Hearing impairment, and Acidosis

Diseases related with Hearing impairment and Acidosis

In the following list you will find some of the most common rare diseases related to Hearing impairment and Acidosis that can help you solving undiagnosed cases.

Top matches:

Other less relevant matches:

Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS Is also known as autosomal recessive distal rta|rta, distal, autosomal recessive|ar drta|renal tubular acidosis, autosomal recessive, with preserved hearing

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 Is also known as progressive external ophthalmoplegia, autosomal dominant 2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis
  • Dementia


SOURCES: OMIM MESH MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2

GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).

GRACILE SYNDROME Is also known as growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|lactic acidosis, finnish, with hepatic hemosiderosis|fellman syndrome

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Intrauterine growth retardation
  • Acidosis
  • Neonatal hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GRACILE SYNDROME

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.

DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME Is also known as hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Peripheral neuropathy
  • Macrocephaly
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME

SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k|charcot-marie-tooth disease type 4k|surf1-related cmt4|charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k|surf1-related severe demyelinating charcot-marie-to

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd|syndromic sensorineural hearing loss due to coxpd

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT

RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Is also known as rta with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

Top 5 symptoms//phenotypes associated to Hearing impairment and Acidosis

Symptoms // Phenotype % cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Increased serum lactate Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Lactic acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Acidosis. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Peripheral neuropathy Hepatic steatosis Areflexia Growth delay Intellectual disability Distal renal tubular acidosis Muscle weakness Rickets Metabolic acidosis Nephrocalcinosis Nephrolithiasis Renal insufficiency Bilateral sensorineural hearing impairment Dehydration Sensory impairment Distal sensory impairment Distal muscle weakness Difficulty walking Skeletal muscle atrophy Kyphoscoliosis Dystonia Mitral regurgitation Nystagmus Ataxia Cutis marmorata Aortic regurgitation Peripheral demyelination Hypoglycemia Horizontal nystagmus Hypergonadotropic hypogonadism Osteopetrosis Renal tubular acidosis Cerebral calcification Stage 5 chronic kidney disease Paralysis Primary adrenal insufficiency Congenital sensorineural hearing impairment Decreased liver function Easy fatigability Pancytopenia Hepatic failure Hypogonadism Encephalopathy Hepatomegaly Demyelinating peripheral neuropathy Axonal loss Decreased nerve conduction velocity Pulmonary arterial hypertension Renal Fanconi syndrome Obesity Exercise intolerance Progressive external ophthalmoplegia Hyperthyroidism Goiter EMG: myopathic abnormalities Ragged-red muscle fibers External ophthalmoplegia Generalized muscle weakness Multiple mitochondrial DNA deletions Ophthalmoplegia Facial palsy Dementia Ptosis Hyperchloremic metabolic acidosis Osteomalacia Hypokalemia Cytochrome C oxidase-negative muscle fibers Subsarcolemmal accumulations of abnormally shaped mitochondria Intellectual disability, mild Increased serum pyruvate Optic atrophy Macrocephaly Decreased transferrin saturation Chronic lactic acidosis Elevated hepatic iron concentration Increased serum iron Increased serum ferritin Intrauterine growth retardation Severe intrauterine growth retardation Aminoaciduria Cholestasis Hepatitis Aciduria Cirrhosis Neonatal hypotonia Renal potassium wasting


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