Breast carcinoma, and Primary amenorrhea

Diseases related with Breast carcinoma and Primary amenorrhea

In the following list you will find some of the most common rare diseases related to Breast carcinoma and Primary amenorrhea that can help you solving undiagnosed cases.


Top matches:

High match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY


17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.

46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY Is also known as 17-ketosteroidreductase deficiency|17-ketosteroid reductase deficiency of testis|pseudohermaphroditism, male, with gynecomastia|17-ketoreductase deficiency|17-ksr deficiency|neutral 17-beta-hydroxysteroid oxidoreductase deficiency|17-beta-hydroxysteroid d

Related symptoms:

  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Infertility
  • Hirsutism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY

Medium match HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA; HH22


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism is caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA; HH22

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Other less relevant matches:

Medium match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY


Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY Is also known as adrenal hyperplasia ii|hsdb|3-beta-hsd deficiency

Related symptoms:

  • Hypospadias
  • Micropenis
  • Hirsutism
  • Amenorrhea
  • Ambiguous genitalia


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY

Medium match LEYDIG CELL HYPOPLASIA, TYPE I


Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000). ReviewsArnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to isolated LH deficiency (HH23 ) are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor: all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB (OMIM ) mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG ) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.

LEYDIG CELL HYPOPLASIA, TYPE I Is also known as leydig cell agenesis|leydig cell hypoplasia, complete|hypergonadotropic hypogonadism, male, due to lhcgr defect|leydig cell hypoplasia with male pseudohermaphroditism

Related symptoms:

  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation
  • Hypogonadism
  • Micropenis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEYDIG CELL HYPOPLASIA, TYPE I

Medium match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Medium match ISOLATED FOLLICLE STIMULATING HORMONE DEFICIENCY


Subnormal concentration of follicle stimulating hormone.

ISOLATED FOLLICLE STIMULATING HORMONE DEFICIENCY Is also known as isolated fsh deficiency|follicle-stimulating hormone deficiency, isolated

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Delayed skeletal maturation
  • Hypogonadism
  • Delayed puberty
  • Infertility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED FOLLICLE STIMULATING HORMONE DEFICIENCY

Medium match HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Delayed skeletal maturation


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8

Medium match HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 Is also known as ihh|hypogonadism, isolated hypogonadotropic|idiopathic hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7

Medium match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY


46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Breast carcinoma and Primary amenorrhea

Symptoms // Phenotype % cases
Micropenis Common - Between 50% and 80% cases
Amenorrhea Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Decreased testicular size Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Primary amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Infertility Gynecomastia Hypogonadotrophic hypogonadism Secondary amenorrhea Male pseudohermaphroditism Delayed skeletal maturation Anosmia Hearing impairment Sensorineural hearing impairment Polycystic ovaries Cleft palate Breast aplasia Hypospadias Ambiguous genitalia Delayed puberty Sparse axillary hair Sparse pubic hair Decreased fertility Hypergonadotropic hypogonadism Short stature Osteoporosis

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Decreased serum estradiol Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Meningioma Progeroid facial appearance Neoplasm of the lung Chondrocalcinosis Congestive heart failure Prematurely aged appearance Ovarian neoplasm Bifid scrotum Telangiectasia of the skin Aplasia/Hypoplasia of the skin Lack of skin elasticity Pili torti Retinal degeneration Subcutaneous calcification Hyperkeratosis Diabetes mellitus Abnormality of metabolism/homeostasis Neoplasm of the oral cavity Premature arteriosclerosis Neoplasm of the small intestine Abnormal hair whorl Abnormality of the testis Oligospermia Azoospermia Alopecia Sparse body hair White forelock Gonadotropin deficiency Lipoatrophy Hirsutism Skin ulcer Abnormality of the hair Insulin resistance Narrow face Increased bone mineral density Abnormality of retinal pigmentation Premature graying of hair Decreased body weight Female hypogonadism Primary gonadal insufficiency Laryngomalacia Absence of secondary sex characteristics Decreased serum testosterone level Male hypogonadism Abnormality of the voice Hypoplasia of the uterus Type II diabetes mellitus Reduced bone mineral density Convex nasal ridge Abnormality of the thorax Failure to thrive Rocker bottom foot Hypertension Prominent superficial veins Short palm Exercise-induced myalgia Hepatic steatosis Abnormal hair quantity Limitation of joint mobility Abnormality of the pulmonary artery Premature ovarian insufficiency Hypertriglyceridemia Osteolytic defects of the phalanges of the hand Fragile nails Insulin-resistant diabetes mellitus Hip dysplasia Mitral valve prolapse Thin skin Aortic valve stenosis Finger clinodactyly Glycosuria Neoplasm of the skin Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Generalized lipodystrophy Hyperglycemia Hyperinsulinemia Calf muscle hypertrophy Pain Neoplasm of the breast Elevated circulating luteinizing hormone level Osteopenia Abnormality of the eye Abnormality of eye movement Bilateral cryptorchidism Microphallus Bimanual synkinesia Elevated circulating follicle stimulating hormone level Ambiguous genitalia, male Delayed thelarche Enlarged polycystic ovaries Decreased fertility in females Dysmenorrhea Hypoplasia of the vagina Decreased fertility in males Female external genitalia in individual with 46,XY karyotype Abnormal sex determination Abnormality of creatine metabolism Bilateral breast hypoplasia Hyperplasia of the Leydig cells Aortic valve calcification Decreased muscle mass Fasting hyperinsulinemia Abnormality of the Achilles tendon Neoplasm of the thyroid gland Intervertebral disc degeneration Progressive clavicular acroosteolysis Patchy hypo- and hyperpigmentation Sclerosis of hand bone Abnormality of circulating leptin level Oligomenorrhea Abnormal sperm morphology Cataract Visual impairment Menstrual irregularities Testicular atrophy Decreased female libido Decreased testosterone in males Eunuchoid habitus Delayed menarche Thin vermilion border Hypopigmentation of the skin Congenital cataract Premature loss of teeth High pitched voice Polyphagia Scleroderma Myeloid leukemia Leukemia Subcapsular cataract Alopecia of scalp Polyuria Pulmonary artery stenosis Posterior subcapsular cataract Slender build Thyroid carcinoma Enlarged joints Arteriosclerosis Narrow nasal ridge Squamous cell carcinoma Polydipsia Chorioretinitis Spontaneous abortion Chest pain Small hand Myocardial infarction Sparse scalp hair Hoarse voice Nephropathy Type I diabetes mellitus Myelodysplasia Macular degeneration Atherosclerosis Melanoma Sarcoma Dermal atrophy Lipodystrophy Cutaneous melanoma Soft tissue sarcoma Hypotrichosis Aplasia of the uterus Adrenal hyperplasia Renal salt wasting Perineal hypospadias Premature pubarche Absent scrotum Increased circulating gonadotropin level Abnormal external genitalia Coma Enlarged ovaries Abnormal internal genitalia Testicular gonadoblastoma Abnormal vas deferens morphology Hyoplasia of the Leydig cells Micrognathia Pes planus Peripheral neuropathy Abnormality of the dentition Poliosis Carcinoma Gastrointestinal carcinoma Aplasia/Hypoplasia of the testes Acral lentiginous melanoma Retinopathy Hypothyroidism Joint stiffness Proptosis Behavioral abnormality Neoplasm Impotence Congenital hypothyroidism Rod-cone dystrophy Abnormality of the ovary Abnormality of the urethra Premature adrenarche Decreased circulating androgen level



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