Anemia, and Eczema

Diseases related with Anemia and Eczema

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


Top matches:

Medium 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 DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

Low match COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY


Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.

COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY Is also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive|cd3-gamma deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY

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Other less relevant matches:

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

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 COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low match IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY


Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

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

Low match GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE


Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.'

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE Is also known as cgd due to deficiency of the alpha subunit of cytochrome b|cyba deficiency|cgd, autosomal recessive cytochrome b-negative

Related symptoms:

  • Growth delay
  • Pain
  • Anemia
  • Hepatomegaly
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE

Low match COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Eczema

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Autoimmune hemolytic anemia Common - Between 50% and 80% cases
Hemolytic anemia Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Lymphadenopathy

Uncommon Symptoms - Between 30% and 50% cases


Inflammatory abnormality of the skin Abnormal intestine morphology Thrombocytopenia Hepatomegaly Thyroiditis Immune dysregulation Splenomegaly Hypothyroidism Respiratory tract infection Lymphopenia Autoimmunity Recurrent respiratory infections Growth delay Abnormal lung morphology Pneumonia Recurrent bacterial infections Arthritis Hepatosplenomegaly

Rare Symptoms - Less than 30% cases


Increased antibody level in blood Bronchiolitis Pain Intrauterine growth retardation Edema Asthma Villous atrophy Microcytic anemia Cholelithiasis Decreased liver function Cutaneous photosensitivity Pruritus Psoriasiform dermatitis Decrease in T cell count Erythema Diabetes mellitus Nephrotic syndrome Failure to thrive Atopic dermatitis Erythroid dysplasia Recurrent pneumonia Erythroderma Type I diabetes mellitus Recurrent skin infections Myelodysplasia Recurrent viral infections Secretory diarrhea Hepatitis Cardiac arrest Sepsis Abdominal pain Renal insufficiency Eosinophilia Intractable diarrhea Pancreatic hypoplasia Nephritis Ileus Ketoacidosis Abnormality of the thyroid gland Malnutrition Recurrent fungal infections Abnormality of the coagulation cascade Granulocytopenia Hyperglycemia Chronic hemolytic anemia Recurrent bacterial skin infections Leukocytosis Hypoplasia of dental enamel Recurrent E. coli infections Deficiency or absence of cytochrome b(-245) Generalized hypotonia Muscular hypotonia Myopathy Nail dysplasia Hypohidrosis Absence of bactericidal oxidative respiratory burst in phagocytes Abnormality of dental enamel Sarcoma Anhidrosis Episodic fever Hypoplasia of the iris Amelogenesis imperfecta Recurrent lower respiratory tract infections Negative nitroblue tetrazolium reduction test Recurrent Serratia marcescens infections Osteomyelitis Chronic infection Cellulitis Rhinitis Stomatitis Rhinorrhea Granulomatosis Eczematoid dermatitis Esophagitis Rectal abscess Recurrent Burkholderia cepacia infections Liver abscess Discoid lupus rash Lymphadenitis Recurrent Staphylococcus aureus infections Decreased activity of NADPH oxidase Recurrent Klebsiella infections Recurrent Aspergillus infections Chronic lung disease Dry skin Antinuclear antibody positivity Chronic myelomonocytic leukemia Falls Paresthesia Scarring Abnormality of the liver Jaundice Recurrent gastroenteritis Decreased proportion of CD8-positive T cells Bronchiolitis obliterans Severe combined immunodeficiency Combined immunodeficiency Inflammation of the large intestine Recurrent otitis media Malabsorption Monocytosis Polyneuropathy Refractory anemia Acute monocytic leukemia Acute myeloid leukemia Myeloid leukemia Systemic lupus erythematosus Melanoma Leukopenia Bone marrow hypocellularity Lymphoma Leukemia Neoplasm Abnormality of the heme biosynthetic pathway Cirrhosis Hepatic failure Abnormal blistering of the skin Gingivitis Respiratory failure Iron deficiency anemia IgA deficiency Chronic diarrhea Alopecia Respiratory insufficiency Folliculitis Protein-losing enteropathy Osteosarcoma Severe intrauterine growth retardation Bronchiectasis Neutropenia Ichthyosis Postnatal growth retardation Glaucoma Tetraparesis Blindness Abnormal facial shape Decreased proportion of CD4-positive T cells Impaired T cell function Verrucae Autoimmune thrombocytopenia Interstitial pulmonary abnormality Recurrent upper respiratory tract infections Decreased antibody level in blood Cholecystitis Acute hepatic failure Cholestasis Hypertriglyceridemia Intermittent diarrhea



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