Hepatomegaly, and Nephrotic syndrome

Diseases related with Hepatomegaly and Nephrotic syndrome

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

Top matches:

High match AA AMYLOIDOSIS

Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

AA AMYLOIDOSIS Is also known as secondary amyloidosis|inflammatory amyloidosis|reactive amyloidosis

Related symptoms:

  • Hepatomegaly
  • Vomiting
  • Abnormal heart morphology
  • Abdominal pain
  • Hypothyroidism


SOURCES: ORPHANET MENDELIAN

More info about AA AMYLOIDOSIS

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

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

Other less relevant matches:

COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 Is also known as cvid9, formerly|immunodeficiency, common variable, 9, formerly

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

High 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

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Nephrotic syndrome

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Skin rash Common - Between 50% and 80% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Vasculitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Fever Nephropathy Renal amyloidosis Thrombocytopenia Abdominal pain Elevated erythrocyte sedimentation rate Amyloidosis Hypothyroidism Arthralgia Arthritis Proteinuria Cholestasis Increased antibody level in blood Urticaria

Rare Symptoms - Less than 30% cases

Cardiomyopathy Peripheral neuropathy Fatigue Abnormality of the liver Elevated hepatic transaminase Weight loss Hypertension Glaucoma Constipation Thyroiditis Myalgia Leukocytosis Diarrhea Serositis Alopecia Seizures Generalized lymphadenopathy Systemic lupus erythematosus Acidosis Purpura Autoimmunity Erythema Immunodeficiency Antinuclear antibody positivity Edema Pain Neoplasm Shock Nausea Chronic diarrhea Eosinophilia Chronic kidney disease Abnormality of the kidney Malabsorption Hemolytic anemia Autoimmune thrombocytopenia Increased body weight Recurrent bacterial infections Disproportionate short-limb short stature Scaling skin Erythroderma Combined immunodeficiency Aplasia/Hypoplasia of the eyebrow Hashimoto thyroiditis Reticulocytosis Thickened skin Severe combined immunodeficiency Hypoproteinemia Recurrent viral infections Hypoplasia of the thymus Cellular immunodeficiency Metaphyseal chondrodysplasia B lymphocytopenia Recurrent fungal infections Protracted diarrhea Abnormal lymphocyte morphology Desquamation of skin soon after birth Severe B lymphocytopenia Short toe Sepsis Abnormality of the metaphysis Progressive spastic paraplegia Tetraplegia Brain atrophy Spastic tetraplegia Tetraparesis Progressive neurologic deterioration Lower limb spasticity Progressive microcephaly Spastic tetraparesis Toe walking Pericardial effusion Basal ganglia calcification Inflammatory abnormality of the skin Atopic dermatitis Chilblains Failure to thrive Pneumonia Severe short stature Papule Pruritus Hypotrichosis Dry skin Optic atrophy Lymphoma Short stature Pes cavus Macrocephaly Acute hepatic failure Nephrocalcinosis Pancreatitis Rheumatoid arthritis Intestinal obstruction Inflammation of the large intestine Hyperkalemia Pericarditis Episodic fever Increased serum ferritin Gout Edema of the lower limbs Oral leukoplakia Osteoarthritis Anemia of inadequate production Peritonitis Decreased circulating aldosterone level Synovitis Stiff neck Pleuritis Congenital hypoplastic anemia Erysipelas Gastrointestinal infarctions Azotemia Recurrent meningitis Meningitis Myocardial infarction Abnormality of metabolism/homeostasis Progressive sensorineural hearing impairment Abnormality of eye movement Abnormal heart morphology Camptodactyly of finger Delayed puberty Ichthyosis Abnormality of the genital system Conjunctivitis Cranial nerve paralysis Abnormal palate morphology Abnormality of the voice Restrictive ventilatory defect Uveitis Asthma Broad foot Abnormality of the nose Recurrent aphthous stomatitis Episcleritis Hernia of the abdominal wall Renal insufficiency Headache Arrhythmia Nausea and vomiting Stage 5 chronic kidney disease Ascites Chest pain Paraplegia Irritability Abnormality of the cerebral white matter Panniculitis Abnormal lung morphology Bronchiectasis Recurrent upper respiratory tract infections Portal hypertension Emphysema Wheezing Hemoptysis Hepatocellular carcinoma Chronic obstructive pulmonary disease Neoplasm of the liver Muscle weakness Hepatic failure Ptosis Gastrointestinal hemorrhage Myopathy Encephalopathy Elevated serum creatine phosphokinase Hepatic amyloidosis Cardiac amyloidosis Ophthalmoplegia Limb muscle weakness Lower limb muscle weakness Astigmatism Hepatitis Cirrhosis Increased serum lactate Antineutrophil antibody positivity Increased IgA level Antiphospholipid antibody positivity Follicular hyperplasia Malar rash Increased IgM level Autoimmune neutropenia Increased IgG level Reduced delayed hypersensitivity Coombs-positive hemolytic anemia Rheumatoid factor positive Platelet antibody positive Decreased lymphocyte apoptosis Carcinoma Increased proportion of HLA DR+ T cells Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Smooth muscle antibody positivity Increased B cell count Iron deficiency anemia Autoimmune hemolytic anemia Respiratory distress Petechiae Dyspnea Jaundice Nephritis Metabolic acidosis Oligohydramnios Spastic paraplegia Generalized hypotonia Vomiting Glomerulonephritis Recurrent sinusitis Venous thrombosis Lymphoproliferative disorder Immune dysregulation Lymphocytosis Ventricular tachycardia Membranous nephropathy Intellectual disability Global developmental delay Microcephaly Sinusitis Growth delay Spasticity Feeding difficulties Intrauterine growth retardation Dystonia Cerebral atrophy Absent speech Hypotension Muscular hypotonia of the trunk Developmental regression Chronic noninfectious lymphadenopathy Atrioventricular block Adrenal insufficiency Cardiomegaly Paresthesia Ventricular hypertrophy Left ventricular hypertrophy Amblyopia Exercise intolerance External ophthalmoplegia Progressive external ophthalmoplegia Congenital nephrotic syndrome Hearing impairment Abnormal cardiac ventricle morphology Abnormal oral mucosa morphology Abnormal echocardiogram Hematuria Malnutrition Polyneuropathy Optic neuropathy Papilledema Drusen Restrictive cardiomyopathy Albuminuria Generalized amyloid deposition Abnormal renal physiology Recurrent infections Enlarged kidney Acute kidney injury Orchitis


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