Kidney and urologic diseases, Bone, cartilage, and articular diseases, Endocrine diseases

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Update : 2020.11.27

Name of diseases Patient No. *Terms Approval Form HPS References
Kidney and urologic diseases
1. IgA nephropathy
IgA nephropathy 1 Unnecessary HPS1180 HPS1181 HPS1182 HPS1183 HPS1184 HPS1185
2 Unnecessary HPS1520 HPS1521 HPS1522 HPS1523 HPS1524 HPS1525
3 Unnecessary HPS1573 HPS1574 HPS1575 HPS1576 HPS1577 HPS1578
2. Polycystic Kidney disease
Polycystic Kidney disease, unknown genetic etiology 1 Unnecessary HPS1264 HPS1265 HPS1266 HPS1267 HPS1268 HPS1269
Polycystic Kidney disease (ADPKD) 1 Unnecessary HPS2192 HPS2193 HPS2194 HPS2195 HPS2196 HPS2197
2 Unnecessary HPS2636 HPS2637 HPS2638 HPS2639 HPS2640 HPS2641
3 HPS3948
4 HPS3949
5 HPS3950
6 HPS3951
7 HPS3952
8 HPS3953
3. Atypical hemolytic uremic syndrome (aHUS)
Atypical hemolytic uremic syndrome (aHUS), mutation in factor B 1 Unnecessary HPS2036 HPS2037 HPS2038 HPS2039 HPS2040 HPS2041
219. Galloway-Mowat syndrome
Galloway-Mowat syndrome 1 Unnecessary HPS1743
5. Rapidly progressive glomerulonephritis
Rapidly progressive glomerulonephritis, MPO-ANCA(+) 1 Unnecessary HPS2666 HPS2667 HPS2668 HPS2669 HPS2670 HPS2671
6. Anti-glomerular basement membrane antibody (GBM)
Anti-glomerular basement membrane antibody (GBM)-mediated glomerulonephritis 1 Unnecessary HPS2750 HPS2751 HPS2752 HPS2753 HPS2754 HPS2755
7. Primary nephrotic syndrome
Primary nephrotic syndrome, minimal change nephrotic syndrome 1 Unnecessary HPS2738 HPS2739 HPS2740 HPS2741 HPS2742 HPS2743
Bone, cartilage, and articular diseases
1. Ossification of the yellow ligament (OYL)
Ossification of the yellow ligament (OYL) 1 Unnecessary HPS1948 HPS1949 HPS1950 HPS1951 HPS1952 HPS1953
2. Ossification of posterior longitudinal ligament
Ossification of posterior longitudinal ligament 1 Unnecessary HPS2702 HPS2703 HPS2704 HPS2705 HPS2706 HPS2707
3. Spinal stenosis
Spinal stenosis 1 Unnecessary HPS1978 HPS1979 HPS1980 HPS1981
4. Idiopathic osteonecrosis of femoral Head
Idiopathic osteonecrosis of femoral Head, Type C-1 1 Unnecessary HPS2756 HPS2757 HPS2758 HPS2759 HPS2760 HPS2761
5. Hypophosphatasia,
Hypophosphatasia, perinatal type 1 HPS0332
2 HPS0333
Hypophosphatasia, mutation in TNSALP 1 Unnecessary HPS2030 HPS2031 HPS2032 HPS2033 HPS2034 HPS2035
6. Vitamin D resistant rickets / Osteomalacia
Vitamin D resistant rickets / Osteomalacia, Vitamin D resistant osteomalacia 1 Unnecessary HPS2840 HPS2841 HPS2842 HPS2843 HPS2844 HPS2845
Primary hypophosphatemic rickets 1 HPS3450
7. Ankylosing spondylitis
Ankylosing spondylitis、HLA-B27(+) 1 Unnecessary HPS2696 HPS2697 HPS2698 HPS2699 HPS2700 HPS2701
8. Fibrodysplasia ossificans progressiva (FOP)
Fibrodysplasia ossificans progressiva (FOP) 1 HPS0376 HPS0377 PMID: 24321451
2 HPS0378 PMID: 24321451
9. Osteogenesis Imperfecta
Osteogenesis Imperfecta 1 HPS0525 HPS0527 HPS0528
2 HPS0942 HPS0943 HPS0944
3 HPS0945 HPS0946 HPS0947 HPS0948 HPS0949
4 HPS0950 HPS0951 HPS0952
5 HPS3451
6 HPS3452
7 HPS3453
8 HPS3482 HPS3483 HPS3484
9 HPS3485 HPS3486
10 HPS3487 HPS3488 HPS3489 HPS3490
11 HPS3491
Osteogenesis Imperfecta, unknown genetic etiology 1 Unnecessary HPS2768 HPS2769 HPS2770 HPS2771 HPS2772 HPS2773
10. Thanatophoric dysplasi
Thanatophoric dysplasia, mutation in FGFR3(Arg248Cys) 1 Unnecessary HPS3236 HPS3237 HPS3238 HPS3239 HPS3240 HPS3241
11. Achondroplasia
Achondroplasia 1 HPS0388 HPS0389
2 HPS0522 HPS0523 HPS0524
3 HPS0939 HPS0940 HPS0941
4 HPS0953 HPS0954
5 HPS3446
6 HPS3447
7 HPS3448
8 HPS3458 HPS3459 HPS3460
9 HPS3461 HPS3462 HPS3463
10 HPS3464 HPS3465
11 HPS3466 HPS3467 HPS3468
12 HPS3469 HPS3470
13 HPS3471 HPS3472 HPS3473
14 HPS3474 HPS3475 HPS3476
15 HPS3477 HPS3478 HPS3479
Achondroplasia, unknown genetic etiology 1 Unnecessary HPS2965 HPS2966 HPS2967 HPS2968 HPS2969 HPS2970
Endocrine diseases
1. Disorders of pituitary ADH secretion
Disorders of pituitary ADH secretion, central diabetes insipidus (CDI) 1 Unnecessary HPS1282 HPS1283 HPS1284 HPS1285 HPS1286 HPS1287
2 Unnecessary HPS3302 HPS3303 HPS3304 HPS3305 HPS3306 HPS3307
Disorders of pituitary ADH secretion, suspect of central diabetes insipidus 1 Unnecessary HPS2132 HPS2133 HPS2134 HPS2135 HPS2136 HPS2137
Familial central diabetes insipidus 1 HPS0407 HPS1010
2 HPS1011 HPS1904
Familial central diabetes insipidus 1 HPS1763 HPS1764 HPS1765
2. Pituitary hypersecretion of TSH
Pituitary hypersecretion of TSH, TSH-secreting pituitary adenoma 1 Unnecessary HPS1960 HPS1961 HPS1962 HPS1963 HPS1964 HPS1965
3. Hyperprolactinemia
Hyperprolactinemia, pituitary adenoma (prolactinoma) 1 Unnecessary HPS1954 HPS1955 HPS1956 HPS1957 HPS1958 HPS1959
4. Pituitary hypersecretion of growth hormon
Pituitary hypersecretion of growth hormone, pituitary adenoma 1 Unnecessary HPS1562 HPS1563 HPS1564 HPS1565 HPS1566 HPS1567
2 Unnecessary HPS2630 HPS2631 HPS2632 HPS2633 HPS2634 HPS2635
5. Hypopituitarism
Hypopituitarism 1 HPS1073 HPS1901 HPS1902
2 HPS1766 HPS1767 HPS1768
3 HPS1769 HPS1770 HPS1771
Anterior pituitary hypofunction, empty sella syndrome 1 Unnecessary HPS2232 HPS2233 HPS2234 HPS2235 HPS2236 HPS2237
Anterior pituitary hypofunction, pituitary adenoma 1 Unnecessary HPS2930 HPS2931 HPS2932 HPS2933 HPS2934 HPS2935
Anterior pituitary hypofunction, complicated with Cushing’s syndrome 1 Unnecessary HPS3230 HPS3231 HPS3232 HPS3233 HPS3234 HPS3235
Anterior pituitary hypofunction, transection of the pituitary stalk 1 Unnecessary HPS3296 HPS3297 HPS3298 HPS3299 HPS3300 HPS3301
Anterior pituitary hypofunction, transection of the pituitary stalk 1 Unnecessary HPS1300 HPS1301 HPS1302 HPS1303 HPS1304 HPS1305
6. Resistance to Thyroid Hormone
Resistance to Thyroid Hormone, mutation in TR beta gene 1 Unnecessary HPS1673 HPS1674 HPS1675 HPS1676 HPS1677 HPS1678
2 Unnecessary HPS2448 HPS2449 HPS2450 HPS2451 HPS2452 HPS2453
7. Congenital Adrenal enzyme deficiency
Congenital Adrenal enzyme deficiency, 21-Hydroxylase deficiency / simple virilizing form 1 Unnecessary HPS1448 HPS1449 HPS1450 HPS1451 HPS1452 HPS1453
Congenital Adrenal enzyme deficiency, 21-hydroxylase deciciency / salt-wasting form 1 Unnecessary HPS2162 HPS2163 HPS2164 HPS2165 HPS2166 HPS2167
2 Unnecessary HPS3308 HPS3309 HPS3310 HPS3311 HPS3312 HPS3313
8. Addison’s disease
Addison’s disease, autoimmune adrenalitis 1 Unnecessary HPS2726 HPS2727 HPS2728 HPS2729 HPS2730 HPS2731
9. Hypoparathyroidism
Hypoparathyroidism 1 Unnecessary HPS3167 HPS3168 HPS3169 HPS3120 HPS3121 HPS3122

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