Talk:Kallmann syndrome

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New gene table with symptoms[edit]

^[1]

^[2]

Prevalence (%)	OMIM	Name	Gene	Locus	Clinical features	Syndromes Associated	Inheritance pattern
5^[1], 5-10^[2]	308700	KAL1 (ANOS1)	KAL1	Xp22.3	Anosmia. Digital synkinesia. Unilateral renal agenesis. High arched palate.		x-linked
10^[1]^[2]	147950	KAL2	FGFR1	8p11.23	Cleft lip and / or cleft palate. Septo-optic dysplasia. Skeletal anomomalies. Bimanual synkinesia. Hand / foot malformation. Combined pituitary hormone deficiency. Missing teeth.	Hartsfield syndrome	Autosomal dominant
6-16^[1], 5-10^[2]	146110	GNRHR	GNRHR	4q13.2			Autosomal recessive
6^[1], 5-10^[2]	612370	CHD7	CHD7	8q12.2	Congenital hearing loss. Semicircular canal hypoplasia. Missing teeth. Coloboma. Short stature.	CHARGE syndrome	Autosomal dominant
3-6^[1], <2^[2]	610628	KAL4	PROK2	3p13	Anosmia		Autosomal recessive
3-6^[1], 5^[2]	244200	KAL3	PROKR2	20p12.3	Anosmia. Combined pituitary hormone deficiency.	Morning Glory syndrome	Autosomal recessive
3^[1], 2-5^[2]	615267	IL17RD	IL17RD	3p14.3	Anosmia.Congenital hearing loss.		Autosomal recessive
2^[1], 2-5^[2]	611584	SOX10	SOX10	22q13.1	Anosmia.Congenital hearing loss. Iris hypopigmentation.	Waardenburg syndrome	Autosomal dominant
2^[1], <2^[2]	614842	KISS1	KiSS-1	1q32.1			Autosomal recessive
2^[1], <2^[2]	614837	KISS1R (GPR54)	GPR54	19p13.3			Autosomal recessive
<2^[2]	612702	FGF8	FGF8	10q24.32	Anosmia.Cleft lip and / or cleft palate. Skeletal anomomolies. Bimanual synkinesia. Combined pituitary hormone deficiency. Hearing loss. Hand / foot malformation.		Autosomal dominant
<2^[1], 1 report^[2]	615270	FGF17	FGF17	8p21.3	Anosmia	Dandy-Walker syndrome	Autosomal dominant
<2^[1]	164260	LEP	LEP	7q32.1	Early onset of morbid obesity.		Autosomal recessive
<2^[1]	601007	LEPR	LEPR	1p31.3	Early onset of morbid obesity.		Autosomal recessive
<2^[1]	162150	PCSK1	PCSK1	5q15	Early onset of morbid obesity.		Autosomal recessive
Rare^[1], 1 report^[2]	616030	FEZF1	FEZF1	7q31.32	Anosmia		Autosomal recessive
Rare^[1], 1 report^[2]	616031	CCDC141	CCDC141	2q31.2	Anosmia		Unknown
Rare^[1], <2^[2]	614897	SEMA3A	SEMA3A	7q21.11	Anosmia. Hyposmia		Autosomal dominant
1 report^[2]	608166	SEMA3E	SEMA3E	7q21.11		Anosmia. CHARGE syndrome	Autosomal dominant
Rare^[1]	607961	SEMA7A	SEMA7A	15q24.1			Autosomal dominant
Rare^[1], <2^[2]	614880	HS6ST1	HS6ST1	2q14.3	Anosmia. Cleft lip and / or cleft palate. Skeletal anomalies.		Autosomal dominant
Rare^[1], 1 report^[2]	614858	WDR11	WDR11	10q26.12	Combined pituitary hormone deficiency.		Autosomal dominant
Rare^[1]	614838	NELF (NSMF)	NELF	9q34.3	Anosmia		Autosomal dominant
Rare^[1]	617351	IGSF10	IGSF10	3q24			Autosomal dominant
Rare^[1], <2^[2]	614841	GNRH1	GNRH1	8p21.2			Autosomal recessive
Rare^[1], <2^[2]	614839	TAC3	TAC3	12q3			Autosomal recessive
Rare^[1], 5^[2]	614840	TACR3	TACR3	4q24			Autosomal recessive
Rare^[1]	611744	OTUD4	OTUD4	4q31.21	Cerebellar ataxia.	Gordon Holmes syndrome	Autosomal recessive
Rare^[1]	609948	RNF216	RNF216	7p22.1	Cerebellar ataxia.	Gordon Holmes syndrome	Autosomal recessive
Rare^[1]	603197	PNPLA6	PNPLA6	19p13.2	Cerebellar ataxia.	Gordon Holmes syndrome	Autosomal recessive
1 report^[2]	109135	AXL	AXL	19q13.2	Anosmia		Unknown
Rare^[1]	612186	DMXL2	DMXL2	15q21.2	Polyendocrine deficiencies and polyneuropathy.		Autosomal recessive
Rare^[1]	300473	NR0B1 (DAX1)	NR0B1	Xp21.2	Adrenal hypoplasia.		x-linked
1 report^[2]	602748	DUSP6	DUSP6	12q21.33	Anosmia		Autosomal dominant
1 report^[2]	614366	POLR3B	POLR3B	12q23.3			Autosomal recessive
1 report^[2]	615266	SPRY4	SPRY4	5q31.3			Autosomal dominant
1 report^[2]	615271	FLRT3	FLRT3	20p12.1	Anosmia		Autosomal dominant
1 report^[2]	617264	SRA1	SRA1	19q13.33			Unknown
Rare^[1]	601802	HESX1	HESX1	3p14.3	Septo-optic dysplasia. Combined pituitary hormone deficiency.		Autosomal recessive and dominant

References

^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p ^q ^r ^s ^t ^u ^v ^w ^x ^y ^z ^aa ^ab ^ac ^ad ^ae ^af Lima Amato LG, Latronico AC, Gontijo Silveira LF (2017). "Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism". Endocrinol Metab Clin North Am. 46 (2): 283–303. doi:10.1016/j.ecl.2017.01.010. PMID 28476224.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p ^q ^r ^s ^t ^u ^v ^w ^x ^y ^z ^aa ^ab Balasubramanian R, Crowley WF Jr (2017). "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency". SourceGeneReviews® [Internet]. PMID 20301509.

[pmid:28476224-1] ^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p ^q ^r ^s ^t ^u ^v ^w ^x ^y ^z ^aa ^ab ^ac ^ad ^ae ^af Lima Amato LG, Latronico AC, Gontijo Silveira LF (2017). "Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism". Endocrinol Metab Clin North Am. 46 (2): 283–303. doi:10.1016/j.ecl.2017.01.010. PMID 28476224.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[pmid:20301509-2] ^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p ^q ^r ^s ^t ^u ^v ^w ^x ^y ^z ^aa ^ab Balasubramanian R, Crowley WF Jr (2017). "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency". SourceGeneReviews® [Internet]. PMID 20301509.

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