Autosomal recessive diseases | |||||||||
Disease | OMIM | Worldwide frequency | Frequency in SLSJ | Carrier rate in SLSJ | Gene | Founder mutations in SLSJ | Founder allele frequency in SLSJ | Founder allele frequency (gnomAD)** | References |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) | 270550 | N/A | 1/1932 | 1/22 | SACS |
| 0.926 | 610−5 | 19 25 28 |
| 0.037 | 10−5 | |||||||
Agenesis of corpus callosum and peripheral neuropathy (ACCPN) | 218000 | N/A | 1/2117 | 1/23 | SLC12A6 |
| 0.99 | 310−5 | 31 32 |
| N/A | N/A | |||||||
Leigh syndrome, French-Canadian type (LSFC) | 220111 | 1/40 000 | 1/2000 | 1/23 | LRPPRC |
| 0.99 | 510−5 | 10 35 |
Tyrosinemia type I (TYRSN1) | 276700 | 1/120 000 | 1/1846 | 1/20 | FAH |
| 0.9 | 310−4 | 38 39 |
Cystic fibrosis (CF) | 219700 | 1/2000 | 1/902 | 1/15 | CFTR |
| N/A | 710−3 | 49 51 |
| N/A | 610−5 | |||||||
| N/A | 210−5 | |||||||
Mucolipidosis (I-cell disease) | 252500 | N/A | 1/6184 | 1/39 | GNPTAB |
| N/A | 410−4 | 4 64 |
Vitamin D–dependent rickets type 1 (VDDR1) | 264700 | N/A | 1/2916 | 1/27 | CYP27B1 |
| N/A | 310−5 | 76 77 |
| N/A | N/A | |||||||
Familial dysbetalipoproteinemia (type III hyperlipoproteinemia) | 617347 | 1/5000 | 1/1000 | 1/7 | APOE |
| N/A | N/A | 81–84 |
Lipoprotein lipase deficiency (LPLD) | 238600 | 1–2/ 1 000 000 | 1/5000 | 1/40 | LPL |
| N/A | 10−4 | 87 160 |
| N/A | 410−5 | |||||||
| N/A | 210−5 | |||||||
Cystinosis | 219800 | 0.5–1.0/100 000 | 1/11 939 | 1/39 | CTNS |
| N/A | 410−5 | 4 |
Zellweger syndrome (ZS) | 601539 | N/A | 1/12 191 | 1/55 | PEX6 |
| N/A | 10−5 | 6 11 |
Naxos disease (NXD) | 601214 | N/A | N/A | N/A | JUP |
| N/A | 10−5 | 147 148 |
Autosomal dominant diseases | |||||||||
Myotonic dystrophy type 1 (DM1) | 160900 | 2.1–14.3/100 000 | 158/100 000 |
-
| DMPK |
| N/A | N/A | 12 98 |
Familial hypercholesterolaemia (FH) | 143890 | Heterozygous 1/250 Homozygous 1/300 000 | Heterozygous 1/120 | - | LDLR |
| N/A | N/A | 81 107 108 113 |
| N/A | 210−5 | |||||||
| N/A | 310−6 | |||||||
| N/A | 310−6 | |||||||
Epidermolysis bullosa simplex (EBS) | 131760 131900 131800 | 6–30/100 000 | N/A | - |
KRT5
KRT14 | KRT5 : | 152 153 | ||
| N/A | N/A | |||||||
| N/A | N/A | |||||||
KRT14: | |||||||||
| N/A | N/A |
-, not applicable; N/A, not available.