Anemia, and Inflammation of the large intestine

Diseases related with Anemia and Inflammation of the large intestine

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


Top matches:

Low match BLOOD GROUP, LANGEREIS SYSTEM; LAN


Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features (summary by Helias et al., 2012).

Related symptoms:

  • Anemia
  • Jaundice
  • Hemolytic anemia
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, LANGEREIS SYSTEM; LAN

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

Low match HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE


Familial Behcet-like autoinflammatory syndrome is an autosomal dominant disorder characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional more variable features include skin rash, uveitis, and polyarthritis. Symptoms become apparent in the first or second decades. The disorder results from inappropriate activation of inflammatory cytokines; treatment with tumor necrosis factor (TNF ) inhibitors may be beneficial (summary by Zhou et al., 2016).

HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE Is also known as behÇet-like disease due to haploinsufficiency of a20|behÇet-like disease due to ha20

Related symptoms:

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Skin rash
  • Hemolytic anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE

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Other less relevant matches:

Low match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12


Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 Is also known as nfkb1 deficiency

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

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 PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

Low match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Low match MPI-CDG


MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Top 5 symptoms//phenotypes associated to Anemia and Inflammation of the large intestine

Symptoms // Phenotype % cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Colitis Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Inflammation of the large intestine. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Enterocolitis Seizures Lymphopenia Thrombocytopenia Fever Recurrent infections Vomiting

Rare Symptoms - Less than 30% cases


Apnea Edema Abnormal facial shape Hepatomegaly Secretory diarrhea Chronic diarrhea Abnormality of the liver Cirrhosis Hepatitis Villous atrophy Intellectual disability Dysgammaglobulinemia Coma Recurrent skin infections Lymphoma Abnormality of the coagulation cascade Decreased antibody level in blood Skin rash Abnormal intestine morphology Pancytopenia Increased serum ferritin Hypertriglyceridemia Splenomegaly Malabsorption Autoimmunity Recurrent respiratory infections Autoimmune hemolytic anemia Hemiparesis Hematuria Hypofibrinogenemia Nephropathy Stage 5 chronic kidney disease Proteinuria Purpura Erythema nodosum Tachycardia Abnormality of metabolism/homeostasis Decreased liver function Short stature Pain Fatigue Cardiomyopathy Hypertension Arthralgia Cognitive impairment Diffuse alveolar hemorrhage Myalgia Disseminated intravascular coagulation Loss of consciousness Arthritis Renal insufficiency Anuria Hyperlipidemia Hypoproteinemia Hepatic steatosis Abnormal bleeding Gastrointestinal hemorrhage Lymphedema Hepatic fibrosis Hypoalbuminemia Hyperinsulinemic hypoglycemia Generalized edema Hypoglycemia Congenital hepatic fibrosis Protein-losing enteropathy Abnormal thrombosis Type I transferrin isoform profile Microvesicular hepatic steatosis Intestinal lymphangiectasia Reduced antithrombin III activity Reduced factor XI activity Hepatic failure Muscular hypotonia Dysphasia Microangiopathic hemolytic anemia Abnormality of blood and blood-forming tissues Acute kidney injury Reticulocytosis Elevated serum creatinine Hemolytic-uremic syndrome Complement deficiency Increased blood urea nitrogen Hemophagocytosis Azotemia Generalized hypotonia Abnormal lactate dehydrogenase activity Schistocytosis Decreased serum complement C3 Decreased serum complement factor B Abnormality of complement system Decreased serum complement factor I Decreased serum complement factor H Decreased level of thrombomodulin Folliculitis Postnatal microcephaly Immune dysregulation Intrauterine growth retardation Lupus anticoagulant Genital ulcers Growth delay Hypertelorism Depressed nasal bridge Wide nasal bridge Prominent forehead Anterior uveitis Sparse hair Small for gestational age Wide nose Brittle hair Microcytic anemia Woolly hair Polyarticular arthritis Oral ulcer Hypochromic microcytic anemia Bronchiolitis Ulcerative colitis Eczema Recurrent otitis media Combined immunodeficiency Severe combined immunodeficiency Decrease in T cell count Bronchiolitis obliterans Antinuclear antibody positivity Decreased proportion of CD8-positive T cells Recurrent gastroenteritis Neoplasm Episodic fever Autoimmune thrombocytopenia Uveitis Trichorrhexis nodosa Bloody diarrhea Aplastic anemia Fetal distress Metabolic acidosis Abdominal distention Brain atrophy Jaundice Clonus Muscle fibrillation Prenatal movement abnormality Generalized tonic-clonic seizures Hepatosplenomegaly Irritability Respiratory tract infection Erythema Acne Abnormality of the gastrointestinal tract Poor speech Acidosis Chronic hepatitis Chronic obstructive pulmonary disease Intractable diarrhea Pili canaliculi Uncombable hair Decreased serum iron Alopecia IgA deficiency Recurrent sinopulmonary infections Myoclonus Global developmental delay Microcephaly Ventriculomegaly Respiratory insufficiency Respiratory distress Hypoplasia of the corpus callosum Hypertonia Lymphangiectasis



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