Arthritis, and Hemolytic anemia

Diseases related with Arthritis and Hemolytic anemia

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


Top matches:

Low match SITOSTEROLEMIA


Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY


Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY Is also known as alps due to ctla4 haploinsuffiency|chai|ctla4 haploinsufficiency with autoimmune infiltration|ctla-4 haploinsufficiency with autoimmune infiltration disease

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

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Other less relevant matches:

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Low 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

Low 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

Low 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

Low match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Top 5 symptoms//phenotypes associated to Arthritis and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Autoimmune hemolytic anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Autoimmunity Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Autoimmune thrombocytopenia

Uncommon Symptoms - Between 30% and 50% cases


Lymphadenopathy

Common Symptoms - More than 50% cases


Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Thyroiditis Splenomegaly Recurrent respiratory infections Abnormal lung morphology Abnormal intestine morphology Respiratory tract infection Short stature Inflammatory abnormality of the skin Immune dysregulation Arthralgia Purpura Hepatosplenomegaly Hypothyroidism Nephritis Type I diabetes mellitus Interstitial pulmonary abnormality Pneumonia Diabetes mellitus Eczema Decreased antibody level in blood Pain Growth delay Systemic lupus erythematosus Failure to thrive Recurrent sinusitis Villous atrophy

Rare Symptoms - Less than 30% cases


Hepatomegaly Neutropenia Reticulocytosis Abnormality of the thyroid gland Seizures Fatigue Respiratory failure Combined immunodeficiency Recurrent otitis media Colitis Hepatitis Rheumatoid arthritis Scleroderma Interstitial pneumonitis Skin rash Glomerulonephritis Increased antibody level in blood Generalized lymphadenopathy Antinuclear antibody positivity Nephrotic syndrome Chronic diarrhea Lymphopenia Verrucae Recurrent upper respiratory tract infections Abnormality of coagulation Vasculitis Leukopenia Madelung deformity Encephalitis Micromelia Metaphyseal irregularity Irregular vertebral endplates Cutaneous photosensitivity Decrease in T cell count Tubulointerstitial fibrosis Aseptic necrosis Epiphyseal stippling Hashimoto thyroiditis Gangrene Raynaud phenomenon Pleuritis Antiphospholipid antibody positivity Pericarditis Recurrent bacterial infections Malar rash Cognitive impairment Keratoconjunctivitis sicca Uveitis Cerebral calcification Follicular hyperkeratosis Corneal neovascularization Increased IgA level Polyarticular arthritis Comedo Punctate keratitis Spastic tetraplegia Psychosis Midface retrusion Alopecia Arthralgia/arthritis Abnormality of the skin Lumbar hyperlordosis Rhizomelia Metaphyseal sclerosis Memory impairment Progressive spastic quadriplegia Complement deficiency Serositis Narrow nose Abnormality of the skeletal system Burkitt lymphoma Intellectual disability Cellular immunodeficiency Atrophic scars Global developmental delay Platyspondyly Spasticity Low-set ears Intellectual disability, mild Gastritis Spondylometaphyseal dysplasia Severe short stature Juvenile rheumatoid arthritis Kyphoscoliosis Basal ganglia calcification Vitiligo Hyperlordosis Skeletal dysplasia Barrel-shaped chest Follicular hyperplasia Abnormality of the cerebral white matter Neoplasm Clubbing Congestive heart failure Asthma Lymphoma Otitis media Pancytopenia Spastic diplegia Bronchiectasis Conjunctivitis Tetraplegia IgM deficiency Restrictive ventilatory defect IgA deficiency Hypermelanotic macule Fatigable weakness Exocrine pancreatic insufficiency Chronic lung disease Clubbing of fingers Brain neoplasm Cor pulmonale Inflammation of the large intestine Atopic dermatitis Keratitis Erythroderma Hyperapobetalipoproteinemia Psoriasiform dermatitis Impaired T cell function Decreased proportion of CD4-positive T cells Intrauterine growth retardation Sepsis Cardiac arrest Eosinophilia Hyperglycemia Episodic hemolytic anemia Abnormality of the coagulation cascade Malnutrition Ketoacidosis Ileus Pancreatic hypoplasia Intractable diarrhea Secretory diarrhea Muscle weakness Flexion contracture Tuberous xanthoma Abnormality of the integument Blindness Spinal cord compression Abdominal pain Abnormality of the liver Paraplegia Abnormal bleeding Abnormality of the cardiovascular system Hyperbilirubinemia Atherosclerosis Hypercholesterolemia Coronary artery atherosclerosis Xanthomatosis Accelerated atherosclerosis Impaired platelet aggregation Stomatocytosis Hypersplenism Increased mean platelet volume Macrothrombocytopenia Xanthelasma Giant platelets Premature coronary artery atherosclerosis Chronic hemolytic anemia Cardiomyopathy Myopathy Epidermal acanthosis Lymphoproliferative disorder Leukemia Delayed puberty Celiac disease Recurrent ear infections Primary hypothyroidism Erythema Sinusitis Shock Elevated erythrocyte sedimentation rate Lymphocytosis Reduced erythrocyte 2,3-diphosphoglycerate concentration Membranous nephropathy Fever Respiratory insufficiency Edema Hyperhidrosis Hyperkeratosis Photophobia Papule Dry skin Abnormality of the dentition Increased muscle glycogen content Vomiting Exercise intolerance Elevated serum creatine phosphokinase Jaundice Myalgia Corneal opacity Nausea and vomiting Limb muscle weakness Nausea Muscle cramps Cerebral visual impairment Easy fatigability Exercise-induced myoglobinuria Cholelithiasis Polycythemia Myoglobinuria Gout Nonspherocytic hemolytic anemia Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Hypopigmented skin patches on arms



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