Table 2.
Sex distribution of rare diseases monitored by RNMR with the highest relative frequencies in males or females. Dataset: Subset 1; Origin of notifications: all regions; Record selection: records with diagnosis indicating a specific disease (i.e., excluding disease groups) and at least four records per disease; Total records: 119,762.
| ORPHA Code | Disease | Records (N) | Females (%) | Males (%) | F:M Ratio and Other Literature Information Reported in ORPHANET Data Sheets [24] |
|---|---|---|---|---|---|
| 1791 | Frontofacionasal dysplasia | 7 | 100 | 0 | - |
| 209,981 | Iron refractory iron deficiency anemia | 4 | 100 | 0 | - |
| 881 | Turner syndrome | 1754 | 99 | 1 | Almost exclusively in F |
| 778 | Rett syndrome | 603 | 97 | 3 | Predominant in F |
| 538 | Lymphangioleiomyomatosis | 180 | 97 | 3 | Almost exclusively in F |
| 464 | Incontinentia pigmenti | 95 | 97 | 3 | 20:1 |
| 37,202 | Interstitial cystitis | 1192 | 95 | 5 | 9:1 |
| - | Storage pool deficiency | 11 | 91 | 9 | - |
| 816 | Sjögren-Larsson syndrome | 93 | 90 | 9 | - |
| - | Thrombocytopenic thrombotic purpura-hemolytic-uremic syndrome | 10 | 90 | 10 | - |
| 559 | Marinesco-Sjögren syndrome | 30 | 90 | 10 | - |
| 169,615 | Idiopathic central precocious puberty | 3686 | 89 | 11 | 10:1 |
| 98,973 | Posterior polymorphous corneal dystrophy | 8 | 88 | 13 | - |
| 79,473 | Porphyria variegata | 8 | 88 | 13 | Predominant in F |
| 1297 | Branchio-oculo-facial syndrome | 8 | 88 | 13 | - |
| 3143 | Schmidt syndrome | 72 | 86 | 14 | - |
| 1452 | Cleidocranial dysostosis | 7 | 86 | 14 | - |
| 429 | Hypochondroplasia | 7 | 86 | 14 | - |
| 809 | Mixed connective tissue disease | 1092 | 86 | 14 | 10:1 |
| 3287 | Takayasu arteritis | 346 | 85 | 14 | Predominant in F |
| 2483 | Melkersson-Rosenthal syndrome | 25 | 84 | 16 | - |
| 317 | Erythrokeratodermia variabilis | 6 | 83 | 17 | - |
| 98,958 | Droplet cornea | 17 | 82 | 18 | - |
| 436 | Hypophosphatasia | 11 | 82 | 18 | - |
| - | Secretion deficiency thrombocytopathy | 11 | 82 | 18 | - |
| 125 | Bloom syndrome | 5 | 80 | 20 | - |
| 79,273 | Hereditary coproporphyria | 5 | 80 | 20 | Predominant in F |
| 98,974 | Fuchs endothelial dystrophy | 30 | 80 | 20 | 3–4:1 |
| 581 | Mucopolysaccharidosis type 3 | 5 | 80 | 20 | - |
| 2059 | Fryns syndrome | 5 | 80 | 20 | - |
| 65,684 | Hirayama disease | 5 | 20 | 80 | 1:20 |
| 3447 | Weaver syndrome | 10 | 20 | 80 | - |
| 98,895 | Becker muscular dystrophy | 221 | 19 | 81 | Predominant in M |
| 379 | Chronic granulomatous disease | 87 | 18 | 82 | - |
| 221,117 | Gerstmann syndrome | 6 | 17 | 83 | - |
| 97,360 | Robinow syndrome | 6 | 17 | 83 | - |
| 478 | Kallmann syndrome | 509 | 16 | 84 | 1:5 |
| 101,330 | Porphyria cutanea tarda | 53 | 15 | 85 | Predominant in M |
| - | Opitz syndrome | 20 | 15 | 85 | - |
| 1466 | COFS syndrome | 7 | 14 | 86 | - |
| - | Simpson-Golabi-Behmel syndrome | 7 | 14 | 86 | - |
| 2796 | Pachydermoperiostosis | 15 | 13 | 87 | 1:7 |
| 481 | Kennedy disease | 51 | 12 | 88 | - |
| 98,879 | Hemophilia B | 271 | 11 | 89 | Predominant in M |
| 223 | Nephrogenic diabetes insipidus | 66 | 11 | 89 | - |
| 915 | Aarskog-Scott syndrome | 38 | 8 | 92 | Predominant in M |
| 98,878 | Hemophilia A | 1577 | 7 | 93 | Predominant in M |
| 98,896 | Duchenne muscular dystrophy | 258 | 5 | 95 | Predominant in M |
| 461 | Recessive X-linked ichthyosis | 65 | 3 | 97 | Almost exclusively in M |
| - | Klinefelter syndrome | 2071 | 0 | 100 | - |
| 330 | Factor XII deficiency | 4 | 0 | 100 | - |
| 425 | Familial hypoalphalipoproteinemia | 4 | 0 | 100 | - |
| 510 | Lesch-Nyhan disease | 12 | 0 | 100 | Severe form predominant in M |
| 534 | Lowe syndrome | 5 | 0 | 100 | Almost exclusively in M |
| 649 | Norrie disease | 5 | 0 | 100 | Almost exclusively in M |
| 580 | Mucopolysaccharidosis type 2 | 27 | 0 | 100 | Almost exclusively in M |
| 245 | Nager syndrome | 4 | 0 | 100 | - |
Note: The number of records is indicated with the only aim of allowing a better assessment of the statistical data presented and cannot be used as an indication of the disease or exemption code frequency. Where the percentages in males and females sum to less than 100, the difference represents records with missing sex data.