Anemia, and Ulcerative colitis

Diseases related with Anemia and Ulcerative colitis

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


Top matches:

Medium 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 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

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

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Other less relevant matches:

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

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5


Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

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

Top 5 symptoms//phenotypes associated to Anemia and Ulcerative colitis

Symptoms // Phenotype % cases
Colitis Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Hemolytic anemia 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 Ulcerative colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Enterocolitis Lymphopenia Decreased antibody level in blood Fever Short stature Vomiting Failure to thrive Seizures

Rare Symptoms - Less than 30% cases


Microcephaly Global developmental delay Splenomegaly Recurrent infections Intellectual disability Recurrent respiratory infections Pancytopenia Hepatosplenomegaly Respiratory tract infection Chronic diarrhea Hypertriglyceridemia Abnormal intestine morphology Increased serum ferritin Pain Arthralgia Arthritis Abnormality of the coagulation cascade Secretory diarrhea Edema Coma Villous atrophy Apnea Hepatitis Cirrhosis Skin rash Inflammation of the large intestine Autoimmune thrombocytopenia Abnormal facial shape Hepatomegaly Intrauterine growth retardation Abnormality of the liver Small for gestational age Growth delay Bone marrow hypocellularity Muscular hypotonia Atopic dermatitis Decreased level of thrombomodulin Autoimmunity Generalized hypotonia Autoimmune hemolytic anemia Scleroderma Hypoglycemia Decreased serum complement factor I Malabsorption Hepatic failure Hepatic steatosis Abnormal bleeding Gastrointestinal hemorrhage Lymphedema Celiac disease Decreased serum complement factor H Pneumonia Interstitial pulmonary abnormality Anuria Reticulocytosis Primary hypothyroidism Elevated serum creatinine Hemolytic-uremic syndrome Complement deficiency Increased blood urea nitrogen Microangiopathic hemolytic anemia Abnormality of complement system Recurrent ear infections Azotemia Abnormal lactate dehydrogenase activity Schistocytosis Decreased serum complement C3 Diabetes mellitus Decreased serum complement factor B Hepatic fibrosis Type I diabetes mellitus Nail dysplasia Delayed puberty Reduced factor XI activity Lymphangiectasis Abnormality of blood and blood-forming tissues Cerebellar atrophy Depressivity Cerebellar hypoplasia Postnatal growth retardation Intestinal lymphangiectasia Nail dystrophy Carious teeth Abnormality of skin pigmentation Oral leukoplakia Leukemia Pulmonary fibrosis Leukopenia Reduced antithrombin III activity Microvesicular hepatic steatosis Abnormal lung morphology Abnormality of the dentition Inflammatory abnormality of the skin Hypoalbuminemia Hyperinsulinemic hypoglycemia Hypothyroidism Hypoproteinemia Eczema Neutropenia Type I transferrin isoform profile Esophageal stenosis Lymphadenopathy Generalized edema Congenital hepatic fibrosis Esophageal stricture Protein-losing enteropathy Abnormal thrombosis Acute kidney injury Myalgia Dysphasia Decreased serum iron Hypochromic microcytic anemia Bloody diarrhea Chronic hepatitis Intractable diarrhea Pili canaliculi Uncombable hair Ventriculomegaly Woolly hair Respiratory insufficiency Respiratory distress Hypoplasia of the corpus callosum Hypertonia Myoclonus Acidosis Generalized tonic-clonic seizures Trichorrhexis nodosa Microcytic anemia Metabolic acidosis Polyarticular arthritis Neoplasm Episodic fever Uveitis Antinuclear antibody positivity Oral ulcer Anterior uveitis Lupus anticoagulant Brittle hair Genital ulcers Hypertelorism Depressed nasal bridge Wide nasal bridge Prominent forehead Sparse hair Wide nose Poor speech Abdominal distention Hyperlipidemia Cardiomyopathy Tachycardia Decreased liver function Loss of consciousness Disseminated intravascular coagulation Diffuse alveolar hemorrhage Cognitive impairment Hypertension Renal insufficiency Fatigue Abnormality of metabolism/homeostasis Proteinuria Stage 5 chronic kidney disease Nephropathy Hematuria Hemiparesis Purpura Jaundice Hypofibrinogenemia Brain atrophy Lymphoma Postnatal microcephaly Clonus Muscle fibrillation Fetal distress Prenatal movement abnormality Irritability Erythema Recurrent skin infections Dysgammaglobulinemia Acne Abnormality of the gastrointestinal tract Aplastic anemia Immune dysregulation Hemophagocytosis Folliculitis Erythema nodosum Interstitial pneumonitis



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