULAR GENETICS).

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

SOURCES: MESH ORPHANET OMIM

RENAL TUBULAR DYSGENESIS OF GENETIC ORIGIN



More info about RENAL TUBULAR DYSGENESIS OF GENETIC ORIGIN

SOURCES: ORPHANET




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