Hepatomegaly, and Gastroesophageal reflux

Diseases related with Hepatomegaly and Gastroesophageal reflux

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).

ISOLATED POLYCYSTIC LIVER DISEASE Is also known as pcld|autosomal dominant polycystic liver disease|adpcld

Related symptoms:

  • Hepatomegaly
  • Respiratory insufficiency
  • Dilatation
  • Abdominal pain
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED POLYCYSTIC LIVER DISEASE

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

Other less relevant matches:

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

High match REYNOLDS SYNDROME

Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

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

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

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Top 5 symptoms//phenotypes associated to Hepatomegaly and Gastroesophageal reflux

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Gastrointestinal hemorrhage Uncommon - Between 30% and 50% cases
Ascites Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Diarrhea Splenomegaly Neoplasm Skin rash Abnormality of the liver Cognitive impairment Pain Dilatation Elevated hepatic transaminase Dysphagia Cirrhosis Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Hearing impairment Edema Tetraplegia Weight loss Steatorrhea Seizures Nausea and vomiting Hypertension Asthma Malabsorption Nausea Muscular hypotonia Generalized hypotonia Motor delay Severe global developmental delay Telangiectasia Optic atrophy Pruritus Myalgia Hyperreflexia Fatigue Spasticity Arrhythmia Abnormality of the cerebral white matter Cataract Biliary cirrhosis Cardiomegaly Urinary incontinence Abnormality of the gastric mucosa Hypertrophic cardiomyopathy Nystagmus Carcinoma Portal hypertension Lymphadenopathy Feeding difficulties Respiratory distress Acidosis Recurrent infections Abdominal distention Recurrent pneumonia Elevated alkaline phosphatase Abnormality of the pancreas Fever Hepatosplenomegaly Cough Allergy Nasal polyposis Delayed speech and language development Tachypnea Ataxia Azoospermia Bronchitis Pancreatitis Nephrocalcinosis Wheezing Sinusitis Insulin resistance Bronchiectasis Hypercalciuria Abnormal lung morphology Chronic obstructive pulmonary disease Dehydration Decreased antibody level in blood Dysarthria Dyskinesia Chronic lung disease Hemoptysis Exocrine pancreatic insufficiency Cardiomyopathy Myopathy Microcephaly Cor pulmonale Chronic infection Absent vas deferens Chronic pancreatitis Male infertility Secretory diarrhea Obstructive lung disease Productive cough Malnutrition Pancreatic adenocarcinoma Pulmonary fibrosis Meconium ileus Recurrent bronchopulmonary infections Obstructive azoospermia Elevated sweat chloride Clubbing Biliary tract obstruction Cellular metachromasia Rectal prolapse Echogenic fetal bowel Microscopic nephrocalcinosis Neoplasm of the pancreas Pneumothorax Short stature Ileus Emphysema Intestinal obstruction Dystonia Neurodegeneration Cerebral atrophy Myoclonus Apnea Coarse facial features Skeletal dysplasia Osteopenia Autism Cerebral cortical atrophy Cerebellar hypoplasia Congenital cataract Constipation Blindness Intellectual disability, severe Peripheral neuropathy Strabismus Scoliosis Developmental regression Vertigo Progressive forgetfulness Diffuse white matter abnormalities Oligosacchariduria Long-tract signs Angiokeratoma corporis diffusum Progressive psychomotor deterioration Angiokeratoma Vascular skin abnormality Psychomotor deterioration Thick vermilion border Vegetative state Generalized amyotrophy Clonus Cerebral visual impairment Lymphedema Generalized-onset seizure Generalized myoclonic seizures Intellectual disability Hyperchloremic acidosis Encephalopathy Abnormality of movement Neutropenia Metabolic acidosis Delayed puberty Confusion Unsteady gait Paraplegia Spastic paraplegia Progressive cerebellar ataxia Dilated cardiomyopathy Hypoglycemia Gait ataxia Hyperactivity Dementia Visual loss Coma Aciduria Testicular dysgenesis Leukoencephalopathy Nonprogressive cerebellar ataxia 3-Methylglutaconic aciduria Abnormality of the basal ganglia Skeletal myopathy Short attention span Athetosis Spastic tetraparesis Febrile seizures Spastic paraparesis Paraparesis Limb ataxia Choreoathetosis Spastic tetraplegia Progressive visual loss Memory impairment Infertility Hypermelanotic macule Scarring Plantar hyperkeratosis Palmoplantar hyperkeratosis Poor suck Oral-pharyngeal dysphagia Squamous cell carcinoma Poor appetite Parakeratosis Abnormality of the mouth Hiatus hernia Esophagitis Follicular hyperkeratosis Oral leukoplakia Hypergranulosis Stomach cancer Esophageal stricture Clubbing of toes Epidermal acanthosis Limb muscle weakness Diaphragmatic weakness Abnormality of refraction Bowel incontinence Progressive muscle weakness Left ventricular hypertrophy Macroglossia Elevated serum creatine phosphokinase Abnormality of the mediastinum Esophageal leukoplakia Abnormal large intestine morphology Abnormality of esophagus physiology Esophageal carcinoma Esophageal neoplasm Diffuse palmoplantar hyperkeratosis Thickened skin Ectodermal dysplasia Abnormality of lysosomal metabolism Hepatic cysts Neonatal hypotonia Lactic acidosis Hepatic steatosis Severe lactic acidosis Abnormality of the nervous system Abnormality of the kidney Feeding difficulties in infancy Renal cyst Abnormality of the cardiovascular system Back pain Polycystic kidney dysplasia Cerebral hemorrhage Multiple renal cysts Abnormality of the respiratory system Increased total bilirubin Postural instability Decrease in T cell count Palmoplantar keratoderma Hyperkeratosis Hernia Failure to thrive secondary to recurrent infections Recurrent opportunistic infections Oral ulcer Severe combined immunodeficiency Polycystic liver disease Increased body weight Recurrent otitis media Inflammatory abnormality of the skin Pancytopenia Eczema Otitis media Increased muscle glycogen content Jaundice Respiratory tract infection Gastrointestinal stroma tumor Bone pain Bone marrow hypocellularity Osteolysis Leukopenia Shock Sarcoma Urticaria Loss of consciousness Abnormality of blood and blood-forming tissues Acute leukemia Flushing Generalized osteosclerosis Myeloproliferative disorder Hypersplenism Immunologic hypersensitivity Hypotension Chronic leukemia Respiratory failure Diabetes mellitus Recurrent respiratory infections Immunodeficiency Vomiting Telangiectasia macularis eruptiva perstans Anaphylactic shock Asthenia Cutaneous mastocytosis Dermatographic urticaria Mastocytosis Food intolerance Abnormal eosinophil morphology Impaired temperature sensation Abnormal blistering of the skin Sudden cardiac death Arthritis Lichenification Cholestasis Skin ulcer Hyperbilirubinemia Encephalitis Elevated erythrocyte sedimentation rate Telangiectasia of the skin Scleroderma Keratoconjunctivitis sicca Irregular hyperpigmentation Xerostomia Raynaud phenomenon Antinuclear antibody positivity Calcinosis Esophageal varix Mucosal telangiectasiae Recurrent fractures Osteoporosis Tachycardia Ichthyosis Papule Leukemia Erythema Arthralgia Thrombocytopenia Sclerodactyly Headache Anemia Generalized abnormality of skin Calcinosis cutis Palmar telangiectasia Lip telangiectasia Increased urinary O-linked sialopeptides


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