Carcinoma, and Abnormality of the nervous system

Low match THYROID CARCINOMA, HURTHLE CELL

Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005).

THYROID CARCINOMA, HURTHLE CELL Is also known as hurthle cell thyroid neoplasia

• Carcinoma

SOURCES: MESH OMIM MENDELIAN

Low match NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3

Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by Dai et al., 2016)For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (OMIM ).

• Neoplasm
• Carcinoma

SOURCES: OMIM MENDELIAN

Low match SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC

Cancer of the head and neck that begins in squamous cells (thin, flat cells that form the surface of the skin, eyes, various internal organs, and the lining of hollow organs and ducts of some glands). Squamous cell carcinoma of the head and neck includes cancers of the nasal cavity, sinuses, lips, mouth, salivary glands, throat, and larynx (voice box). Most head and neck cancers are squamous cell carcinomas.

• Neoplasm
• Carcinoma
• Squamous cell carcinoma

SOURCES: OMIM MENDELIAN

Low match BLOOD GROUP, CROMER SYSTEM; CROM

The Cromer blood group system (CROM) consists of 12 high-prevalence and 3 low-prevalence antigens that reside on decay-accelerating factor (DAF, or CD55; {125240}), a regulator of complement activation. Nearly all Cromer antigens result from SNPs in the DAF gene. The red blood cells (RBCs) of people with the Cromer-null phenotype, Inab, lack DAF but do not appear to show increased susceptibility to hemolysis. Antibodies to Cromer antigens are rarely encountered, although evidence suggests that the antibodies may cause accelerated destruction of transfused RBCs. Cromer system antibodies are not associated with hemolytic disease of the newborn, because placenta is a rich source of fetally derived DAF, which is thought to absorb the antibodies (review by Storry et al., 2010).The Inab phenotype is associated with CHAPLE syndrome (OMIM ) in some individuals.

BLOOD GROUP, CROMER SYSTEM; CROM Is also known as cromer blood group system

• Neoplasm
• Carcinoma
• Abnormal intestine morphology
• Protein-losing enteropathy

SOURCES: OMIM MENDELIAN

Low match PILOMATRIXOMA

Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).

PILOMATRIXOMA Is also known as epithelioma calcificans of malherbe|pilomatricoma|ptr

• Neoplasm
• Carcinoma
• Neoplasm of the skin
• Pilomatrixoma

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match THYROID CANCER, NONMEDULLARY, 2; NMTC2

Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell (OMIM ), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, {175100}, Carney complex, {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009).Follicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by Bonora et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (OMIM ).

• Neoplasm
• Abnormality of metabolism/homeostasis
• Carcinoma
• Medullary thyroid carcinoma
• Follicular thyroid carcinoma

SOURCES: MESH OMIM MENDELIAN

Low match POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8

Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).For a discussion of genetic heterogeneity of porokeratosis, see {175800}.

• Carcinoma
• Papule
• Porokeratosis

SOURCES: OMIM MENDELIAN

Low match RENAL CELL CARCINOMA, XP11-ASSOCIATED; RCCX1

Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 (OMIM ) on chromosome 17q25 and PRCC (OMIM ) on 1q21, and more rarely, NONO (OMIM ) on Xq13, SFPQ (OMIM ) on 1p34, CLTC (OMIM ) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by Ross and Argani, 2010).For a discussion of genetic heterogeneity of renal cell carcinoma, see RCC (OMIM ).

• Neoplasm
• Carcinoma
• Renal cell carcinoma

SOURCES: OMIM MENDELIAN

Low match NASOPHARYNGEAL CARCINOMA

Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.

NASOPHARYNGEAL CARCINOMA Is also known as npca|squamous cell carcinoma of the nasopharynx|npc|nasopharyngeal cancer

• Neoplasm
• Carcinoma
• Neoplasia of the nasopharynx

SOURCES: ORPHANET OMIM MENDELIAN

Low match BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4; BROVCA4

• Neoplasm
• Carcinoma
• Ovarian neoplasm

SOURCES: OMIM MENDELIAN