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1.

Nephroblastoma

A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN. [from MeSH]

MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
2.

Wilms Tumor

MedGen UID:
1314613
Concept ID:
CN659022
Disease or Syndrome
3.

Wilms tumor 1

Aniridia is characterized by complete or partial iris hypoplasia usually (but not always) with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular abnormalities (often of later onset) include cataract, glaucoma, and corneal opacification and vascularization. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region controlling its expression, or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Individuals with deletion of PAX6 and WT1 are at up to a 50% risk of developing Wilms tumor. [from GTR]

MedGen UID:
447509
Concept ID:
CN033288
Disease or Syndrome
4.

46,XY sex reversal, type 2

Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures.People with Swyer syndrome have typical female external genitalia. The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life.People with Swyer syndrome are typically raised as girls and have a female gender identity. Because they do not have functional ovaries, affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and uterine growth. Hormone replacement therapy also helps reduce the risk of reduced bone density (osteopenia and osteoporosis). Women with this disorder do not produce eggs (ova), but they may be able to become pregnant with a donated egg or embryo.Swyer syndrome usually affects only sexual development; such cases are called isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome may also occur along with health conditions such as nerve problems (neuropathy) or as part of a syndrome such as campomelic dysplasia, which causes severe skeletal abnormalities. [from GTR]

MedGen UID:
341190
Concept ID:
C1848296
Disease or Syndrome
5.

Drash syndrome

Denys-Drash syndrome is a condition that affects the kidneys and genitalia.Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Denys-Drash syndrome, this condition often leads to kidney failure in childhood. People with Denys-Drash syndrome have an estimated 90 percent chance of developing a rare form of kidney cancer known as Wilms tumor. Affected individuals may develop multiple tumors in one or both kidneys.Although males with Denys-Drash syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The testes of affected males are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. As a result, males with Denys-Drash are typically unable to have biological children (infertile).Affected females usually have normal genitalia and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome. [from GTR]

MedGen UID:
181980
Concept ID:
C0950121
Disease or Syndrome
6.

Male pseudohermaphroditism

Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. [from HPO]

MedGen UID:
68666
Concept ID:
C0238395
Congenital Abnormality
7.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
8.

Pseudohermaphroditism

A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex. [from NCI]

MedGen UID:
10991
Concept ID:
C0033804
Congenital Abnormality
9.

Sex reversal

Development of the reproductive system is inconsistent with the chromosomal sex. [from HPO]

MedGen UID:
868596
Concept ID:
C4022995
Finding
10.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
11.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
12.

Klippel Trenaunay syndrome

Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.Malformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE).Other complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly). [from GTR]

MedGen UID:
9646
Concept ID:
C0022739
Congenital Abnormality; Disease or Syndrome
13.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
14.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
15.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
16.

Growth substance

Signal molecules that are involved in the control of cell growth and differentiation. [from MeSH]

MedGen UID:
315661
Concept ID:
C1812630
Biologically Active Substance; Pharmacologic Substance
17.

Mullerian regression factor

A glycoprotein that causes regression of MULLERIAN DUCTS. It is produced by SERTOLI CELLS of the TESTES. In the absence of this hormone, the Mullerian ducts develop into structures of the female reproductive tract. In males, defects of this hormone result in persistent Mullerian duct, a form of MALE PSEUDOHERMAPHRODITISM. [from MeSH]

MedGen UID:
73364
Concept ID:
C0066928
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
18.

Abnormality of the genitourinary system

The presence of any abnormality of the genitourinary system. [from HPO]

MedGen UID:
52948
Concept ID:
C0042063
Congenital Abnormality
19.

Growth Inhibitors

Endogenous or exogenous substances which inhibit the normal growth of human and animal cells or micro-organisms, as distinguished from those affecting plant growth (= PLANT GROWTH REGULATORS). [from MeSH]

MedGen UID:
42306
Concept ID:
C0018282
Biologically Active Substance; Pharmacologic Substance
20.

Sex Development Disorder

In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. [from MeSH]

MedGen UID:
20725
Concept ID:
C0036875
Congenital Abnormality
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