Hepatomegaly, and Dysphagia

Diseases related with Hepatomegaly and Dysphagia

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

Top matches:

Medium match PLEURAL MESOTHELIOMA

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

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

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Other less relevant matches:

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

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Medium 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

Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dysphagia

Symptoms // Phenotype % cases
Anemia Uncommon - Between 30% and 50% cases
Oral-pharyngeal dysphagia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Splenomegaly Respiratory failure Hepatosplenomegaly Rigidity Progressive neurologic deterioration Dyskinesia Motor delay Feeding difficulties Left ventricular hypertrophy Dysarthria Dystonia Gastroesophageal reflux Dementia Failure to thrive Mental deterioration Cognitive impairment Neoplasm Ascites Abnormality of the liver Elevated hepatic transaminase Gait disturbance

Rare Symptoms - Less than 30% cases

Abnormality of movement Paresthesia Ragged-red muscle fibers Fatigue Muscular hypotonia Bipolar affective disorder Orofacial dyskinesia Babinski sign Elevated serum creatine phosphokinase Thrombocytopenia Cerebral atrophy Peripheral neuropathy Hyperreflexia Hypertension Spasticity Strabismus Calcinosis Arrhythmia Urinary incontinence Parkinsonism Cardiomyopathy Chorea Memory impairment Neuronal loss in central nervous system Athetosis Psychosis Bradykinesia Muscle weakness Depressivity Myopathy Alcoholism Areflexia Cirrhosis Ataxia Generalized hypotonia Intellectual disability Emotional lability Bowel incontinence Progressive muscle weakness Paralysis Hypertrophic cardiomyopathy Abnormal lung morphology Respiratory distress Weight loss Dyspnea Gastrointestinal hemorrhage Postural instability Fever Decreased LDL cholesterol concentration Neuropathic arthropathy Congestive heart failure Increased HDL cholesterol concentration Mood swings Abnormal adipose tissue morphology Short stature Subcutaneous hemorrhage Hyperlipoproteinemia Hypertonia Increased muscle fatiguability Focal dystonia Pseudohypoparathyroidism Oligomenorrhea Abnormal lower motor neuron morphology Behavioral abnormality Lewy bodies Hyperhidrosis Frontotemporal dementia Anxiety Dilated cardiomyopathy Abnormality of the cerebral white matter Progressive encephalopathy Lower limb muscle weakness Confusion Hemolytic anemia Gout Macrocytic anemia Lipoma Polyneuropathy Palmar telangiectasia Calcinosis cutis Generalized abnormality of skin Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Pes cavus Diabetes mellitus Hypothyroidism Arthralgia Joint stiffness Tachycardia Muscle cramps Limb dysmetria Abnormality of the skin Myocardial infarction Insulin resistance Hoarse voice Reduced tendon reflexes Abnormality of mitochondrial metabolism Micrographia Coronary artery atherosclerosis Axonal degeneration Multiple lipomas Focal motor seizures Arthropathy Basal ganglia calcification Sensory neuropathy Mask-like facies Abnormality of neuronal migration Acanthocytosis Sclerodactyly Gait ataxia Encephalopathy Insomnia Headache Ventriculomegaly Tremor Intrauterine growth retardation Microcephaly Ventricular extrasystoles Left bundle branch block Motor axonal neuropathy Supraventricular tachycardia Abnormality of the astrocytes Impaired pain sensation Tics Hyporeflexia of upper limbs Excessive salivation Hyporeflexia of lower limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Generalized limb muscle atrophy Restlessness Abnormal pyramidal sign Personality disorder Personality changes Dysdiadochokinesis Generalized-onset seizure Atrial fibrillation Involuntary movements Hallucinations Sensorimotor neuropathy Cardiac arrest Sleep apnea Ventricular arrhythmia Slurred speech Obsessive-compulsive behavior Schizophrenia Muscle stiffness Clumsiness Impaired vibration sensation in the lower limbs Broad-based gait Choreoathetosis Abnormality of extrapyramidal motor function Cerebral calcification Gliosis Abnormal cerebellum morphology Vertigo Ventricular fibrillation Sensory axonal neuropathy Rhabdomyolysis Dysmetria Neurological speech impairment Corneal opacity Lip telangiectasia Ketosis Mucosal telangiectasiae Esophageal carcinoma Parakeratosis Abnormality of the mouth Hiatus hernia Esophagitis Follicular hyperkeratosis Oral leukoplakia Hypergranulosis Stomach cancer Esophageal stricture Plantar hyperkeratosis Clubbing of toes Abnormality of the mediastinum Diffuse palmoplantar hyperkeratosis Esophageal neoplasm Abnormality of esophagus physiology Squamous cell carcinoma Protuberant abdomen Macroglossia Limb muscle weakness Dilatation Recurrent aspiration pneumonia Bulbar signs Trismus Oculomotor apraxia Abnormal large intestine morphology Aspiration Esotropia Ophthalmoplegia Developmental regression Apnea Esophageal leukoplakia Poor appetite Poor suck Abnormality of refraction Functional respiratory abnormality Vomiting Diarrhea Abdominal pain Cough Lymphadenopathy Nausea Chest pain Hypotension Pleural effusion Abnormality of the thorax Intestinal obstruction Night sweats Abnormality of the pleura Abnormality of cardiovascular system physiology Fourth cranial nerve palsy Palmoplantar hyperkeratosis Hyperkeratosis Thickened skin Epidermal acanthosis Ectodermal dysplasia Palmoplantar keratoderma Nausea and vomiting Carcinoma Hernia Constitutional symptom Edema Pericardial mesothelioma Peritoneal mesothelioma Pleural mesothelioma Obstruction of the superior vena cava Malignant mesothelioma Cardiomegaly Diaphragmatic weakness Abnormality of the gastric mucosa Telangiectasia Shock Tachypnea Hyperammonemia Abnormality of the coagulation cascade Generalized amyotrophy Skeletal myopathy Proximal tubulopathy Sideroblastic anemia Jaundice Myalgia Arthritis Skin rash Pruritus Cholestasis Skin ulcer Exercise intolerance Irregular hyperpigmentation Lichenification Biliary cirrhosis Esophageal varix Antinuclear antibody positivity Raynaud phenomenon Xerostomia Keratoconjunctivitis sicca Hyperbilirubinemia Scleroderma Telangiectasia of the skin Elevated erythrocyte sedimentation rate Steatorrhea Elevated alkaline phosphatase Encephalitis Respiratory insufficiency due to muscle weakness Ventricular hypertrophy Increased muscle glycogen content Fetal ascites Abnormality of lysosomal metabolism Neurodegeneration Stereotypy Aphasia Interstitial pulmonary abnormality Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Supranuclear gaze palsy Visceromegaly Perseveration Vertical supranuclear gaze palsy Cataplexy Bone-marrow foam cells Sea-blue histiocytosis Increased serum lactate Skeletal muscle atrophy Metabolic acidosis Lactic acidosis Lethargy Muscular hypotonia of the trunk Acidosis Hypoplasia of the corpus callosum Ptosis Motor aphasia Nystagmus Growth delay Scoliosis Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Dense calcifications in the cerebellar dentate nucleus


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