Table 2.

Genetic Diseases with Olfactory Phenotype

#	Disease	Olfactory impairment	Associated genes	Reference
1	Kallmann syndrome	Anosmia, hyposmia	KAL1*, AKAP2, FGF8*†, FGFR1*†, KISS1R, PROK2*†, PROKR2 *†, NELF*, CHD7*, TAC3, TACR3	[Lewkowitz-Shpuntoff et al., 2012]
2	Bardet–Biedl syndrome (BBS)	Anosmia, hyposmia	BBS1*†, BBS2†, ARL6, BBS4*†, BBS5, MKKS†, BBS7, TTC8†, BBS9, BBS10, TRIM32, BBS12	[Kulaga et al., 2004]
3	Meckel–Gruber syndrome (MKS)	Anosmia	MKS1†, MKS2, TMEM67†, CEP290*†, BBS1*†, BBS4*†, NPHP3	[Ahdab-Barmada and Claassen, 1990]
4	Polycystic kidney disease (PKD)	Anosmia	PKD1†, PKD2†, NPHP3	[Pluznick et al., 2011]
5	Leber congenital amaurosis (LCA)	Anosmia	CEP290*†, GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1†, CRX, CRB1, LCA9, IMPDH1, RD3, RDH12, LRAT, TULP1, LCA3	[McEwen et al., 2007]
6	Refsum disease (RD)	Anosmia	PEX7*, PHYH*	[Gibberd et al., 2004]
7	McKusick-Kaufman syndrome (MKS)	Hyposmia	MKKS†	[Fath et al., 2005]
8	Aniridia	Anosmia, hyposmia	PAX6*†	[Sisodiya et al., 2001]
9	Congenital analgesia	Anosmia	SCN9A*†	[Weiss et al., 2011]
10	CHARGE syndrome	Anosmia, hyposmia	CHD7*, SEMA3E	[Bergman et al., 2010]
11	Septo-optic dysplasia (SOD)	Anosmia	HESX1*†	[Ribeiro et al., 2009]
12	Pseudohypoparathyroidism (PHP) 1a	Impaired discrimination	GNAS†	[Doty et al., 1997]
13	Huntington’s disease	Impaired discrimination	HTT*†	[Lazic et al., 2007]
14	DiGeorge syndrome (Chromosome 22q11 deletion)	Hyposmia	Chromosome 22q11 deletion*, CHD7*	[Sanka et al., 2007; Sobin et al., 2006]
15	6q27 microdeletion	Anosmia	Chromosome 6q27 deletion*	[Gerber et al., 2011]
16	Turner syndrome (45XO karyotype)	Hyposmia	Chromosome X deletion*	[Valkov et al., 1975]

Some genes are associated with more than one disease;

^*indicates that olfactory performance was tested in humans with known genotype;

^†knockout.

Diseases #2–7 are ciliopathies. MKS is the acronym for two diseases (#3,7).