Disease #07052 (adrenal hyperplasia (adrenal hyperplasia, congenital, not due to 21-hydroxylase deficiency))

Official abbreviation adrenal hyperplasia
Name adrenal hyperplasia, congenital, not due to 21-hydroxylase deficiency
OMIM ID -
Inheritance -
Individuals reported having this disease 111
Phenotype entries for this disease 111
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2023-12-24 11:17:16 +01:00 (CET)
Date last edited N/A


Individuals

111 entries on 2 pages. Showing entries 1 - 100.
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00444387 Pat1 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; diarrhea; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP STAR STAR 2 2 Johan den Dunnen
00444388 Pat2 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; diarrhea; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 1 2 Johan den Dunnen
00444389 Pat3 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; prolonged jaundice; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP STAR STAR 2 2 Johan den Dunnen
00444390 Pat4 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; vomiting; prolonged jaundice; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 3 Johan den Dunnen
00444391 Pat5 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia dehydration; vomiting; diarrhea; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444392 Pat6 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP STAR STAR 2 2 Johan den Dunnen
00444393 Pat7 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; convulsion; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444394 Pat8 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444395 Pat9 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444396 Pat10 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia dehydration; vomiting; diarrhea; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444397 Pat11 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444398 Pat12 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; prolonged jaundice; no hyponatremia; no hyperkalemia; hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444399 Pat13 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444400 Pat14 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444401 Pat15 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 1 1 Johan den Dunnen
00444402 Pat16 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444403 Pat17 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; ambiguous external genitalia; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444404 Pat18 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; diarrhea; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 1 1 Johan den Dunnen
00444405 Pat19 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444406 Pat20 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444407 Pat21 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444408 Pat22 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444409 Pat23 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; prolonged jaundice; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444410 Pat24 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting ; weight loss; small penis; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444411 Pat25 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; vomiting; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444412 Pat26 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; vomiting; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444413 Pat27 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; weight loss; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444414 Pat28 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; weight loss; fatigue; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP STAR STAR 1 1 Johan den Dunnen
00444415 Pat29 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting ; weight loss; convulsion; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 1 1 Johan den Dunnen
00444416 Pat30a PubMed: Duan 2023 family, 2 affected - - China - - - - - adrenal hyperplasia hyperpigmentation; prolonged jaundice; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 2 Johan den Dunnen
00444417 Pat30b PubMed: Duan 2023 relative - - China - - - - - adrenal hyperplasia hyperpigmentation; no hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444418 Pat31a PubMed: Duan 2023 family, 2 affected - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; convulsions; fever; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 2 Johan den Dunnen
00444419 Pat31b PubMed: Duan 2023 relative - - China - - - - - adrenal hyperplasia hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP STAR STAR 2 1 Johan den Dunnen
00444420 Pat32 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; large penis; advanced bone age; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444421 Pat33 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia clitoral hypertrophy; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444422 Pat34 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia clitoral hypertrophy; vomiting; diarrhea; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444423 Pat35 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia clitoral hypertrophy; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444424 Pat36 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hypertension; central precocious puberty; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444425 Pat37 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hypertension; large penis; advanced bone age; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444426 Pat38 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia clitoral hypertrophy; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444427 Pat39 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hypertension; hyperpigmentation; clitoral hypertrophy ; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444428 Pat40 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia clitoral hypertrophy; advanced bone age; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444429 Pat41 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hypertension; large penis; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP CYP11B1 CYP11B1 1 1 Johan den Dunnen
00444430 Pat42 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia clitoral hypertrophy; hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP11B1 CYP11B1 2 1 Johan den Dunnen
00444431 Pat43 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia clitoral hypertrophy; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP11B1 CYP11B1 1 1 Johan den Dunnen
00444432 Pat44 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia small penis; skeletal malformation; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP POR POR 2 1 Johan den Dunnen
00444433 Pat45 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia clitoral hypertrophy; skeletal malformation; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP POR POR 2 1 Johan den Dunnen
00444434 Pat46 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia skeletal malformation; ambiguous external genitalia; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP POR POR 2 1 Johan den Dunnen
00444435 Pat47 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia newborn screening for elevated 17OHP; no hyponatremia; hyperkalemia; no hypoglycemia; elevated 17OHP POR POR 2 1 Johan den Dunnen
00444436 Pat48 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hypospadias; small penis ; hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; elevated 17OHP HSD3B2 HSD3B2 1 1 Johan den Dunnen
00444437 Pat49 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia vomiting; diarrhea; hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; elevated 17OHP HSD3B2 HSD3B2 2 1 Johan den Dunnen
00444438 Pat50a PubMed: Duan 2023 family, 2 affected - - China - - - - - adrenal hyperplasia clitoral hypertrophy; hyponatremia; hyperkalemia; no hypoglycemia; elevated 17OHP HSD3B2 HSD3B2 1 2 Johan den Dunnen
00444439 Pat50b PubMed: Duan 2023 relative - - China - - - - - adrenal hyperplasia hypospadias; hyponatremia; hyperkalemia; no hypoglycemia; HSD3B2 HSD3B2 1 1 Johan den Dunnen
00444440 Pat51 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia a small penis; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP17A1 CYP17A1 2 1 Johan den Dunnen
00444441 Pat52 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia ambiguous external genitalia; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP CYP17A1 CYP17A1 2 1 Johan den Dunnen
00444442 Pat53 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia ambiguous external genitalia; hypospadias; no hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP CYP17A1 CYP17A1 2 1 Johan den Dunnen
00444443 Pat54 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia ambiguous external genitalia; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP CYP17A1 CYP17A1 1 1 Johan den Dunnen
00444444 Pat55 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia without public hair; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP CYP17A1 CYP17A1 2 1 Johan den Dunnen
00444445 Pat56 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia ambiguous external genitalia; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP CYP11A1 CYP11A1 2 1 Johan den Dunnen
00444446 Pat57 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia vomiting; hyperpigmentation; dehydration; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444447 Pat58 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; hypoglycemia; no hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444448 Pat59 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; weight loss; no hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444449 Pat60 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444450 Pat61 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; weight loss; vomiting; diarrhea; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444451 Pat62 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; infection; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444452 Pat63 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; no hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444453 Pat64 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; prolonged jaundice; convulsions; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444454 Pat65 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; abdominal pain; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444455 Pat66 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; weight loss; recurrent infection; convulsions; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444456 Pat67 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia dehydration; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444457 Pat68 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444458 Pat69 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting convulsion; weight loss; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444459 Pat70 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444460 Pat71 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444461 Pat72 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; fatigue; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444462 Pat73 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; convulsion; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444463 Pat74 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; diarrhea; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444464 Pat75 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; fatigue; recurrent infection; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444465 Pat76 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia dehydration; vomiting; hyperpigmentation; weight loss; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444466 Pat77 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; fever; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444467 Pat78 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444468 Pat79 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444469 Pat80 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; convulsion; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444470 Pat81 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444471 Pat82 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444472 Pat83 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444473 Pat84 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; prolonged jaundice; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444474 Pat85 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia vomiting; hyperpigmentation; fatigue; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444475 Pat86 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration vomiting; abdominal pain; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444476 Pat87 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; vomiting; fatigue; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444477 Pat88 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; weight loss intellectual disability; hypermyotonia; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444478 Pat89 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; fatigue; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444479 Pat90 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; vomiting; dehydration; infections; muscular dystrophy; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444480 Pat91a PubMed: Duan 2023 family, 3 affected - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; vomiting; prolonged jaundice; convulsions; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 3 Johan den Dunnen
00444481 Pat91b PubMed: Duan 2023 relative - - China - - - - - adrenal hyperplasia hyperpigmentation; vomiting; convulsion; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444482 Pat91c PubMed: Duan 2023 relative - - China - - - - - adrenal hyperplasia hyperpigmentation; fatigue; recurrent infections; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444483 Pat92a PubMed: Duan 2023 family, 2 affected - - China - - - - - adrenal hyperplasia vomiting; hyperpigmentation; diarrhea; no hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 2 Johan den Dunnen
00444484 Pat92b PubMed: Duan 2023 relative - - China - - - - - adrenal hyperplasia vomiting; hyperpigmentation; dehydration; weight loss; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP NR0B1 NR0B1 1 1 Johan den Dunnen
00444485 Pat93 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia dehydration; intrauterine growth retardation; asphyxia neonatorum; convulsions; infections; MODS; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP SAMD9 SAMD9 1 1 Johan den Dunnen
00444486 Pat94 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; dehydration; recurrent infections; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP MRAP MRAP 1 1 Johan den Dunnen
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