MT-ATP6 gene related symptoms and diseases

All the information presented here about the MT-ATP6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MT-ATP6 gene

Symptoms // Phenotype % Cases
Babinski sign Uncommon - Between 30% and 50% cases
Optic atrophy Uncommon - Between 30% and 50% cases
Global developmental delay Rare - less than 30% cases
Cardiomyopathy Rare - less than 30% cases
Arrhythmia Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with MT-ATP6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Visual loss
  • Difficulty walking
  • Headache
  • Dystonia
  • Gait ataxia
  • Myopathy
  • Blindness
  • Constriction of peripheral visual field

And 133 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MT-ATP6 gene

Here you will find a list of rare diseases related to the MT-ATP6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NARP SYNDROME


Alternate names

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome, neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome, narp syndrome

Description

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

Most common symptoms of NARP SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about NARP SYNDROME

SOURCES: ORPHANET OMIM MESH

MITOCHONDRIAL DNA-ASSOCIATED LEIGH SYNDROME


Alternate names

MITOCHONDRIAL DNA-ASSOCIATED LEIGH SYNDROME Is also known as maternally-inherited infantile subacute necrotizing encephalopathy, mtdna-associated leigh syndrome, mils, maternally-inherited leigh disease

Description

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.


More info about MITOCHONDRIAL DNA-ASSOCIATED LEIGH SYNDROME

SOURCES: ORPHANET

FAMILIAL INFANTILE BILATERAL STRIATAL NECROSIS


Alternate names

FAMILIAL INFANTILE BILATERAL STRIATAL NECROSIS Is also known as familial ibsn, familial infantile striatonigral necrosis, familial infantile striatonigral degeneration

Description

Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.


More info about FAMILIAL INFANTILE BILATERAL STRIATAL NECROSIS

SOURCES: ORPHANET

LEBER HEREDITARY OPTIC NEUROPATHY


Alternate names

LEBER HEREDITARY OPTIC NEUROPATHY Is also known as leber optic atrophy, lhon, leber hereditary optic neuropathy

Description

Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.

Most common symptoms of LEBER HEREDITARY OPTIC NEUROPATHY

  • Ataxia
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Tremor


More info about LEBER HEREDITARY OPTIC NEUROPATHY

SOURCES: OMIM ORPHANET

STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL


Alternate names

STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL Is also known as bilateral striatal necrosis, infantile, mitochondrial, infantile bilateral striatal necrosis, mitochondrial

Most common symptoms of STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Babinski sign
  • Difficulty walking


More info about STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

SOURCES: OMIM MESH

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

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA


Alternate names

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia, maternally-inherited spg

Description

MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

Most common symptoms of MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

  • Hyperreflexia
  • Optic atrophy
  • Cardiomyopathy
  • Babinski sign
  • Diabetes mellitus


More info about MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

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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