Talk:Kallmann syndrome
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New gene table with symptoms
[edit]
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.
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: 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.