TTC21B-AS1 gene related symptoms and diseases
All the information presented here about the TTC21B-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TTC21B-AS1 gene
Symptoms // Phenotype | % Cases |
---|---|
Stage 5 chronic kidney disease | Uncommon - Between 30% and 50% cases |
Nephronophthisis | Uncommon - Between 30% and 50% cases |
Decreased nerve conduction velocity | Uncommon - Between 30% and 50% cases |
Anhidrosis | Uncommon - Between 30% and 50% cases |
Painless fractures due to injury | Uncommon - Between 30% and 50% cases |
Rare diseases associated to TTC21B-AS1 gene
Here you will find a list of rare diseases related to the TTC21B-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEPHRONOPHTHISIS 12; NPHP12
Most common symptoms of NEPHRONOPHTHISIS 12; NPHP12
- Stage 5 chronic kidney disease
- Nephronophthisis
More info about NEPHRONOPHTHISIS 12; NPHP12
SOURCES: OMIM
MORVAN SYNDROME
Alternate names
MORVAN SYNDROME Is also known as limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome, morvan's fibrillary chorea
Description
Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.
Most common symptoms of MORVAN SYNDROME
- Decreased nerve conduction velocity
- Anhidrosis
- Painless fractures due to injury
More info about MORVAN SYNDROME
SOURCES: ORPHANET
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