Talk:Kallmann syndrome

New gene table with symptoms

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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

  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)
  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.