Hepatomegaly, and Dyspnea

Diseases related with Hepatomegaly and Dyspnea

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


Top matches:

High match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19


Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9


Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9 Is also known as coxpd9

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9

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Other less relevant matches:

Medium match FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY


FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY Is also known as familial or idiopathic restrictive cardiomyopathy

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Fatigue
  • Dyspnea
  • Ascites


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY

Medium match LEFT VENTRICULAR NONCOMPACTION 10; LVNC10


Related symptoms:

  • Hepatomegaly
  • Respiratory distress
  • Congestive heart failure
  • Dyspnea
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3


HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3 Is also known as hyper-igm syndrome 3

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Respiratory distress
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3

Medium match FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY


Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

Medium match INTERSTITIAL LUNG AND LIVER DISEASE; ILLD


Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4


Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

Medium match X-LINKED SIDEROBLASTIC ANEMIA


X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic|xlsa|anemia, hypochromic|anemia, sideroblastic, x-linked|anh1|hereditary iron-loading anemia

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Anemia
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dyspnea

Symptoms // Phenotype % cases
Respiratory distress Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Lactic acidosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hepatomegaly and Dyspnea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Growth delay Anemia

Rare Symptoms - Less than 30% cases


Increased serum lactate Abnormality of the liver Hepatic failure Severe lactic acidosis Hepatic steatosis Fatigue Neonatal hypotonia Tachypnea Feeding difficulties Tachycardia Global developmental delay Cirrhosis Coma Muscular hypotonia Hyperammonemia Lethargy Neutropenia Metabolic acidosis Vomiting Interstitial pulmonary abnormality Encephalopathy Hypertonia Intrauterine growth retardation Spasticity Nystagmus Microcephaly Alveolar proteinosis Severe failure to thrive Cough Clubbing Respiratory failure Aminoaciduria Neonatal hyperbilirubinemia Decreased liver function Hypothyroidism Impaired gluconeogenesis Abnormal lung morphology Increased urinary glycerol Cholestasis Respiratory insufficiency Motor delay Intellectual disability Splenomegaly Muscular hypotonia of the trunk Hyperpigmentation of the skin Hypolipidemia Abnormality of iron homeostasis Sideroblastic anemia Hypocholesterolemia Hypochromic microcytic anemia Anemia of inadequate production Megaloblastic anemia Macrocytic anemia Microcytic anemia Glucose intolerance Myelodysplasia Falls Developmental regression Vertigo Pallor Hepatosplenomegaly Neonatal hypoglycemia Muscle weakness Ataxia Abnormality of brain morphology Progressive encephalopathy Opisthotonus Leukodystrophy Premature birth Polymicrogyria Ketosis Impaired Ig class switch recombination Hyperventilation Cardiomyopathy Abnormal ventricular filling Increased pulmonary vascular resistance Peripheral edema Abnormal left ventricle morphology Tricuspid regurgitation Heart murmur Palpitations Atrial fibrillation Ascites Hyperalaninemia Hypertrophic cardiomyopathy Gastroesophageal reflux Dilated cardiomyopathy Renal tubular dysfunction Hemiplegia/hemiparesis Pancreatitis Choreoathetosis Chorea Sepsis Nausea and vomiting Thrombocytopenia Renal insufficiency Dystonia Optic atrophy Congestive heart failure Syncope Drowsiness IgG deficiency Hyperuricemia Hyperbilirubinemia Irritability Apnea Hypoglycemia Fever Seizures Impaired memory B cell generation IgE deficiency Absence of lymph node germinal center Increased IgM level IgA deficiency Cardiomegaly Recurrent bacterial infections Decreased antibody level in blood Pneumonia Immunodeficiency Ventricular flutter Left ventricular noncompaction cardiomyopathy Oliguria Pulmonary edema Abnormal myocardium morphology Left ventricular noncompaction Left ventricular hypertrophy Thiamine-responsive megaloblastic anemia



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