Abnormality of the skeletal system, and Hodgkin lymphoma

Low match NON-HODGKIN LYMPHOMA

Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system.

NON-HODGKIN LYMPHOMA Is also known as nhl|non-hodgkin lymphoma

• Neoplasm
• Leukemia
• Lymphoma
• Hodgkin lymphoma
• B-cell lymphoma

SOURCES: ORPHANET OMIM MENDELIAN

Low match DRUG METABOLISM, ALTERED, CES1-RELATED

Carboxylesterase-1 (OMIM ) is a widely expressed serine esterase that is involved in the hydrolysis of multiple amide-containing and ester-containing endogenous and xenobiotic compounds including therapeutic agents such as methylphenidate, oseltamivir, angiotensin-converting enzyme inhibitors (e.g., trandolapril and temocapril), and anticancer drugs (e.g., capecitabin). In addition, CES1 is the primary enzyme responsible for metabolizing clopidogrel and its derivatives (summary by Lewis et al., 2013).

• Hyperactivity
• Leukemia
• Lymphoma
• Hodgkin lymphoma
• Chronic lymphatic leukemia

SOURCES: OMIM MENDELIAN

Low match LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE

The concept of mucosa-associated lymphoid tissue (MALT) lymphomas was introduced by Isaacson and Wright (1983). MALT lymphomas are now recognized as a distinct subtype of non-Hodgkin lymphoma (OMIM ). B-cell lymphomas of mucosa-associated lymphoid tissue (MALT lymphomas) are the most common form of lymphoma arising in extranodal sites, in most cases arising in the gastric mucosa (Isaacson and Spencer, 1995).

LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE Is also known as malt lymphoma|gastric lymphoma, primary

• Neoplasm
• Immunodeficiency
• Lymphoma
• Hodgkin lymphoma
• Gastric ulcer

SOURCES: OMIM ORPHANET MENDELIAN

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO CTPS1 DEFICIENCY

Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella)), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CTPS1 DEFICIENCY Is also known as scid due to ctps1 deficiency

• Immunodeficiency
• Lymphoma
• Lymphopenia
• Hodgkin lymphoma
• Decreased proportion of CD4-positive T cells

SOURCES: ORPHANET OMIM MENDELIAN

Low match USHER SYNDROME, TYPE IIA; USH2A

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See {276900} for clinical characterization of Usher syndrome types I, II, and III. Genetic Heterogeneity of Usher Syndrome Type IIUsher syndrome type II is genetically heterogeneous. USH2C (OMIM ) can be caused by mutation in the ADGRV1 gene (OMIM ) or by biallelic digenic mutation in the ADGRV1 and PDZD7 (OMIM ) genes. USH2D (OMIM ) is caused by mutation in the WHRN gene (OMIM ).The locus designation USH2B has been withdrawn; see HISTORY.

• Hearing impairment
• Sensorineural hearing impairment
• Blindness
• Depressivity
• Rod-cone dystrophy

SOURCES: OMIM MENDELIAN

Low match COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5

Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (OMIM ).

• Neoplasm
• Carcinoma
• Lymphoma
• Breast carcinoma
• Colon cancer

SOURCES: MESH OMIM MENDELIAN

Low match HYPERPLASTIC POLYPOSIS SYNDROME

Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.

HYPERPLASTIC POLYPOSIS SYNDROME Is also known as serrated polyposis

SOURCES: ORPHANET MENDELIAN

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

• Seizures
• Global developmental delay
• Anemia
• Immunodeficiency
• Recurrent infections

SOURCES: ORPHANET OMIM MENDELIAN

Low match NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015).For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM ).

NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as nthl1-related attenuated fap|nthl1-related afap

• Neoplasm
• Carcinoma
• Nevus
• Lymphoma
• Neoplasm of the skin

SOURCES: OMIM ORPHANET MENDELIAN

Low match OVARIAN CANCER

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

• Neoplasm
• Pain
• Fatigue
• Respiratory distress
• Vomiting

SOURCES: OMIM ORPHANET MENDELIAN