Arthritis, and Hepatosplenomegaly

Diseases related with Arthritis and Hepatosplenomegaly

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


Top matches:

Medium match HYPERZINCEMIA AND HYPERCALPROTECTINEMIA


Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.

HYPERZINCEMIA AND HYPERCALPROTECTINEMIA Is also known as recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome|albumin binding of zinc, elevated|hyperzincemia, familial dysalbuminemic

Related symptoms:

  • Growth delay
  • Anemia
  • Recurrent infections
  • Abnormality of metabolism/homeostasis
  • Hepatosplenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERZINCEMIA AND HYPERCALPROTECTINEMIA

Medium match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Medium match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

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Other less relevant matches:

Medium match IMMUNODEFICIENCY 57; IMD57


Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 57; IMD57

Medium match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT


Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Medium match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Medium match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3


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

Medium match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

Medium match MUCKLE-WELLS SYNDROME; MWS


Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features.

MUCKLE-WELLS SYNDROME; MWS Is also known as caps2|uda syndrome|urticaria-deafness-amyloidosis syndrome|cryopyrin-associated periodic syndrome 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about MUCKLE-WELLS SYNDROME; MWS

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3


Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

Top 5 symptoms//phenotypes associated to Arthritis and Hepatosplenomegaly

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Arthralgia Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Hepatosplenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Autoimmunity Failure to thrive Immunodeficiency Splenomegaly Fever Elevated erythrocyte sedimentation rate Pneumonia Thrombocytopenia Hemolytic anemia Growth delay Lymphopenia Hepatomegaly

Rare Symptoms - Less than 30% cases


Sinusitis Leukocytosis Decreased antibody level in blood Abnormal lung morphology Bronchiectasis Vasculitis Recurrent respiratory infections Dry skin Chronic diarrhea Lymphocytosis Uveitis Keratitis Pain Inflammatory abnormality of the skin Thyroiditis Autoimmune hemolytic anemia Autoimmune thrombocytopenia Increased antibody level in blood Erythema Nephrotic syndrome Conjunctivitis Respiratory tract infection Myalgia Abdominal pain Leukemia Episodic fever Papule Bronchiolitis obliterans Hyperkeratosis Photophobia Panniculitis Cystinuria Hyperhidrosis Epidermal acanthosis Chills Atrophic scars Keratoconjunctivitis sicca Antinuclear antibody positivity Follicular hyperkeratosis Finger swelling Edema Villous atrophy Flexion contracture Scarring Elevated hepatic transaminase Systemic lupus erythematosus Glomerulonephritis Dysphagia Recurrent sinusitis Rigors Band keratopathy Renal amyloidosis Lymphoproliferative disorder Immune dysregulation Generalized lymphadenopathy Membranous nephropathy Respiratory insufficiency Hypercholesterolemia Polyarticular arthritis Corneal neovascularization Nephropathy Amyloidosis Progressive sensorineural hearing impairment Urticaria Abnormality of the mouth Meningitis Calcinosis Abnormality of the skin Bronchiolitis Hypochromic anemia Papilledema Microscopic hematuria Shock Microcytic anemia Coma Hematuria Increased IgA level Sensorineural hearing impairment Myositis Recurrent aphthous stomatitis Comedo Punctate keratitis Seizures Hearing impairment Fatigue Stage 5 chronic kidney disease Lipodystrophy Abnormality of the skeletal system Cerebral calcification Hypermelanotic macule Renal insufficiency Ichthyosis Hypertriglyceridemia Delayed puberty Purpura Rheumatoid arthritis Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Visual impairment Visual loss Falls Pleural effusion Pericarditis Increased hemoglobin Joint swelling Juvenile rheumatoid arthritis Elevated C-reactive protein level Anterior uveitis Serositis Vomiting Increased red cell osmotic fragility Increased total bilirubin Chronic lung disease Abnormality of the liver Abnormality of metabolism/homeostasis Pyoderma Increased serum zinc Congestive heart failure Arrhythmia Jaundice Cirrhosis Congenital hypoplastic anemia Hyperbilirubinemia Cholelithiasis Prolonged neonatal jaundice Reticulocytosis Gout Anemia of inadequate production Chronic myelogenous leukemia Inflammation of the large intestine Gastritis Interstitial pneumonitis Abnormal intestine morphology Abnormality of the dentition Diabetes mellitus Hypothyroidism Neutropenia Eczema Type I diabetes mellitus Interstitial pulmonary abnormality Defective production of NFKB1-dependent cytokines Colitis Celiac disease Scleroderma Atopic dermatitis Recurrent ear infections Primary hypothyroidism Short stature Aplasia of the sweat glands Bloody diarrhea Sparse scalp hair Delayed speech and language development Frontal bossing Sparse hair Hypodontia Ectodermal dysplasia Fine hair Hypohidrosis Periorbital wrinkles Anhidrosis Agammaglobulinemia Heat intolerance Conical tooth Concave nasal ridge Anhidrotic ectodermal dysplasia Recurrent infection of the gastrointestinal tract Bronchiolitis obliterans organizing pneumonia



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