Phenotypic Series - PS300908
| Phenotype Mapping Key |
|---|
| 1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known. |
| 2 - The disorder was placed on the map by statistical methods. |
| 3 - The molecular basis of the disorder is known. |
| 4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved. |
Phenotypic Series - PS300908
Anemia, congenital, nonspherocytic hemolytic - PS300908 - 10 Entries
| Location | Phenotype | Inheritance | Phenotype mapping key | Phenotype MIM number | Gene/Locus | Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1q22 | Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient | AR | 3 | 266200 | PKLR | 609712 |
| 6p12.1 | Anemia, congenital, nonspherocytic hemolytic, 7 | AR | 3 | 230450 | GCLC | 606857 |
| 7p14.3 | Anemia, congenital, nonspherocytic hemolytic, 8 | AR | 3 | 266120 | NT5C3A | 606224 |
| 8p12 | Anemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient | AR | 3 | 618660 | GSR | 138300 |
| 9q34.11 | Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient | AR | 3 | 612631 | AK1 | 103000 |
| 10q22.1 | Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient | AR | 3 | 235700 | HK1 | 142600 |
| 19q13.11 | Anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient | AR | 3 | 613470 | GPI | 172400 |
| 20q11.22 | Anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient | AR | 3 | 231900 | GSS | 601002 |
| Xp11.23 | Anemia, congenital, nonspherocytic hemolytic, 9 | XLR | 3 | 301083 | GATA1 | 305371 |
| Xq28 | Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient | XL | 3 | 300908 | G6PD | 305900 |
| Phenotype Mapping Key |
|---|
| 1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known. |
| 2 - The disorder was placed on the map by statistical methods. |
| 3 - The molecular basis of the disorder is known. |
| 4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved. |
| Inheritance Abbreviations | |
|---|---|
| ?AD | ?Autosomal dominant |
| ?XLR | ?X-linked recessive |
| AD | Autosomal dominant |
| AR | Autosomal recessive |
| PD | Pseudoautosomal dominant |
| PR | Pseudoautosomal recessive |
| DD | Digenic dominant |
| DR | Digenic recessive |
| ICB | Inherited chromosomal imbalance |
| IC | Isolated cases |
| Mi | Mitochondrial |
| Mu | Multifactorial |
| SMo | Somatic mosaicism |
| SMu | Somatic mutation |
| XL | X-linked |
| XLD | X-linked dominant |
| XLR | X-linked recessive |
| YL | Y-linked |
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: April 4, 2025
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