Anemia, and Sepsis

Diseases related with Anemia and Sepsis

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


Top matches:

Medium match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Low match COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY


Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY Is also known as combined immunodeficiency with expansion of gamma delta t cells|cid due to partial rag1 deficiency|cid with expansion of gamma delta t cells

Related symptoms:

  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Autoimmunity
  • Sepsis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY

Low match IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA


IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

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Other less relevant matches:

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM


Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the milder and localized Weber-Cockayne type (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM Is also known as epidermolysis bullosa simplex, generalized severe|epidermolysis bullosa herpetiformis, dowling-meara type

Related symptoms:

  • Growth delay
  • Anemia
  • Hyperkeratosis
  • Scarring
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM

Low match COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY


COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY Is also known as cid due to tfrc deficiency|tfrc-related combined immunodeficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY

Low match LEUKOCYTE ADHESION DEFICIENCY TYPE III


Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.

LEUKOCYTE ADHESION DEFICIENCY TYPE III Is also known as lad-1 variant|lad1v|leukocyte adhesion deficiency 1 variant|lad-iii|leukocyte adhesion deficiency-1 variant|iadd|leukocyte adhesion deficiency 3|integrin activation deficiency disease

Related symptoms:

  • Pain
  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY TYPE III

Low match CYCLIC NEUTROPENIA


Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. Genetic Heterogeneity of Severe Congenital NeutropeniaSevere congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Another autosomal dominant form, SCN2 (OMIM ), is caused by mutation in the protooncogene GFI1 (OMIM ) on 1p22. Autosomal recessive forms include SCN3 (OMIM ), caused by mutation in the HAX1 gene (OMIM ) on 1q21; SCN4 (OMIM ), caused by mutation in the G6PC3 gene (OMIM ) on 17q21; SCN5 (OMIM ), caused by mutation in the VPS45 gene (OMIM ) on 1q21; SCN6 (OMIM ), caused by mutation in the JAGN1 gene (OMIM ) on 3p25; and SCN7 (OMIM ) is caused by mutation in the CSF3R gene (OMIM ) on 1p34. X-linked SCN (SCNX ) is caused by mutation in the WAS gene (OMIM ) on Xp11.See also adult chronic idiopathic nonimmune neutropenia (OMIM ) and chronic benign familial neutropenia (OMIM ). Susceptibility to Myelodysplastic Syndrome/Acute Myeloid LeukemiaSCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R ) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia. Approximately 80% of SCN patients who develop AML are heterozygous for somatic CSF3R mutations (summary by Klimiankou et al., 2016).

CYCLIC NEUTROPENIA Is also known as cyclic hematopoiesis

Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Recurrent respiratory infections
  • Abdominal pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYCLIC NEUTROPENIA

Low match HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME


Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Low match RETICULAR DYSGENESIS


Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

RETICULAR DYSGENESIS Is also known as congenital aleukia|scid with leukopenia|de vaal disease|hematopoietic hypoplasia, generalized|reticular dysgenesia|congenital aleukocytosis|severe combined immunodeficiency with leukopenia|ak2 deficiency|aleukocytosis|generalized hematopoietic hypoplasia

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETICULAR DYSGENESIS

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

Top 5 symptoms//phenotypes associated to Anemia and Sepsis

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Autoimmune hemolytic anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neutropenia Failure to thrive Recurrent infections

Rare Symptoms - Less than 30% cases


Recurrent bacterial infections Pancreatic hypoplasia Recurrent skin infections IgA deficiency Carious teeth Ketoacidosis Inflammatory abnormality of the skin Hemolytic anemia Decreased antibody level in blood Severe combined immunodeficiency Autoimmunity Hyperglycemia Splenomegaly Eosinophilia Recurrent respiratory infections Hepatomegaly Intrauterine growth retardation Diabetes mellitus Malabsorption Congenital agranulocytosis Lymphadenopathy Absent gallbladder Annular pancreas Acholic stools Diabetic ketoacidosis Abnormal eosinophil morphology Jejunal atresia Hearing impairment Fever Monocytosis Cyclic neutropenia Duodenal atresia Meckel diverticulum Biliary atresia Intestinal atresia Hyperbilirubinemia Maternal diabetes Severe intrauterine growth retardation Iron deficiency anemia Anteriorly placed anus Tracheoesophageal fistula Ascites Intestinal malrotation Gastrointestinal hemorrhage Intellectual disability Leukopenia Weight loss Erythroderma Hepatitis Nephrotic syndrome Cardiac arrest Type I diabetes mellitus Abnormal intestine morphology Nephritis Abnormality of the coagulation cascade Arthritis Malnutrition Abnormality of the thyroid gland Thyroiditis Villous atrophy Immune dysregulation Ileus Intractable diarrhea Eczema Hypothyroidism Skin rash Hypoplasia of the thymus Dehydration Skin ulcer Lymphopenia Congenital neutropenia Abnormality of mitochondrial metabolism Chronic otitis media Combined immunodeficiency Cellular immunodeficiency Lack of T cell function Abnormality of neutrophils Impaired T cell function Granulocytopenia Abnormality of the thymus Aplasia of the thymus Aplasia/Hypoplasia of the thymus Agranulocytosis Oral ulcer Leukemia Recurrent aphthous stomatitis Recurrent mycobacterium avium complex infections Pneumonia Ectodermal dysplasia Bronchiectasis IgG deficiency Increased IgM level Impaired memory B cell generation Hyperkeratosis Interstitial pneumonitis Scarring Nail dystrophy Ichthyosis Palmoplantar keratoderma Nail dysplasia Abnormal blistering of the skin Autoimmune neutropenia B lymphocytopenia Palmoplantar hyperkeratosis Nausea and vomiting Muscular hypotonia Optic atrophy Respiratory distress Dystonia Renal insufficiency Lethargy Coma Decrease in T cell count Chorea Choreoathetosis Pancreatitis Hyperammonemia Hemiplegia/hemiparesis Renal tubular dysfunction Hypoplasia of dental enamel Milia Acute monocytic leukemia Growth abnormality Extramedullary hematopoiesis Abnormality of the lymph nodes Decreased platelet glycoprotein IIb-IIIa Fatigue Abdominal pain Global developmental delay Myelodysplasia Osteopetrosis Overlapping toe Increased antibody level in blood Myeloid leukemia Acute myeloid leukemia Thrombocytosis Periodontitis Abnormal thrombocyte morphology Cellulitis Atrophic scars Intermittent thrombocytopenia Skin vesicle Chronic diarrhea Meningitis Conjunctivitis Agammaglobulinemia Recurrent sinopulmonary infections Chronic oral candidiasis Petechiae Pain Hepatosplenomegaly Abnormal bleeding Epistaxis Subcutaneous nodule Leukocytosis Secretory diarrhea



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