Hepatomegaly, and Papule

Diseases related with Hepatomegaly and Papule

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

Top matches:

Medium 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

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

Medium match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Other less relevant matches:

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

Medium match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Medium match PROLIDASE DEFICIENCY

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

Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Medium 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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Papule

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Skin rash Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Lymphadenopathy

Uncommon Symptoms - Between 30% and 50% cases

Myalgia Elevated erythrocyte sedimentation rate Leukocytosis Headache Edema Erythema Cataract Arthralgia Thrombocytopenia Arthritis Diarrhea Fatigue Pain Obesity Intellectual disability Alopecia Skeletal muscle atrophy Pneumonia Urticaria Leukopenia Cough Visual impairment Weight loss Pruritus Blindness Purpura Flexion contracture Vasculitis Global developmental delay Uveitis Abdominal pain Hypertension Inflammatory abnormality of the skin Failure to thrive

Rare Symptoms - Less than 30% cases

Hearing impairment Gastrointestinal hemorrhage Hypermelanotic macule Portal hypertension Osteolysis Asthma Sudden cardiac death Nausea Nausea and vomiting Arrhythmia Neoplasm Growth delay Ataxia Abnormal facial shape Micrognathia Infertility Aplasia/Hypoplasia of the skin Increased antibody level in blood Generalized hirsutism Recurrent pneumonia Abnormal lung morphology Thin skin Dehydration Hirsutism Hyperuricemia High forehead Vomiting Hypertelorism Frontal bossing Erythema nodosum Immune dysregulation Pancytopenia Seizures Renal insufficiency Elevated hepatic transaminase Dilatation Peripheral neuropathy Combined immunodeficiency Amyloidosis Reduced bone mineral density Migraine Proptosis Generalized lymphadenopathy Congestive heart failure Dyspnea Malabsorption Immunodeficiency Glomerulopathy Hypothyroidism Erysipelas Dry skin Sepsis Raynaud phenomenon Nephrotic syndrome Telangiectasia Shock Bone pain Pulmonary fibrosis Scoliosis Myopathy Hyperhidrosis Eosinophilia Hypopigmentation of the skin Advanced eruption of teeth Depressivity Increased adipose tissue around the neck Eclampsia Congenital generalized lipodystrophy Dysmenorrhea Abnormal conjunctiva morphology Constipation Acute pancreatitis Loss of subcutaneous adipose tissue in limbs Hyperlipoproteinemia Absence of subcutaneous fat Enlargement of parotid gland Abnormality of T cell physiology Generalized lipodystrophy Abnormality of the menstrual cycle Increased intramuscular fat Posterior vitreous detachment Vitreous floaters Sunken cheeks Abnormal reproductive system morphology Labial pseudohypertrophy Generalized hypotonia Microcephaly Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Increased facial adipose tissue Abnormality of skeletal muscle fiber size Abnormality of complement system Adipose tissue loss Non-caseating epithelioid cell granulomatosis Vitritis Osteopoikilosis Increased intraabdominal fat Abnormality of skin morphology Decreased HDL cholesterol concentration Osteolytic defects of the phalanges of the hand Xanthomatosis Myocardial infarction Enlarged lacrimal glands Vitreous snowballs Hyperlipidemia Atherosclerosis Acanthosis nigricans Pancreatitis Spontaneous abortion Abnormality of the nail Insulin resistance Hypertriglyceridemia Polycystic ovaries Epidermal acanthosis Round face Hepatic steatosis Thin vermilion border Pulmonary granulomatosis Narrow chest Hypertrophic cardiomyopathy Diabetes mellitus Pectus excavatum Cranial nerve paralysis Lipodystrophy Abnormal liver parenchyma morphology Abnormal cardiac ventricular function Angina pectoris Prominent superficial veins Peripheral arterial stenosis Postnatal growth retardation Maternal diabetes Abnormality of lipid metabolism Parotitis Insulin-resistant diabetes mellitus Short clavicles Secondary amenorrhea Hyperinsulinemia Lipoatrophy Increased T cell count Cellulitis Reduced subcutaneous adipose tissue Coronary artery atherosclerosis Skeletal muscle hypertrophy Abnormality of the nasal mucosa Maculopapular exanthema Hyperglycemia Rod-cone dystrophy Increased CSF protein Pallor Anterior synechiae of the anterior chamber Skin nodule Nephrocalcinosis Decreased liver function Night sweats Hyperpigmentation of the skin Anorexia Bronchiectasis Nephrolithiasis Subcutaneous nodule Bone cyst Palpitations Syncope Pneumothorax Chest pain Abnormality of the pleura Hemolytic anemia Vitreous hemorrhage Hepatic failure Scarring Ventricular tachycardia Hypercalciuria Proximal muscle weakness Blurred vision Joint swelling Optic neuropathy Hemoptysis Keratoconjunctivitis sicca Hyperthyroidism Abnormality of the musculature Interstitial pulmonary abnormality Chorioretinal atrophy Emphysema Macular edema Diabetes insipidus Epiphora Hypothermia Inflammation of the large intestine Pleural effusion Hypercalcemia Tubulointerstitial nephritis Abnormality of the gastrointestinal tract Upper airway obstruction Facial palsy Photophobia Nyctalopia Long eyelashes Subcapsular cataract Chorioretinitis Dacryocystitis Colitis Intestinal obstruction Apathy Conjunctivitis Anterior uveitis Abnormal salivary gland morphology Abnormality of the adrenal glands Optic disc pallor Eczema Aciduria Iridocyclitis Heart block Limitation of joint mobility Abdominal distention Retinal dystrophy Vertigo Episodic fever Abnormality of the lymph nodes Glaucoma Chills Cardiomyopathy Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Porokeratosis Neuritis Increased IgA level Recurrent aphthous stomatitis Peripheral visual field loss Peritonitis Large forehead Acrocyanosis Chylothorax Cystoid macular edema Abnormality of the cerebrospinal fluid Posterior subcapsular cataract Skin plaque Poor coordination Respiratory distress Short nose Abnormality of the skeletal system Desquamation of skin soon after birth Recurrent fractures Tachycardia Cirrhosis Ichthyosis Leukemia Gastroesophageal reflux Osteoporosis Severe B lymphocytopenia Abnormal lymphocyte morphology Hypotension Protracted diarrhea Recurrent fungal infections B lymphocytopenia Metaphyseal chondrodysplasia Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Severe combined immunodeficiency Ascites Abnormal blistering of the skin Thyroiditis Immunologic hypersensitivity Cutaneous mastocytosis Dermatographic urticaria Mastocytosis Abnormality of the gastric mucosa Food intolerance Abnormal eosinophil morphology Impaired temperature sensation Asthenia Gastrointestinal stroma tumor Bone marrow hypocellularity Hypersplenism Myeloproliferative disorder Generalized osteosclerosis Allergy Flushing Acute leukemia Abnormality of blood and blood-forming tissues Loss of consciousness Sarcoma Hashimoto thyroiditis Aplasia/Hypoplasia of the eyebrow Chronic leukemia Synovitis Delayed puberty Elevated serum creatine phosphokinase Gait disturbance Muscle weakness Abnormal inflammatory response Chronic recurrent multifocal osteomyelitis Abnormality of bone marrow cell morphology Congenital hypoplastic anemia Hypochromic microcytic anemia Fine hair Microscopic hematuria Pulmonary infiltrates Pustule Acne Metaphyseal irregularity Increased susceptibility to fractures Cachexia Increased bone mineral density Proteinuria Nail dysplasia Hypohidrosis Erythroderma Lymphoma Scaling skin Disproportionate short-limb short stature Recurrent bacterial infections Increased body weight Short toe Chronic diarrhea Thickened skin Abnormality of the metaphysis Hypotrichosis Clubbing Autoimmunity Severe short stature Mottled pigmentation Thin eyebrow Poikiloderma Heat intolerance Achilles tendon contracture Scleroderma Truncal obesity Anaphylactic shock Telangiectasia macularis eruptiva perstans Short stature Carious teeth Depressed nasal ridge Cutaneous photosensitivity Low posterior hairline Hepatitis Convex nasal ridge Palmoplantar keratoderma Arachnodactyly Genu valgum Hyperkeratosis Lymphedema Prominent forehead Recurrent respiratory infections Abnormality of metabolism/homeostasis Recurrent infections Malar flattening Intellectual disability, mild Intellectual disability, severe Downslanted palpebral fissures Depressed nasal bridge Abnormality of retinal pigmentation Skin ulcer High palate Chronic lung disease Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Hypoplasia of the zygomatic bone Low anterior hairline Prolonged neonatal jaundice Abnormality of the immune system Abnormality of the hip bone Petechiae Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Abnormality of the fingernails Bilateral single transverse palmar creases Delayed speech and language development Ptosis Sensorineural hearing impairment Abnormal joint morphology Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Arthropathy Progressive sensorineural hearing impairment Abnormal granulocyte morphology Increased intracranial pressure Joint dislocation Meningitis Overgrowth Premature birth EEG abnormality Skeletal dysplasia Macrocephaly Brachydactyly Retrobulbar optic neuritis Optic atrophy Central retinal artery occlusion Agitation Retinal arterial occlusion Lupus anticoagulant Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Granulocytopenia Hypercoagulability Thrombocytosis Aphasia Cerebral hemorrhage Abnormality of the liver Cutis marmorata Hemiplegia Ischemic stroke Foot dorsiflexor weakness Hemiparesis Decreased antibody level in blood Paraplegia Ophthalmoplegia Stroke Abnormal trabecular meshwork morphology


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