Abnormality of the skeletal system, and Ulcerative colitis

Diseases related with Abnormality of the skeletal system and Ulcerative colitis

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


Top matches:

Low match INFLAMMATORY BOWEL DISEASE 29; IBD29


Inflammatory bowel disease is a chronic inflammatory condition of the gastrointestinal tract (summary by Mohanan et al., 2018).For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (OMIM ).

Related symptoms:

  • Inflammation of the large intestine
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 29; IBD29

Low match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6


Related symptoms:

  • Arthritis
  • Systemic lupus erythematosus
  • Rheumatoid arthritis
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6

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Other less relevant matches:

Low match INFLAMMATORY BOWEL DISEASE 13; IBD13


Related symptoms:

  • Inflammation of the large intestine


SOURCES: OMIM MESH MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 13; IBD13

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 INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1


Related symptoms:

  • Growth delay
  • Neoplasm
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1

Low match IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY


Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.

IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY Is also known as lectin complement activation pathway, defect in, 2|lcapd2

Related symptoms:

  • Pneumonia
  • Myalgia
  • Erythema
  • Autoimmunity
  • Sepsis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY

Low match IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B


IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia (summary by Ma et al., 2017).

IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B Is also known as atopic dermatitis, elevated ige, and eosinophilia

Related symptoms:

  • Recurrent infections
  • Pneumonia
  • Asthma
  • Lymphoma
  • Decreased antibody level in blood


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B

Low match AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION


Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.

AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION Is also known as aplaid

Related symptoms:

  • Cataract
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION

Low match COLORECTAL CANCER; CRC


Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

COLORECTAL CANCER; CRC Is also known as colon cancer

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Oligodontia
  • Colon cancer
  • Colitis


SOURCES: OMIM MENDELIAN

More info about COLORECTAL CANCER; CRC

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Ulcerative colitis

Symptoms // Phenotype % cases
Colitis Common - Between 50% and 80% cases
Inflammation of the large intestine Uncommon - Between 30% and 50% cases
Erythema Rare - less than 30% cases
Systemic lupus erythematosus Rare - less than 30% cases
Recurrent infections Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Ulcerative colitis. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Colon cancer Pneumonia Immune dysregulation Neoplasm IgA deficiency Cellulitis Abnormal blistering of the skin Immunodeficiency Arthralgia Cataract T-cell lymphoma Atopic dermatitis Eosinophilia Corneal erosion Enterocolitis Recurrent sinopulmonary infections IgM deficiency Inflammatory abnormality of the skin Bronchiolitis Interstitial pneumonitis Carcinoma Oligodontia Renal cell carcinoma Retinoblastoma Leiomyosarcoma Endometrial carcinoma Colorectal polyposis Transitional cell carcinoma of the bladder Hereditary nonpolyposis colorectal carcinoma Neoplasm of the stomach Lymphopenia Complement deficiency Decreased antibody level in blood Intestinal obstruction Arthritis Rheumatoid arthritis Juvenile rheumatoid arthritis Anemia Jaundice Hemolytic anemia Growth delay Diarrhea Abdominal pain Weight loss Psoriasiform dermatitis Abnormality of the gastrointestinal tract Lymphoma Cholangitis Recurrent aphthous stomatitis Chronic infection Crohn's disease Sclerosing cholangitis Myalgia Autoimmunity Sepsis Recurrent pneumonia Vasculitis Chronic obstructive pulmonary disease Asthma Uterine leiomyosarcoma



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