The dynamic cilium in human diseases

D'Angelo, Anna; Franco, Brunella

doi:10.1186/1755-8417-2-3

PathoGenetics

Table 1 Ciliary proteins associated with human genetic disease.

From: The dynamic cilium in human diseases

Human Disease	Hereditary transmission	Disease pathology	OMIM number	Gene symbol	References
Primary Ciliary Dyskinesia	Autosomal recessive	Respiratory infections, anosmia, male infertility, otitis media and situs inversus	604366	DNAI1	[67]
			603335	DNAH5	[68]
			603339	DNAH11	[69]
			612444	DNAI2	[70]
			607421	TXNDC3	[71]
			612650	RSPH9	[72]
			612650	RSPH4A	[72]
Meckel-Gruber syndrome	Autosomal recessive	Brain malformation, polydactyly, kidney and liver cysts	249000	MKS1, BBS13	[79]
			607361	MKS3, TMEM, JBTS6	[81]
			611134	MKS4, CEP290, JBTS5	[78]
			611561	MKS5, RPGRIP1L, JBTS7	[80]
			612013	MKS6, CC2D2A	[77]
Autosomal dominant form of polycystic kidney disease	Autosomal dominant	Polycystic kidney	601313	PKD1	[32]
			173910	PKD2	[33]
Autosomal recessive form of polycystic kidney disease	Autosomal recessive	Polycystic kidney	606702	PKHD1	[88]
Nephronophthisis type 1 (juvenile)	Autosomal recessive	Kidney cysts, liver fibrosis, retinal dysplasia	607100	NPHP1	[100]
Nephronophthisis type 2 (infantile)			602088	NPHP2, INV	[96]
Nephronophthisis type 3 (adolescent)			608002	NPHP3	[95]
Nephronophthisis type 4			607215	NPHP4	[101]
Nephronophthisis type 5			602937	NPHP5/IQCB1I	[97]
Nephronophthisis type 6			610142	NPHP6/CEP290	[99]
Nephronophthisis type 7			611498	NPHP7, GLIS2	[98]
Nephronophthisis type 8			610937	NPHP8, RPGRIP1L	[80]; [102]
Nephronophthisis type 9			609799	NPHP9, NEK8	[103]
Joubert syndrome 1	Autosomal recessive	CNS abnormalities, kidney cysts, brain and retina malformations	608629	AHI1	[108]
Joubert syndrome 4			609583	NPHP1	[107]
Joubert syndrome 5			610188	NPHP6/CEP290	[110]
Joubert syndrome 6			610688	MKS3, TMEM, JBTS6	[84]
Joubert syndrome 7			611560	MSK5, RPGRIP1L, JBTS7	[80]; [109]
Retinitis pigmentosa 1	Autosomal recessive	Retinal degeneration	180100	RP1	[117]
Retinitis pigmentosa 3	X-linked recessive		300389	RPGR*	[118]
Senior-Loken syndrome 1	Autosomal recessive	Renal dysfuntions and retinal degeneration	266900	NPHP1	[119]
Senior-Loken syndrome 4			606996	NPHP4	[101]
Senior-Loken syndrome 5			609254	NPHP5/IQCB1	[97]
Senior-Loken syndrome 6			610189	NPHP6/CEP290	[99]
Oral-facial-digital syndrome type I	X-linked dominant	Malformations of the face, oral cavity and digits, kidney cysts	311200	OFD1	[121]
Bardet-Biedl syndrome	Autosomal recessive	Kidney cysts, obesity, anosmia, retinal dystrophy, male infertility, situs inversus, diabetes	209901	BBS1	[128]
			606151	BBS2	[123]
			608845	BBS3, ARL6	[131]
			600374	BBS4	[130]
			603650	BBS5	[127]
			604896	BBS6, MKKS	[124]
			607590	BBS7	[129]
			608132	BBS8, TTC8	[126]
			607968	BBS9, PTHB1	[133]
			610148	BBS10	[125]
			602290	BBS11, TRIM32	[132]
			610683	BBS12	[134]
			609883	BBS13, MKS1	[135]
			609883	BBS14, CEP290	[135]
Almström syndrome	Autosomal recessive	Retinitis pigmentosa, deafness, obesity and diabetes mellitus	203800	ALMS1	[143, 144]

*Note that Moore and colleagues found mutations in the RPGR gene in patients affected by both primary ciliary dyskinesia (PCD) and retinitis pigmentosa (RP) indicating an X-linked transmission of PCD [76].

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