Hearing impairment, and Hepatic steatosis

Diseases related with Hearing impairment and Hepatic steatosis

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

Top matches:

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

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

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

Other less relevant matches:

Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 16; BBS16

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27 Is also known as coxpd27

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Top 5 symptoms//phenotypes associated to Hearing impairment and Hepatic steatosis

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Decreased liver function Abnormality of the liver Hepatomegaly Intellectual disability Hepatic failure Lactic acidosis Cholestasis Recurrent infections

Rare Symptoms - Less than 30% cases

Growth delay Insulin resistance Hypertriglyceridemia Renal insufficiency Diabetes mellitus Encephalopathy Hypogonadism Increased serum lactate Myopathy Obesity Areflexia Progressive muscle weakness Cerebral atrophy Microcephaly Skeletal muscle atrophy Full cheeks Short stature Frontal bossing Muscle weakness Intrauterine growth retardation Cirrhosis Immunodeficiency Arthralgia Multifocal epileptiform discharges Hypertension Alopecia Neonatal hypotonia Proteinuria Microvesicular hepatic steatosis Autoimmunity Hirsutism Hematuria Nephropathy Nephrotic syndrome Acidosis Hypertrichosis Decreased activity of mitochondrial respiratory chain Decreased antibody level in blood Generalized hirsutism Chorea Cerebellar hypoplasia Myoclonus Cerebral cortical atrophy Mental deterioration Abnormality of movement Neurodegeneration Brain atrophy Ragged-red muscle fibers Epileptic encephalopathy Generalized-onset seizure Status epilepticus Tetraparesis Postnatal microcephaly Severe muscular hypotonia Opisthotonus Lipodystrophy Polycystic ovaries Exercise intolerance Proximal muscle weakness Myalgia Distal muscle weakness Ichthyosis Waddling gait Fasciculations Hyperlipidemia Elevated serum creatine phosphokinase Easy fatigability Psoriasiform dermatitis Gowers sign Difficulty running Neck muscle weakness Progressive proximal muscle weakness Difficulty walking Congestive heart failure Dystonia Progeroid facial appearance Premature ovarian insufficiency Glomerulonephritis Lipoatrophy Glomerulopathy Abnormality of lipid metabolism Microscopic hematuria Lymphocytosis Cardiomyopathy Membranoproliferative glomerulonephritis Decreased serum complement C3 Loss of truncal subcutaneous adipose tissue Progressive loss of facial adipose tissue Loss of subcutaneous adipose tissue from upper limbs Pain Fatigue Aciduria Hypoplasia of the corpus callosum Cerebellar atrophy Long toe Delayed gross motor development Abnormality of the coagulation cascade Long fingers Microcytic anemia Macrocytic anemia Acute hepatic failure Spasticity Elevated hepatic iron concentration Hydronephrosis Joint laxity Postnatal growth retardation Round face CNS hypomyelination Hyperextensible skin Increased serum iron Anemia Cognitive impairment Hepatosplenomegaly Leukopenia Prolonged neonatal jaundice Micronodular cirrhosis Hypermetropia Vomiting Abnormality of the nervous system Jaundice Chronic lactic acidosis Hypoglycemia Pancytopenia Hypergonadotropic hypogonadism Congenital sensorineural hearing impairment Primary adrenal insufficiency Splenomegaly Decreased transferrin saturation Renal Fanconi syndrome Respiratory distress Recurrent bacterial infections Hepatitis Macrocephaly Atrial septal defect Aminoaciduria Pulmonic stenosis Poor speech Coarctation of aorta Hyperbilirubinemia Delayed speech and language development Secundum atrial septal defect Portal fibrosis Hypermethioninemia Narrow foot Feeding difficulties Visual impairment Severe intrauterine growth retardation Increased serum ferritin Increased serum pyruvate Stage 5 chronic kidney disease Recurrent respiratory infections Rod-cone dystrophy Polydactyly Conductive hearing impairment Respiratory tract infection Retinal degeneration Renal cyst Hypertelorism Asthma Renal agenesis Recurrent otitis media Renal dysplasia Tricuspid regurgitation External genital hypoplasia Bronchiolitis Increased muscle lipid content


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