Hepatomegaly, and Cough

Diseases related with Hepatomegaly and Cough

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

Top matches:

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

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

Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

Other less relevant matches:

Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary HypertensionPPH2 (OMIM ) is caused by mutation in the SMAD9 gene (OMIM ) on chromosome 13q13; PPH3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ) on chromosome 7q31; and PPH4 (OMIM ) is caused by mutation in the KCNK3 gene (OMIM ) on chromosome 2p23.See {265400} for a possible autosomal recessive form of PPH.Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1 ), caused by mutation in the ENG gene (OMIM ), and HHT2 (OMIM ), caused by mutation in the ACVRL1 (ALK1) gene (OMIM ).

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 Is also known as pulmonary arterial hypertension|pht|pah

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

High match MAJEED SYNDROME

Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

SICKLE CELL ANEMIA Is also known as sickle cell disease

Related symptoms:

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SICKLE CELL ANEMIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Cough

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Chest pain Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abdominal pain Edema Dyspnea Anemia Respiratory distress Lymphadenopathy Diarrhea Generalized hypotonia Hemoptysis Abnormal lung morphology Bone pain Skin rash Respiratory insufficiency Fatigue Hypertension Weight loss Rigidity Ascites

Rare Symptoms - Less than 30% cases

Peripheral neuropathy Poor appetite Glomerulopathy Ataxia Leukemia Pruritus Lymphoma Bone marrow hypocellularity Night sweats Proteinuria Congestive heart failure Pneumonia Hematuria Flexion contracture Reticulocytosis Nephropathy Hemolytic anemia Jaundice Renal insufficiency Recurrent bacterial infections Leukocytosis Pleural effusion Right ventricular hypertrophy Cerebral palsy Ventricular hypertrophy Cardiomegaly Arthralgia Myalgia Respiratory failure Hypotension Vomiting Lactic acidosis Inflammatory abnormality of the skin Hepatic steatosis Cholestasis Hepatosplenomegaly Cirrhosis Neoplasm Hepatic failure Motor delay Axial muscle weakness Chronic hemolytic anemia Malignant hyperthermia Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Unconjugated hyperbilirubinemia Thoracolumbar scoliosis Cor pulmonale Restrictive deficit on pulmonary function testing Abnormality of the rib cage Respiratory arrest Minicore myopathy Pure red cell aplasia Reduced vital capacity Peroneal muscle atrophy Muscle fiber necrosis Abnormality of skeletal morphology Limited neck flexion Nocturnal hypoventilation Orthopnea Crackles Hamstring contractures Persistence of hemoglobin F Increased lactate dehydrogenase activity Abnormal lactate dehydrogenase activity Elbow flexion contracture Neonatal hypotonia Proximal muscle weakness Facial palsy Apnea Hyperlordosis Muscular dystrophy Abnormality of the cerebral white matter Arthrogryposis multiplex congenita Limb muscle weakness Generalized muscle weakness Waddling gait Progressive muscle weakness Poor head control Cardiac conduction abnormality Nasal speech Gowers sign Congenital muscular dystrophy Pigment gallstones Increased variability in muscle fiber diameter High pitched voice Generalized amyotrophy Spinal rigidity Hip contracture Neck muscle weakness Hypoventilation Priapism Hypochromic anemia Autoimmunity Seizures Osteoporosis Obstructive lung disease Increased mean corpuscular volume Atelectasis Small vessel vasculitis Intellectual disability Asplenia Elevated serum creatinine Abnormality of the vasculature Recurrent infections Thrombocytosis Aseptic necrosis Abnormality of the nervous system Immunologic hypersensitivity Irritability Retinopathy Stroke Confusion Sepsis Tachypnea Cholelithiasis Osteomyelitis Iron deficiency anemia Microcytic anemia Myeloid leukemia Episcleritis Complement deficiency Sensorineural hearing impairment Abnormal hemoglobin Chronic myelogenous leukemia Arthritis Wheezing Nausea and vomiting Microalbuminuria Sensory neuropathy Meningitis Vasculitis Conjunctivitis Joint dislocation Cranial nerve paralysis Reduced tendon reflexes Angioedema Urticaria Nephritis Abnormality of the spleen Hemiplegia/hemiparesis Emphysema Left ventricular failure Restrictive ventilatory defect Pericardial effusion Abnormal heart valve morphology Irregular hyperpigmentation Hypoxemia Uveitis Inflammatory abnormality of the eye Growth delay Hyporeflexia Cellular immunodeficiency Constitutional symptom Malignant mesothelioma Obstruction of the superior vena cava Pleural mesothelioma Peritoneal mesothelioma Pericardial mesothelioma Hyperhidrosis Migraine Anorexia Osteolysis Hodgkin lymphoma Lung adenocarcinoma Functional respiratory abnormality Monoclonal immunoglobulin M proteinemia Impaired lymphocyte transformation with phytohemagglutinin Polyclonal elevation of IgM Recurrent respiratory infections Vertigo Sudden cardiac death Cyanosis Pulmonary arterial hypertension Epistaxis Palpitations Telangiectasia Hoarse voice Fourth cranial nerve palsy Abnormality of cardiovascular system physiology Acrocyanosis Acidosis Gastroesophageal reflux Otitis media Eczema Pancytopenia Recurrent otitis media Increased body weight Severe combined immunodeficiency Decrease in T cell count Oral ulcer Recurrent opportunistic infections Failure to thrive secondary to recurrent infections Hypothyroidism Elevated hepatic transaminase Abnormality of the pleura Abnormality of the liver Decreased liver function Aminoaciduria Clubbing Interstitial pulmonary abnormality Severe failure to thrive Alveolar proteinosis Dysphagia Nausea Abnormality of the thorax Oral-pharyngeal dysphagia Intestinal obstruction Scleroderma Capillary hemangioma Myopathy Hypochromic microcytic anemia Headache Papule Malabsorption Increased bone mineral density Cachexia Increased susceptibility to fractures Metaphyseal irregularity Acne Pustule Pulmonary infiltrates Microscopic hematuria Synovitis Increased red cell osmotic fragility Congenital hypoplastic anemia Abnormality of bone marrow cell morphology Chronic recurrent multifocal osteomyelitis Abnormal inflammatory response Global developmental delay Short stature Scoliosis Muscle weakness Muscular hypotonia High palate Skeletal muscle atrophy Cardiomyopathy Increased intracellular sodium Congenital hemolytic anemia Edema of the lower limbs Respiratory tract infection Abnormal thrombosis Right ventricular failure Abnormal tricuspid valve morphology Spontaneous, recurrent epistaxis Increased pulmonary vascular resistance Hemangiomatosis Pulmonary capillary hemangiomatosis Elevated right atrial pressure Arterial intimal fibrosis Pulmonary arterial medial hypertrophy Pulmonary aterial intimal fibrosis Pulmonary artery vasoconstriction Pallor Sideroblastic anemia Dehydration Hydrops fetalis Hyperbilirubinemia Brittle hair Abnormality of mitochondrial metabolism Pulmonary fibrosis Increased antibody level in blood Anisocytosis Spherocytosis Poikilocytosis Stomatocytosis Intermittent jaundice Increased red cell sickling tendency


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