Table 1.

Genes Classified as NPHP Genes

Gene 1, 2Locus% of All NPH 3NPH Subtype(s) 4Extrarenal Features 3, 5
Most common genes
NPHP1 NPHP1 20%-25%Juvenile, adultRP, neurologic involvement, liver dz
NPHP4 NPHP4 3%-4%Juvenile, adultRP, neurologic involvement, liver dz, CHD (all infrequent)
CEP290 NPHP6 2%-3%Infantile, juvenile, adultRP, neurologic involvement, liver dz, Leber congenital amaurosis
IQCB1 NPHP5 2%-3%Juvenile, adultRP (in all persons), Leber congenital amaurosis, neurologic involvement
TMEM67 NPHP11 2%-3%Infantile, juvenile, adultRP, neurologic involvement, liver dz, polydactyly 6
INVS NPHP2 1%-2%Infantile, juvenileRP, neurologic involvement, liver dz, situs inversus, 7 CHD
NPHP3 NPHP3 1%-2%Infantile, juvenile, adultRP, neurologic involvement, liver dz, situs inversus, CHD
Less common genes
ADAMTS9 NPHP21 <1%Infantile, juvenileDeafness, short stature, DD
ANKS6 NPHP16 <1%Infantile, juvenile, adultNeurologic involvement, liver dz, situs inversus, CHD
CEP83 NPHP18 <1%Infantile, juvenileRP, neurologic involvement, liver dz
CEP164 NPHP15 <1%JuvenileRP, neurologic involvement, liver disease, Leber congenital amaurosis, polydactyly 6
DCDC2 NPHP19 <1%JuvenileLiver dz, deafness
GLIS2 NPHP7 <1%Juvenile
IFT172 NPHP17 <1%Infantile, juvenile, adultRP, neurologic involvement, liver dz, skeletal anomalies, 8 polydactyly
MAPKBP1 NPHP20 <1%Juvenile, adultScoliosis, facial dysmorphisms 9
NEK8 NPHP9 <1%Infantile, juvenileLiver dz, situs inversus, CHD, pancreas anomalies 10
RPGRIP1L NPHP8 <1%Infantile, juvenile, adultRP, neurologic involvement, liver dz, polydactyly
SDCCAG8 NPHP10 <1%Infantile, juvenile, adultRP, neurologic involvement, obesity, hypogenitalism 11
TTC21B NPHP12 <1%Infantile, juvenileNeurologic symptoms, liver dz, situs inversus, skeletal anomalies 8
WDR19 NPHP13 <1%Infantile, juvenileRP, liver dz (esp Caroli disease), pancreas anomalies, skeletal anomalies
ZNF423 NPHP14 <1%InfantileNeurologic involvement, situs inversus

CHD = congenital heart disease; DD = developmental delay; dz = disease; RP = retinitis pigmentosa

1.

Genes are listed first by frequency of causation of nephronophthisis-related ciliopathies, and then alphabetically.

2.
3.
4.
5.

Non-obligatory extrarenal features that may be present at the time of diagnosis or appear over time

6.

Presence of supernumerary fingers and/or toes. Postaxial polydactyly is most prevalent in ciliopathies.

7.

Condition in which the organs in the thorax and abdomen are positioned in a mirror image of their normal position

8.

Skeletal anomalies include short stature, narrow thorax, brachydactyly, and polydactyly.

9.

Tentative association in one (scoliosis) and two (facial dysmorphisms) families

10.

Pancreas anomalies include cystic enlargement of the pancreas or fibrosis depending on the type of mutation.

11.

Underdevelopment of genital organs, such as cryptorchidism and micropenis in males and hypoplasia of labia minora in females

From: Nephronophthisis-Related Ciliopathies

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