Anemia, and Erythema

Diseases related with Anemia and Erythema

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


Top matches:

Low match AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA


Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

Low match HEREDITARY SPHEROCYTOSIS


Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

Low match PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1


Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

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Other less relevant matches:

Low match LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2


XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA ), and general dysregulation of the immune pathway, such as increased levels of IL18 (OMIM ). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Is also known as xiap deficiency

Related symptoms:

  • Anemia
  • Fever
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

Low match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Low match STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY


STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY

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 GLUCAGONOMA


Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.

GLUCAGONOMA Is also known as glucagonoma syndrome

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Depressivity
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET MESH MENDELIAN

More info about GLUCAGONOMA

Low match MASTOCYTOSIS, CUTANEOUS; MASTC


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

Low 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 Anemia and Erythema

Symptoms // Phenotype % cases
Skin rash Common - Between 50% and 80% cases
Arthralgia Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Erythema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hemolytic anemia Splenomegaly Edema Pruritus Recurrent infections Lymphadenopathy Increased antibody level in blood Hepatomegaly Scarring Cholelithiasis Inflammatory abnormality of the skin Fever Cutaneous photosensitivity Microcytic anemia Cirrhosis Hypertriglyceridemia

Rare Symptoms - Less than 30% cases


Hepatitis Recurrent respiratory infections Arthritis Immunodeficiency Weight loss Myositis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukopenia Lymphopenia Nausea and vomiting Telangiectasia Sudden cardiac death Autoimmunity Myalgia Failure to thrive Immune dysregulation Eczema Gastrointestinal hemorrhage Sinusitis Shock Diarrhea Abnormality of the liver Fatigue Ascites Decreased liver function Pain Jaundice Headache Extrahepatic cholestasis Hypercalcemia Anorexia Normochromic anemia Episodic abdominal pain Subcutaneous lipoma Glossitis Adrenocortical adenoma Lack of bowel sounds Necrolytic migratory erythema Abnormal gastrointestinal motility Neoplasm Intestinal obstruction Stomatitis Intermittent jaundice Pituitary adenoma Abnormality of abdomen morphology Increased circulating cortisol level Growth hormone excess Arrhythmia Prolactin excess Neoplasm of the pancreas Intrahepatic cholestasis Increased circulating gonadotropin level Steatorrhea Chronic fatigue Acanthocytosis Primary hyperparathyroidism Poor appetite Parathyroid adenoma Thromboembolism Abnormality of the thyroid gland Hypertension Bronchiolitis obliterans Osteoporosis Flexion contracture Impaired temperature sensation Abnormal eosinophil morphology Food intolerance Abnormality of the gastric mucosa Mastocytosis Dermatographic urticaria Cutaneous mastocytosis Anaphylactic shock Chronic leukemia Telangiectasia macularis eruptiva perstans Dysphagia Immunologic hypersensitivity Pneumonia Elevated hepatic transaminase Cerebral calcification Conjunctivitis Hypercholesterolemia Lipodystrophy Keratitis Calcinosis Bronchiolitis Hypochromic anemia Panniculitis Asthenia Gastrointestinal stroma tumor Abdominal pain Bone pain Gastroesophageal reflux Leukemia Papule Malabsorption Ichthyosis Nausea Tachycardia Recurrent fractures Asthma Finger swelling Bone marrow hypocellularity Hypersplenism Osteolysis Sarcoma Urticaria Portal hypertension Loss of consciousness Abnormality of blood and blood-forming tissues Acute leukemia Flushing Allergy Generalized osteosclerosis Myeloproliferative disorder Hypotension Follicular hyperplasia Diabetes mellitus Abnormality of the gastrointestinal tract Lymphoma Decreased antibody level in blood Pancytopenia Recurrent skin infections Acne Inflammation of the large intestine Colitis Increased serum ferritin Aplastic anemia Irritability Hemophagocytosis Folliculitis Erythema nodosum Dysgammaglobulinemia Hypofibrinogenemia Alopecia Carcinoma Hepatic steatosis Hypertrichosis Respiratory tract infection Cholecystitis Hyperpigmentation of the skin Autoimmune hemolytic anemia Abnormality of the heme biosynthetic pathway Short stature Abnormality of the skeletal system Cardiomyopathy Hypertrophic cardiomyopathy Delayed puberty Palpitations Hyperbilirubinemia Reticulocytosis Acute hepatic failure Spherocytosis Elliptocytosis Erythroid hypoplasia Paresthesia Falls Hepatic failure Polyneuropathy Tetraparesis Cholestasis Thin skin Generalized hirsutism Constipation Purpura Thrombocytosis Pustule Raynaud phenomenon Antinuclear antibody positivity Low-grade fever Malar rash Fasciitis Nephrotic syndrome Systemic lupus erythematosus Pulmonary fibrosis Glomerulonephritis Recurrent sinusitis Thyroiditis Autoimmune thrombocytopenia Lymphoproliferative disorder Lymphocytosis Generalized lymphadenopathy Membranous nephropathy Depressivity Interstitial pulmonary abnormality Cutis marmorata Cerebral palsy Alcoholism Hypopigmented skin patches Skin vesicle Fragile skin Scleroderma Hepatocellular carcinoma Atypical scarring of skin Onycholysis Anemia of inadequate production Congenital hypoplastic anemia Tachypnea Facial hypertrichosis Viral hepatitis Porphyrinuria Hyperpigmentation in sun-exposed areas Growth delay Joint stiffness Nail dystrophy Abnormal lung morphology Decreased body weight Bronchiolitis obliterans organizing pneumonia



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