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  2. Rare Disease Genes
  3. MT-ATP8

MT-ATP8 gene related symptoms and diseases

All the information presented here about the MT-ATP8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to MT-ATP8 gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Atrioventricular block Uncommon - Between 30% and 50% cases
Basal ganglia calcification Uncommon - Between 30% and 50% cases
Bundle branch block Uncommon - Between 30% and 50% cases
Adrenal insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MT-ATP8 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Hemiplegia/hemiparesis
  • Ophthalmoparesis
  • Abnormality of mitochondrial metabolism
  • Bilateral ptosis
  • Nasal speech
  • Incoordination
  • Ventricular arrhythmia
  • Primary adrenal insufficiency

And 87 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MT-ATP8 gene

Here you will find a list of rare diseases related to the MT-ATP8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KEARNS-SAYRE SYNDROME

Alternate names

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy, cpeo with myopathy, oculocraniosomatic syndrome, ophthalmoplegia, progressive external, with ragged-red fibers, cpeo with ragged-red fibers, chronic progressive external ophthalmoplegia wi

Description

Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

Most common symptoms of KEARNS-SAYRE SYNDROME

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about KEARNS-SAYRE SYNDROME

SOURCES: OMIM MESH ORPHANET

ISOLATED ATP SYNTHASE DEFICIENCY

Alternate names

ISOLATED ATP SYNTHASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex v deficiency

Description

Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).


More info about ISOLATED ATP SYNTHASE DEFICIENCY

SOURCES: ORPHANET

PERIODIC PARALYSIS WITH LATER-ONSET DISTAL MOTOR NEUROPATHY

Description

Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.


More info about PERIODIC PARALYSIS WITH LATER-ONSET DISTAL MOTOR NEUROPATHY

SOURCES: ORPHANET



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