P | NPD type | Gender | Age at diagnosis | Age of onset | Phenotype and notes | Genotype | Amino acid changes | Intragenic position | ASM activity |
---|---|---|---|---|---|---|---|---|---|
1 | A | male | 1y | 1 m | HP, PR, diarrhea, RG, death at 3 years 5 months | [c.842-849dup8] + [c.742G>T] | p.His284SerfsX17 / p.Glu248X | E2 / E2 | 0 |
2 | A | female | 2y | 3 m | HP, PR, RG, PF | [c.842-849dup8] + [c.1451C>T] | p.His284SerfsX17 / p.Ala484Val | E2 / E5 | 0 |
3 | A | female | 11 m | 5 m | HP, PG, RG, anemia, leucocytopenia, RR, died at age 1 | [c.842-849dup8] + [c.742G>T] | p.His284SerfsX17 / p.Glu248X | E2 / E2 | 2.3 |
4 | A | male | 1y4m | 5 m | HP, hypotonia,diarrhea, elevated TG, death at 20 m | [c.1309T>C] + [c.1598C>T; c.1621G>A] | p.Trp437Arg / (p.Pro533Leu; p.Ala541Thr) | E4 / E6 | 4.9 |
5 | A | male | 6 m | 3 m | HP, hypotonia, PF | [c.842-849dup8] +[c.842-849dup8] | p.His284SerfsX17 / p.His284SerfsX17 | E2 / E2 | 1.7 |
6 | A | female | 3 m | after birth | HP, jaundice, hypotonia,PF | [c.842-849dup8] + [c.742G>T; c.1445T>C] | p.His284SerfsX17 / (p.Glu248X; p.Phe482Ser) | E2 / (E2;E5) | 0.6 |
7 | A | female | 2y | 3 m | HP, hypotonia, RR, died at 1y | [c.842-849dup8] +[c.1458T>G] | p.His284SerfsX17 / p.Ser486Arg | E2 / E5 | unknown |
8 | A | male | 1y4m | 6 m | diarrhea, HP, hypotonia, PR | [c.1382A>C] +[IVS5+5G>C] | p.His461Pro | E5 | 3.5 |
9 | intermediate | male | 7y | 7 m | HP, RG, SS, MR at age 5, ascites, hypoproteinemia, died at age 9 y | [c.4delC] + [c.688C>T] | p.Arg3AlafsX76 / p.Arg230Cys | E1 / E2 | 3.6 |
10 | intermediate | male | 5y | 2y | HP, SS, RG, anemia, leucocytopenia, ascites, hypoproteinemia,MR at age 4, died at age 6 y, PF | [c.4delC] + [c.742G>T] | p.Arg3AlafsX76 / p.Glu248X | E1 / E2 | 3.4 |
11 | intermediate | female | 8y | 8y | HP, moderate MR | c.1458T>G | p.Ser486Arg | E5 | 1.2 |
12 | intermediate | male | 2y | 6 m | HP, RG | [c.4delC] +[c.1458T>G] | p.Arg3AlafsX76 / p.Ser486Arg | E1 / E5 | 3.8 |
13 | B | male | 6y4m | 1y | HP, SS, RG, anemia | [c.688C>T] + [c.1288C>T] | p.Arg230Cys / p.Pro430Ser | E2 / E4 | 0 |
14 | B | male | 1y10m | 1y | HP, RG | [c.1026G>T] +[1492C>T] | p.Trp342Cys / p.Arg498Cys | E2 / E5 | 0 |
15 | B | female | 1y8m | after birth | HP, PF | [c.1095-1096insG] +[c.748A>C; c.1411G>A] | p.Phe368ValfsX22 / (p.Ser250Arg; p.Glu471Lys) | E3 /(E2;E5) | 5.9 |
16 | B | female | 22y | 22y | amenorrhea, pancytopenia, HP | [c.1144C>T] +[c.1565A>G] | p.Leu382Phe / p.Asn522Ser | E3 / E6 | 3.1 |
17 | B | male | 1y3m | 10 m | HP | [c.4delC]+[c.4delC] | p.Arg3AlafsX76 /p.Arg3AlafsX76 | E1 / E1 | 3.6 |
18 | B | male | 13y | 2y | HP | [c.1458T>G] +[c.1675G>T] | p.Ser486Arg/ p.Val559Leu | E5 / E6 | 5.6 |
19 | B | female | 46y | unknown | HP, splenectomy at age 46 years,PF | [c.1565A>G] +[c.1565A>G] | p.Asn522Ser / p.Asn522Ser | E6 / E6 | 7.3 |
20 | B | female | 2y | 1y | HP, RG | [c.759C>A] + [c. 1351 A >C] | p.Glu253Asp/ p.Thr451Pro | E2 /E5 | 2.75 |
21 | B | female | 3y | 1y | HP, microproteinuria | undetected | Â | Â | 2.4 |
22 | B | female | 3y7m | after birth | diarrhea, HP, PF | [c.4delC]+[c.4delC] | p.Arg3AlafsX76 / p.Arg3AlafsX76 | E1 / E1 | 4.8 |
23 | B | female | 1y8m | after birth | HP | [c.147-150del4] +[c.1144C>T] | p.Ser50ThrfsX26 / p.Leu382Phe | E1 / E3 | 2 |
24 | B | male | 7y6m | 7y | HP, RG, SS | [c.4delC]+[c.4delC] | p.Arg3AlafsX76 / p.Arg3AlafsX76 | E1 / E1 | 1.4 |
25 | B | female | 12y | 10 m | HP, proteinuria, ascites, RG, splenectomy at age 9, died at age 13 | c.1006G>A | p.Gly336Ser | E2 | 4.9 |
26 | B | female | 2y4m | 2y | HP, anemia | [c.1286C>T] +[c.1451C>T] | p.Pro429Leu / p.Ala484Val | E4 / E5 | 3.1 |
27 | B | female | 1y | 1y | HP, anemia | [c.1307-1312dup6] + [c.1497-1498GT>AC] | p.436-437dup2 / p.Tyr500His | E4 / E6 | 3 |