WA 0859 3970 0884 Layanan Pasang Pintu Kaca Untuk Ruang Dapur Murah Magelang Utara Magelang

PMID 21682876 . ^ a b Kallmann FJ, Schönfeld WA, Barrera SE (1943–1944). "The genetic aspects of primary eunuchoidism".

WDR11, PROKR2, ANOS1, CHD7, FGFR1, PROK2, FGF8, SOX10, KISS1R, TACR3, SEMA3A, NSMF, CCDC141, FEZF1, HESX1, FLRT3, SOX3, OTX2, SOX2, ARNT2, DCC, DUSP6, HS6ST1, SPRY4, IL17RD, FGF17, GNRHR, GNRH1, KISS1, GHRH, CSHL1, NR5A1, SERPINA4, STS, NR0B1, PRKAR2A, FN1, SSTR4, SEMA7A, BRD2, ADRA2B, ADRA1A, TUBB3, PLXNA1, BRS3, EDNRA, GPR42, IHH, ACKR3, CXCR6, LPAR2, NTN1, NRP1, SEMA3E, EBF2, RMST, TSHZ1, PALM2AKAP2, LINC01672, PROP1, NRP2, SCEL, AMH, ANK1, AXL, CD44, CD55, EMX1, EMX2, FGF1, GLI3, ANOS2P, LEP, LEPR, NDN, NT5E, NTRK1, PAX2, PCSK1, POMC, PRL, RMRP, ROBO1, SHOX, SIX3, RN7SL263P

Hypogonadotropic Hypogonadism 16 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because of evidence that susceptibility to hypogonadotropic hypogonadism-16 with or without anosmia (HH16) can be conferred by variation in the SEMA3A gene (603961) on chromosome 7, sometimes in association with mutations in other genes, e.g., KAL1 (300836) and FGFR1 (136350). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because autosomal dominant hypogonadotropic hypogonadism-6 with or without anosmia (HH6) is caused by heterozygous mutation in the fibroblast growth factor-8 gene (FGF8; 600483) on chromosome 10q24, sometimes in association with mutation in another gene, e.g., FGFR1 (136350). Description 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; 152760) 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).
Kallmann Syndrome 1 GARD

Kallmann syndrome 1 is an inherited disorder characterized by delayed or absent puberty and an impaired sense of smell. Other symptoms may include color blindness , cleft lip or palate , abnormal eye movements, hearing loss, failure of one of the kidneys to develop, mirror image hand movements, abnormalities of tooth development, and infertility . This disorder is a form of hypogonadotropic hypogonadism . Affected males are usually born with a small penis and undescended testicles. Affected females usually do not begin menstruating at puberty and have little or no breast development. Kallmann syndrome 1 is the most common type of Kallmann syndrome (there are four types identified at this time).
Septo-Optic Dysplasia Spectrum Orphanet

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. Epidemiology Incidence is estimated at 1/10,000 live births. Clinical description Severity varies and only 30% of patients manifest the complete clinical triad with many patients having associated findings. Some patients present at birth with SOD associated with multiple congenital anomalies, whereas others present during childhood with growth failure and/or visual anomalies (most frequently strabismus or nystagmus). The optic nerve hypoplasia can be uni- or bilateral (57% and 32% of cases, respectively) and significant visual impairment occurs in 23% of patients. Hypopituitarism is present in 62-80% of patients and although growth hormone deficiency (leading to short stature in childhood) is the most frequent endocrine anomaly, additional hormone insufficiencies may develop (thyroid-stimulating, adrenocorticotropic and gonadotropin-releasing hormone deficiencies).
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because hypogonadotropic hypogonadism-1 with or without anosmia (HH1) is caused by mutation in the KAL1 gene (300836) on chromosome Xp22.3, sometimes in association with mutation in another gene, e.g., PROKR2 (607123). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-22 with or without anosmia (HH22) is caused by homozygous mutation in the FEZF1 gene (613301) on chromosome 7q31. Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-14 with or without anosmia (HH14) can be caused by heterozygous mutation in the WDR11 gene (606417) on chromosome 10q26. Description 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; 152760) 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).
Kallmann Syndrome Orphanet

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). Epidemiology The prevalence is estimated at 1/8,000 males and 1/40,000 females, but is probably underestimated. Clinical description Most cases are diagnosed at the time of puberty due to lack of sexual development, but KS may also be suspected in infancy in males with cryptorchidism, micropenis or associated non reproductive signs. The main clinical features consist of the absence of complete spontaneous puberty and a partial or total impairment of the sense of smell (anosmia) in both sexes. Untreated adult males usually have decreased bone density and muscle mass, decreased testicular volume (< 4 mL), erectile dysfunction, diminished libido and infertility.
Kallmann Syndrome GARD

Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development. It may first be suspected in infancy in males with undescended testicles or a small penis. Symptoms in untreated, adult males may include decreased bone density and muscle mass; small testicles; erectile dysfunction ; low sex drive; and infertility.
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because hypogonadotropic hypogonadism-8 with or without anosmia (HH8) is caused by homozygous or compound heterozygous mutation in the GPR54 gene (KISS1R; 604161) on chromosome 19p13, sometimes in association with mutation in other genes, e.g., IL17RD (606807). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because hypogonadotropic hypogonadism-2 with or without anosmia (HH2) is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-1 (FGFR1; 136350) on chromosome 8p11, sometimes in association with mutation in other genes, e.g., FGF8 (600483) and GNRHR (138850). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because hypogonadotropic hypogonadism-17 with or without anosmia (HH17) can be caused by heterozygous mutation in the SPRY4 gene (607984) on chromosome 5q31, sometimes in association with mutations in other genes, e.g., FGFR1 (136350) and DUSP6 (602748). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-18 with or without anosmia (HH18) is caused by heterozygous or homozygous mutation in the IL17RD gene (606807) on chromosome 3p14, sometimes in association with mutation in other genes, e.g., FGFR1 (136350) and KISS1R (604161). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because hypogonadotropic hypogonadism-19 with or without anosmia (HH19) can be caused by heterozygous mutation in the DUSP6 gene (602748) on chromosome 12q22, sometimes in association with mutations in other genes, e.g., FGFR1 (136350) and SPRY4 (607984). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because hypogonadotropic hypogonadism-20 with or without anosmia (HH20) can be caused by heterozygous mutation in the FGF17 gene (603725) on chromosome 8p21, sometimes in association with mutations in other genes, e.g., FGFR1 (136350), HS6ST1 (604846), and FLRT3 (604808). Description 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; 152760) 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).
Kallmann Syndrome MedlinePlus

Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development. These hormones are normally made in a part of the brain called the hypothalamus. Males born with hypogonadotropic hypogonadism often have an unusually small penis (micropenis) and undescended testes (cryptorchidism). At puberty, most affected individuals do not develop secondary sex characteristics, such as the growth of facial hair and deepening of the voice in males, the start of monthly periods (menstruation) and breast development in females, and a growth spurt in both sexes.
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because hypogonadotropic hypogonadism-21 with or without anosmia (HH21) can be caused by heterozygous mutation in the FLRT3 (604808) gene on 20p11, sometimes in association with mutations in other genes, e.g., FGFR1 (136350), HS6ST1 (604846), and FGF17 (603725). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because of evidence that susceptibility to hypogonadotropic hypogonadism-15 with or without anosmia (HH15) can be conferred by variation in the HS6ST1 gene (604846) on chromosome 2q14, sometimes in association with mutations in other genes, e.g., FGFR1 (136350) and NELF (608137). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because autosomal dominant hypogonadotropic hypogonadism-9 with or without anosmia (HH9) is caused by heterozygous mutation in the NELF gene (NSMF; 608137) on chromosome 9q34, sometimes in association with mutation in other genes, e.g., FGFR1 (136350) and HS6ST1 (604846). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because hypogonadotropic hypogonadism-11 with or without anosmia (HH11) can be caused by homozygous mutation in the TACR3 gene (162332) on chromosome 4q24. Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because autosomal dominant hypogonadotropic hypogonadism-4 with or without anosmia (HH4) is caused by heterozygous mutation in the prokineticin-2 gene (PROK2; 607002) on chromosome 3p13, sometimes in association with mutation in another gene, e.g., PROKR2 (607123). Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because autosomal dominant hypogonadotropic hypogonadism-5 with or without anosmia (HH5) is caused by heterozygous mutation in the chromodomain helicase DNA-binding protein-7 gene (CHD7; 608892) on chromosome 8q12. Description 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; 152760) 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).
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia OMIM

A number sign (#) is used with this entry because hypogonadotropic hypogonadism-3 with or without anosmia (HH3) is caused by heterozygous mutation in the G protein-coupled prokineticin receptor-2 gene (PROKR2; 607123) on chromosome 20p12, sometimes in association with mutation in another gene, e.g., KAL1 (300836). Description 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; 152760) 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).

Wilson's Disease Wikipedia

Williams & Wilkins. pp. 1298 . ISBN 978-0-683-18242-2 . ^ Shaver WA, Bhatt H, Combes B (1986). "Low serum alkaline phosphatase activity in Wilson's disease".

ATP7B, ANXA5, CP, APOE, PRNP, IL6, AHCY, LOX, TNF, IL10, LOXL2, A2M, SNCA, NDUFB7, PPP3CB, PPP3CA, CXCL8, CAMK2A, TIMP1, HAMP, ASMT, SDHAF2, BHMT, ANKS1B, ATP7A, CYP27B1, HMGCR, SMPD1, ESD, ATOX1, COMMD1, HFE, MBD6, ALB, TP53, SLC31A1, GPT, MBD1, PANK2, SERPINA1, PNOC, STON1, IL1B, GCH1, GTF2A1L, STON1-GTF2A1L, AFM, G6PD, BDNF, FXN, ARSA, GLUL, BMS1, SLC39A14, TBC1D9, FNDC3A, PDCD10, ATHS, CCL27, AHSA1, CCS, XPR1, GRAP2, CHMP2B, PRC1, AIMP2, XRCC5, BEST1, VEGFA, VCAM1, TYR, TXN, RNF19A, SLC17A5, ATRNL1, IGAN1, ACACA, CCDC115, PNPLA3, DNAJC5, ASRGL1, ALPP, PAGR1, SLC39A8, CPAT1, RBPJP4, POLDIP2, AMELX, XIAP, NAT10, INO80, IL23A, GOLM1, ZDHHC2, PDLIM3, CALCR, BRAF, CAT, GALNS, THRB, MT1X, ACE, LTA, DDIT3, DMD, KDR, IDO1, IL13, DMRT1, DNAH8, DRD2, IL2, IL1RN, IL1R1, IL1A, HNF4A, FOXA2, FOXA1, GAST, GRM5, GPX1, MTF1, MTHFR, SERPINA3, MAPK8, SPG7, SOD2, CFTR, CLU, SLPI, RXRA, RB1, PROP1, SLC31A2, MAPK1, DBH, CRK, CRP, PPARG, MAPK14, CTNNB1, ABCB1, PAH, OPA1, SLC11A2, NDUFAB1

Wilson's Disease Mayo Clinic

Overview Wilson's disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson's disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well. Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and excess is excreted through a substance produced in your liver (bile). But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level.
Wilson Disease MedlinePlus

Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems. Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling.
Wilson Disease Orphanet

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Wilson Disease OMIM

A number sign (#) is used with this entry because Wilson disease is caused by homozygous or compound heterozygous mutation in the ATP7B gene (606882) on chromosome 13q14. Description Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Wilson disease. Clinical Features In Wilson disease, the basal ganglia and liver undergo changes that express themselves in neurologic manifestations and signs of cirrhosis, respectively. A disturbance in copper metabolism is somehow involved in the mechanism.
Wilson Disease GeneReviews

Summary Clinical characteristics. Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.
Wilson Disease GARD

Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner. Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.

Acute Megakaryoblastic Leukemia Wikipedia

. ^ Marshall GM, Carter DR, Cheung BB, Liu T, Mateos MK, Meyerowitz JG, Weiss WA (April 2014). "The prenatal origins of cancer" .

GATA1, JAK3, BIRC5, TP53, SRF, MRTFA, PTEN, RUNX1, RBM15, ACTB, IL3, JAK2, GLIS2, MAL, KMT2A, CBFA2T3, FANCB, CXCL9, CMPK1, CSF2, ERG, NUP98, MPO, TRIB1, THPO, NRAS, CBSL, KDM5A, GP1BA, MECOM, SH2D1A, PICALM, MLLT10, IL6, IL11, EVPL, IGHV1-12, ETV6, CCR7, AKT1, PTPN4, MIR100HG, APCS, PML, CBS, PF4, CD38, ITGA2B, DYRK1A, CSF1R, EPO, AURKA, TNF, RPS6KB1, VDR, TGFB1, RPS19, SUMO3, SLC25A1, THBD, STAT1, STAT3, TEK, TFRC, TNS1, ESPL1, VIPR1, VWF, ZNF587B, MIR486-1, MIR125B2, MIR99AHG, GLIS3, GLIS1, TIRAP, MYOCD, SCIN, TMEM241, CLPTM1L, MRTFB, A4GALT, CCDC28A, PRAME, ARC, SPEN, GNLY, DLC1, ABCC4, RBM6, SNAP91, FXR2, ABCG2, SPHK1, AP3B1, LOH19CR1, GFI1B, PAX8, RNASE3, ABL1, RAP1A, RAF1, FLT3, FOXO3, FOXO1, FGFR1, BPTF, F3, F2, ETS2, EPOR, DECR1, CCN2, CRP, CDA, CD36, CD8A, RUNX1T1, CALM3, CALM2, CALM1, ATM, APOC2, APOC1, ANPEP, ANK1, ANGPT1, ALB, AHR, G6PD, GAPDH, GLI1, MPL, PTGIR, PRB1, PPIA, ABCB1, PFN2, PFN1, PDGFB, TNFRSF11B, NTRK1, NME1, MYH11, MYCN, MLLT3, HBG1, LOX, ITGAM, ITGAL, IL6R, IL2, IL1B, IL1A, RBPJ, TNC, HOXC5, MNX1, HBG2, NCAM1

X-Linked Severe Combined Immunodeficiency Wikipedia

In Pagon RA, Bird TD, Dolan CR, Stephens K (eds.). GeneReviews® [Internet] . Seattle WA: University of Washington. PMID 20301584 .

IL2RG, IL4, IL2, IL15, IL7, CD34, LINC02605, JAK3, IL9, EBI3, IL18R1, ADA, LMO2, GH1, IL21, BTK, CD40, IL7R, FUT1, IL22, TBC1D9, CORO1A, AICDA, DCLRE1C, DLL4, MTA2, AAVS1, CDR3, WAS, TRBV20OR9-2, ABCB1, PGK1, IL13, GHR, ATN1, CD40LG, AR, JAK1

X-Linked Severe Combined Immunodeficiency MedlinePlus

X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy. Frequency X-linked SCID is the most common form of severe combined immunodeficiency.
Severe Combined Immunodeficiency, X-Linked OMIM

A number sign (#) is used with this entry because T-, B+, NK- X-linked severe combined immunodeficiency (SCID) is caused by mutation in the gene encoding the gamma subunit of the interleukin-2 receptor (IL2RG; 308380). See also X-linked combined immunodeficiency (312863), a less severe form of the disorder that is also caused by mutation in the IL2RG gene. An autosomal recessive form of T-, B+, NK- SCID (600802) is caused by mutation in the JAK3 gene (600173) on chromosome 19p13. For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457. Clinical Features Severe combined immunodeficiency differs from the Bruton type (300755) of agammaglobulinemia by the additional presence of lymphocytopenia ('alymphocytosis'), earlier age at death, vulnerability to viral and fungal as well as bacterial infections, lack of delayed hypersensitivity, atrophy of the thymus, and lack of benefit from gamma globulin administration.
X-Linked Severe Combined Immunodeficiency GeneReviews

Summary Clinical characteristics. X-linked severe combined immunodeficiency (X-SCID) is a combined cellular and humoral immunodeficiency caused by a hemizygous pathogenic variant in IL2RG . In typical X-SCID lack of IL2RG function results in near-complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes. X-SCID is almost universally fatal in the first two years of life unless reconstitution of the immune system is achieved through bone marrow transplant or gene therapy. In the absence of family history of X-SCID and prior to newborn screening for X-SCID, most males with typical X-SCID come to medical attention between ages three and six months with failure to thrive, oral/diaper candidiasis, absent tonsils and lymph nodes, recurrent infections, infections with opportunistic organisms such as Pneumocystis , and persistence of infections despite conventional treatment. Additional common features include rashes, diarrhea, cough and congestion, fevers, pneumonia, sepsis, and other severe bacterial infections.
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency Orphanet

Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. Epidemiology It accounts for approximately 50% of SCID cases and is the most common form of SCID in Europe. The annual incidence varies among the populations but it is estimated at approximately 1/200,000 births. The disease occurs in males. Clinical description SCID-X1 manifests during the first months of life with severe and often life threatening viral, bacterial or fungal infections (e.g. Pneumocystis jiroveci pneumonitis , disseminated BCG infection if previously vaccinated), and failure to thrive.
Combined Immunodeficiency, X-Linked OMIM

A number sign (#) is used with this entry because X-linked combined immunodeficiency (CIDX) is caused by mutation in the gene encoding the gamma subunit of the interleukin-2 receptor (IL2RG; 308380). X-linked severe combined immunodeficiency (SCIDX1; 300400) is caused by mutation in the same gene. Clinical Features Brooks et al. (1990) described a family in which 5 living males had a form of combined immunodeficiency inherited in an X-linked recessive pattern. The disorder was different from the previously described forms of X-linked immunodeficiency and specifically different from SCIDX1. The age of the 5 affected males ranged from 2.5 to 34 years. The most prominent clinical abnormalities were paucity of lymphoid tissue; recurrent sinusitis, otitis media, bronchitis, and pneumonia; severe varicella; and chronic papillomavirus infections.
X-Linked Severe Combined Immunodeficiency GARD

X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the immune system. Signs and symptoms often become apparent in early infancy and include failure to thrive ; oral/diaper candidiasis (yeast infection); absent tonsils and lymph nodes; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. X-SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner; it only affects males. The condition is typically fatal in the first two years of life unless treated with a bone marrow transplant or gene therapy.

Proteopathy Wikipedia

. ^ Nelson PT, Alafuzoff I, Bigio EH, Bouras C, Braak H, Cairns NJ, Castellani RJ, Crain BJ, Davies P, Del Tredici K, Duyckaerts C, Frosch MP, Haroutunian V, Hof PR, Hulette CM, Hyman BT, Iwatsubo T, Jellinger KA, Jicha GA, Kövari E, Kukull WA, Leverenz JB, Love S, Mackenzie IR, Mann DM, Masliah E, McKee AC, Montine TJ, Morris JC, Schneider JA, Sonnen JA, Thal DR, Trojanowski JQ, Troncoso JC, Wisniewski T, Woltjer RL, Beach TG (May 2012).

Chronic Prostatitis/chronic Pelvic Pain Syndrome Wikipedia

PMID 29875042 . ^ Holt JD, Garrett WA, McCurry TK, Teichman JM (2016). "Common Questions About Chronic Prostatitis".

Hypercholesterolemia Wikipedia

.), "Familial Hypercholesterolemia" , GeneReviews® , Seattle (WA): University of Washington, Seattle, PMID 24404629 , retrieved 2021-01-04 ^ U.S.

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