Hepatomegaly, and Asthma

Diseases related with Hepatomegaly and Asthma

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

Top matches:

This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PANCREATIC INSUFFICIENCY-ANEMIA-HYPEROSTOSIS SYNDROME

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Other less relevant matches:

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

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

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

High match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Asthma

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Diarrhea

Uncommon Symptoms - Between 30% and 50% cases

Recurrent respiratory infections Malabsorption Recurrent infections Abnormal facial shape Skin rash Hypertension Thrombocytopenia Erythema Chronic lung disease Nausea Cirrhosis Recurrent pneumonia Abnormal lung morphology Hepatitis Edema Growth delay Ascites Pain Abdominal pain Malnutrition Depressed nasal bridge Allergy Atrial septal defect Low-set ears

Rare Symptoms - Less than 30% cases

Myalgia Arthralgia Microcephaly Hypertelorism Hydrops fetalis Patent ductus arteriosus Hydronephrosis Papule Pruritus Abnormality of the kidney Nausea and vomiting Lymphadenopathy Kyphosis Wide mouth Portal hypertension Respiratory distress Vomiting Immunodeficiency Sinusitis Elevated hepatic transaminase Bronchiectasis Dehydration Telangiectasia Elevated erythrocyte sedimentation rate Leukopenia Respiratory tract infection Gastroesophageal reflux Short nose Headache Cutis laxa Anemia of inadequate production Intestinal obstruction Clinodactyly Frontal bossing Lymphopenia Generalized hypotonia Inflammatory abnormality of the skin Sepsis Exocrine pancreatic insufficiency Respiratory failure Neutropenia Steatorrhea Pneumonia Seizures Carious teeth Broad thumb Delayed skeletal maturation Diabetes mellitus Recurrent bacterial infections Proptosis Chronic diarrhea Arrhythmia Neoplasm Systemic lupus erythematosus Pancreatitis Purpura High palate Nephrocalcinosis Intellectual disability Hearing impairment Autoimmunity Cerebellar atrophy Long philtrum Encephalopathy Poor speech Decreased fetal movement Hip dislocation Epileptic encephalopathy Skeletal dysplasia Muscular hypotonia Wide intermamillary distance Esotropia Cognitive impairment Hepatic failure Delayed myelination Brachycephaly Abnormal cardiac septum morphology Brain atrophy Hyperreflexia Cellular immunodeficiency Absent specific antibody response Abnormality of pelvic girdle bone morphology B-cell lymphoma Recurrent lower respiratory tract infections Severe combined immunodeficiency Autoimmune thrombocytopenia IgA deficiency Autoimmune hemolytic anemia Combined immunodeficiency Recurrent upper respiratory tract infections Verrucae Eosinophilia Leukoencephalopathy Recurrent otitis media Platyspondyly Abnormality of the skeletal system Microscopic nephrocalcinosis Echogenic fetal bowel Cellular metachromasia Recurrent viral infections IgM deficiency Reduced red cell adenosine deaminase activity Recurrent opportunistic infections Anti-thyroid peroxidase antibody positivity Lack of T cell function Severe B lymphocytopenia Abnormality of humoral immunity Absent tonsils Absence of lymph node germinal center Immunoglobulin IgG2 deficiency Cortical sclerosis Tricuspid regurgitation Aplasia of the thymus Anterior rib cupping Recurrent fungal infections Diffuse mesangial sclerosis B lymphocytopenia Decrease in T cell count Pulmonary insufficiency Increased IgE level Lipodystrophy Convex nasal ridge Cutis marmorata Cleft palate Pulmonic stenosis Pectus carinatum Joint laxity Hernia Midface retrusion Respiratory insufficiency Wide nasal bridge Cryptorchidism Muscle weakness Tapered finger Sensorineural hearing impairment Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Single transverse palmar crease Renal agenesis Prolonged neonatal jaundice Varicose veins Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Congenital neutropenia Giant platelets Hypoplasia of the thymus Prominent superficial veins Premature loss of teeth Pulmonary arterial hypertension Abnormality of lipid metabolism Iron deficiency anemia Long fingers Unilateral renal agenesis Failure to thrive in infancy Tented upper lip vermilion Plagiocephaly Mitral regurgitation Sparse scalp hair Hypoplasia of the zygomatic bone Abnormality of the immune system Global brain atrophy Downslanted palpebral fissures High forehead Hyperkeratosis Prominent forehead Obesity Abnormality of metabolism/homeostasis Malar flattening Intellectual disability, mild Intellectual disability, severe Visual impairment Arachnodactyly Delayed speech and language development Ptosis Micrognathia Delayed CNS myelination Nonimmune hydrops fetalis Central hypotonia Inverted nipples Aplasia cutis congenita Pericardial effusion Genu valgum Dry skin Aplasia/Hypoplasia of the skin Bilateral single transverse palmar creases Abnormality of the hip bone Petechiae Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Reduced bone mineral density Abnormality of the fingernails Generalized hirsutism Low anterior hairline Hirsutism Skin ulcer Lymphedema Abnormality of retinal pigmentation Thin skin Depressed nasal ridge Cutaneous photosensitivity Low posterior hairline Elevated sweat chloride Palmoplantar keratoderma Biliary tract obstruction Cough Absent vas deferens Food intolerance Telangiectasia macularis eruptiva perstans Chronic leukemia Anaphylactic shock Cutaneous mastocytosis Dermatographic urticaria Mastocytosis Abnormality of the gastric mucosa Abnormal eosinophil morphology Ventricular septal defect Impaired temperature sensation Asthenia Immunologic hypersensitivity Gastrointestinal stroma tumor Hypersplenism Myeloproliferative disorder Generalized osteosclerosis Flushing Intrauterine growth retardation Short philtrum Abnormality of blood and blood-forming tissues Decreased liver function Premature skin wrinkling Dextrocardia Clitoral hypertrophy Patent foramen ovale Poor suck Deep philtrum Situs inversus totalis Wide anterior fontanel Small for gestational age Hepatic fibrosis Pancytopenia Coarctation of aorta Oligohydramnios Abnormal bleeding Triangular face Thin vermilion border Synophrys Acute leukemia Hypermelanotic macule Micronodular cirrhosis Calvarial hyperostosis Short chin Type I diabetes mellitus Dolichocephaly Camptodactyly Hypothyroidism Posteriorly rotated ears Macrocephaly Erythroid hyperplasia Relative macrocephaly Allergic rhinitis Rhinitis Abnormality of the coagulation cascade Hyperostosis Scaling skin Hyperbilirubinemia Jaundice Osteopenia Abnormal intestine morphology Prominent occiput Loss of consciousness Hypotension Urticaria Sarcoma Shock Osteolysis Bone marrow hypocellularity Bone pain Abnormal blistering of the skin Gastrointestinal hemorrhage Interstitial pneumonitis Sudden cardiac death Recurrent fractures Tachycardia Ichthyosis Leukemia Weight loss Osteoporosis Fatigue Biventricular hypertrophy Functional respiratory abnormality Obstructive azoospermia Decreased antibody level in blood Pulmonary fibrosis Emphysema Clubbing Hypercalciuria Tachypnea Azoospermia Insulin resistance Abdominal distention Bronchitis Dyskinesia Infertility Delayed puberty Scarring Abnormality of the liver Carcinoma Dilatation Orchitis Male infertility Wheezing Serositis Chronic infection Recurrent bronchopulmonary infections Meconium ileus Pancreatic adenocarcinoma Productive cough Obstructive lung disease Secretory diarrhea Chronic pancreatitis Nasal polyposis Hemoptysis Rectal prolapse Pneumothorax Ileus Biliary cirrhosis Abnormality of the pancreas Cor pulmonale Chronic obstructive pulmonary disease Neoplasm of the pancreas Recurrent meningitis Azotemia Infra-orbital crease Stage 5 chronic kidney disease Vasculitis Meningitis Osteoarthritis Myocardial infarction Nephrotic syndrome Chest pain Nephropathy Proteinuria Rheumatoid arthritis Arthritis Acidosis Constipation Renal insufficiency Fever Abnormality of glutamine metabolism Increased serum bile acid concentration Abnormality of the clitoris Chronic kidney disease Inflammation of the large intestine Renal amyloidosis Oral leukoplakia Gastrointestinal infarctions Erysipelas Congenital hypoplastic anemia Pleuritis Stiff neck Synovitis Decreased circulating aldosterone level Peritonitis Acute hepatic failure Leukocytosis Edema of the lower limbs Antinuclear antibody positivity Gout Increased serum ferritin Episodic fever Pericarditis Amyloidosis Hyperkalemia Cor triatriatum


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