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  3. TTC21B-AS1

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.

Table of contents:

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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