Hepatomegaly, and Bronchiectasis

Diseases related with Hepatomegaly and Bronchiectasis

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

Top matches:

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.

ALPHA-1-ANTITRYPSIN DEFICIENCY Is also known as deficiency in alpa-1-proteinase inhibitor

Related symptoms:

  • Neoplasm
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-1-ANTITRYPSIN DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 Is also known as antibody deficiency due to taci defect|hypogammaglobulinemia due to taci deficiency

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2

Other less relevant matches:

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

High match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

High match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Bronchiectasis

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Pneumonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Immunodeficiency

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia Lymphadenopathy Lymphoma Decreased antibody level in blood Failure to thrive Diarrhea Respiratory distress Hypertension Recurrent pneumonia Carcinoma Hepatic failure Portal hypertension Recurrent respiratory infections Fever Dilatation Emphysema Growth delay Wide nasal bridge Lymphopenia Increased antibody level in blood Hepatosplenomegaly Malabsorption IgG deficiency Recurrent bacterial infections Alopecia Neutropenia Exocrine pancreatic insufficiency Hemoptysis Pectus carinatum Global developmental delay Vasculitis Elevated hepatic transaminase Abnormal lung morphology Fatigue Respiratory failure Dyspnea Recurrent sinusitis Sinusitis Abnormality of the liver

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Hearing impairment Pneumothorax Abnormality of the pancreas Pulmonary fibrosis Hypercalciuria Azoospermia Asthma Nephrocalcinosis Respiratory insufficiency Delayed puberty Blue sclerae Cough Scarring Diabetes mellitus Pain Gingival overgrowth Bronchitis Failure to thrive in infancy Hypotrichosis Hernia Atrial septal defect Hypopigmentation of the skin Epicanthus Generalized lymphadenopathy Anteverted nares Skin nodule Heart block Brachycephaly Osteolysis Delayed skeletal maturation Hyperpigmentation of the skin Severe short stature Hypothyroidism Abnormal cardiac septum morphology Edema Visual impairment Varicose veins Low-set, posteriorly rotated ears Leukopenia Plagiocephaly Joint laxity Patent ductus arteriosus Clinodactyly Short stature Hemolytic anemia Elevated erythrocyte sedimentation rate B-cell lymphoma Histiocytosis Chronic infection Panniculitis Chorioretinitis Hodgkin lymphoma Autoimmunity IgM deficiency Impaired T cell function Respiratory tract infection Cellular immunodeficiency Otitis media Pancytopenia Seizures Recurrent pharyngitis Wheezing Immune dysregulation Aplastic anemia Recurrent otitis media Weight loss Cirrhosis Non-Hodgkin lymphoma IgA deficiency Chronic obstructive pulmonary disease Meningitis Conjunctivitis Recurrent bronchitis Basal cell carcinoma Macrocytic anemia Limited elbow extension Metaphyseal dysplasia Tibial bowing Anal stenosis Femoral bowing Abnormality of the hip bone High hypermetropia Mesomelia Short thorax Hypoplasia of the odontoid process Squamous cell carcinoma Reduced natural killer cell activity Upper limb undergrowth Esophageal atresia Abnormality of chromosome stability Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Distal arthrogryposis Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Generalized joint laxity Tracheal stenosis Fair hair Metaphyseal widening Overweight Thrombocytosis Cone-shaped epiphysis Accelerated skeletal maturation Genu varum Jaundice Short palm Joint hypermobility Micromelia Joint hyperflexibility Narrow chest Arthrogryposis multiplex congenita Leukemia Sparse hair Hyperlordosis EEG abnormality Postural instability Skeletal dysplasia Macrotia Prominent forehead Constipation Hepatitis Cardiomyopathy Short neck Nephrotic syndrome Abnormality of the skeletal system Myopia Small hand Gastrointestinal hemorrhage Abnormality of pelvic girdle bone morphology Abnormality of retinal pigmentation Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Neonatal short-limb short stature Sparse eyelashes Hypocalcemia Short ribs Sparse and thin eyebrow Rhizomelia Convex nasal ridge Abnormality of epiphysis morphology Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Skin rash Lumbar hyperlordosis Abnormality of the ribs Congenital hypoplastic anemia Metaphyseal dysostosis Abnormal bone ossification Type I diabetes mellitus Lipoatrophy Microcytic anemia Hallux valgus Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Sleep apnea Elbow flexion contracture Polycythemia Hypergonadotropic hypogonadism Aspiration Gynecomastia Telangiectasia Primary amenorrhea Hypertrichosis Hypertriglyceridemia Epistaxis Epidermal acanthosis Cardiomegaly Scleroderma Episodic fever Mitral valve prolapse Hyperplasia of the maxilla Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Facial telangiectasia Myelofibrosis Corneal arcus Broad finger Severe sensorineural hearing impairment Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Nasal obstruction Decreased serum testosterone level Communicating hydrocephalus Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Bilateral sensorineural hearing impairment Overgrowth Abnormally ossified vertebrae Absent pubertal growth spurt Frontal bossing Brachydactyly Hyperreflexia Flexion contracture Ptosis Hypertelorism Generalized hypotonia Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Abnormality of humoral immunity Ventriculomegaly Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Depressed nasal bridge Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Ventricular septal defect Hydrocephalus Amenorrhea Retinopathy Decreased testicular size Wide intermamillary distance Growth hormone deficiency Full cheeks Recurrent fractures Polyneuropathy Flat face Cleft upper lip Ichthyosis Abnormality of the foot Apnea Intellectual disability, mild Abnormality of the kidney Camptodactyly Conductive hearing impairment Pes planus Proptosis Micropenis Hyperkeratosis Hypogonadism Posteriorly rotated ears Abnormal heart morphology Cholestasis Abnormality of the nasal mucosa Cognitive impairment Elevated sweat chloride Cleft palate Muscle weakness Hemiparesis Microcephaly Bone marrow hypocellularity Microscopic nephrocalcinosis Echogenic fetal bowel Cellular metachromasia Biliary tract obstruction Absent vas deferens High palate Obstructive azoospermia Recurrent bronchopulmonary infections Meconium ileus Pancreatic adenocarcinoma Productive cough Obstructive lung disease Secretory diarrhea Chronic pancreatitis Nasal polyposis Cryptorchidism Memory impairment Encephalitis Sparse scalp hair Abnormality of lipid metabolism Iron deficiency anemia Long fingers Unilateral renal agenesis Tented upper lip vermilion Cutis laxa Recurrent sinopulmonary infections Broad thumb Mitral regurgitation Pulmonary arterial hypertension Falls Renal agenesis Sepsis Tapered finger Single transverse palmar crease Pulmonic stenosis Hydronephrosis Follicular hyperplasia Gastrointestinal carcinoma Midface retrusion Kyphosis Rectal prolapse Ileus Thyroiditis Dysgammaglobulinemia Increased IgM level Posterior pharyngeal cleft Humoral immunodeficiency Autoimmune neutropenia Recurrent infection of the gastrointestinal tract Gastrointestinal stroma tumor B lymphocytopenia Lymphoproliferative disorder Autoimmune thrombocytopenia Restrictive ventilatory defect Granulomatosis Chronic otitis media Pure red cell aplasia Abnormal intestine morphology Purpura Hepatic necrosis Burkitt lymphoma Anal atresia Arthralgia Pharyngitis Vomiting Abdominal pain Biliary cirrhosis Intestinal obstruction Allergy Sarcoma Cor pulmonale Chronic lung disease Neoplasm of the pancreas Male infertility Steatorrhea Malnutrition Agammaglobulinemia Clubbing Gastroesophageal reflux Tachypnea Pancreatitis Insulin resistance Dehydration Abdominal distention Dyskinesia Nausea Infertility Lymphocytosis Hepatic encephalopathy Premature loss of teeth Prominent superficial veins Muscular hypotonia Vitreous hemorrhage Anterior uveitis Dacryocystitis Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Erythema nodosum Abnormality of the cerebrospinal fluid Cystoid macular edema Chylothorax Abnormality of the pleura Iridocyclitis Anterior synechiae of the anterior chamber Night sweats Hepatocellular carcinoma Bone cyst Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Abnormal salivary gland morphology Abnormal conjunctiva morphology Joint swelling Fulminant hepatitis Strabismus Scoliosis Recurrent upper respiratory tract infections Intellectual disability Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Increased T cell count Vitreous floaters Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Enlargement of parotid gland Posterior vitreous detachment Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Increased CSF protein Uveitis Hypoplasia of the thymus Blindness Facial palsy Arthritis Proximal muscle weakness Photophobia Glaucoma Arrhythmia Headache Renal insufficiency Congestive heart failure Skeletal muscle atrophy Papule Peripheral neuropathy Cataract Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Congenital neutropenia Giant platelets Erythema Chest pain Optic neuropathy Epiphora Keratoconjunctivitis sicca Hyperuricemia Hyperthyroidism Abnormality of the musculature Interstitial pulmonary abnormality Neoplasm of the liver Chorioretinal atrophy Blurred vision Diabetes insipidus Inflammation of the large intestine Sudden cardiac death Pleural effusion Hypercalcemia Eosinophilia Ventricular tachycardia Decreased liver function Anorexia Nephrolithiasis Subcutaneous nodule Palpitations Syncope Seborrheic keratosis


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