Disease #01629 (adrenal hyperplasia (adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency), OMIM:201910)

Official abbreviation adrenal hyperplasia
Name adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
OMIM ID 201910
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 44
Phenotype entries for this disease 29
Associated with 1 gene CYP21A2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-07-09 16:56:01 +02:00 (CEST)


Individuals

44 entries on 1 page. Showing entries 1 - 44.
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00080848 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - adrenal hyperplasia Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (OMIM:201910) CYP21A2 CYP21A2 1 1 Daniel Trujillano
00164833 - - - F - Germany - - - - - adrenal hyperplasia salt-wasting (HP:0000127) CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164836 - PubMed: Wedell 1993, PubMed: Haider 2013 [To be checked] 2nd mutation p.Val282Leu F - Germany - - - - - adrenal hyperplasia ACTH test conspicious; salt-wasting (HP:0000127) - according to Wedell et al CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164838 - PubMed: Chin 1998, PubMed: Bristow 1993 [To be checked] - F - Germany - - - - - adrenal hyperplasia non classical CYP21A2 CYP21A2 4 1 Stephanie Kleinle
00164842 - PubMed: New 2013 PubMed: Speiser 1988, PubMed: Tusie-Luna 1990 [To be checked] sister with NC-CAH, 2nd path variant p.Gln319* M - Germany - - - - - adrenal hyperplasia non classical CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164844 - PubMed: Chin 1998, PubMed: Bristow 1993 [To be checked] 2nd path variant p.Val282Leu F - Germany - - - - - adrenal hyperplasia non classical CYP21A2 CYP21A2 4 1 Stephanie Kleinle
00164846 - - no 2nd mutation F - Germany - - - - - adrenal hyperplasia ACTH test conspicious; non classical CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164848 - PubMed: Tusie-Luna 1990, PubMed: New 2013, PubMed: Amor 1988 [To be checked] no 2nd mutation F - Germany - - - - - adrenal hyperplasia ACTH test conspicious; simple-virilizing CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164849 - - - F - Germany - - - - - adrenal hyperplasia non classical CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164851 - - - F - Germany - - - - - adrenal hyperplasia non classical CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164852 - - 2nd mutation p.Val282Leu F - Germany - - - - - adrenal hyperplasia ACTH test conspicious; non classical CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164853 - PubMed: Tusie-Luna 1990, PubMed: New 2013, PubMed: Amor 1988 [To be checked] - F - Germany - - - - - adrenal hyperplasia classical simple-virilizing CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164854 - - 2nd allele p.Val282Leu F - Germany - - - - - adrenal hyperplasia non classical; salt-wasting (HP:0000127) CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164856 - - 2nd allele P.Ile173Asn F - Germany - - - - - adrenal hyperplasia classical simple-virilizing; salt-wasting (HP:0000127) CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164858 - - - F - Germany - - - - - adrenal hyperplasia salt-wasting (HP:0000127) CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164859 - - - F - Turkey - - - - - adrenal hyperplasia classical simple-virilizing; salt-wasting (HP:0000127) CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164862 - PubMed: Tusie-Luna 1990, PubMed: New 2013, PubMed: Amor 1988 [To be checked] 2nd pathogenic variant p.Val282Leu F - Germany - - - - - adrenal hyperplasia non classical; hirsutism (HP:0002230); ACTH test conspicious CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164865 - PubMed: Chin 1998, PubMed: Bristow 1993 [To be checked] - F - - Asian - - - - adrenal hyperplasia ACTH test conspicious; non classical CYP21A2 CYP21A2 4 1 Stephanie Kleinle
00164874 - - 2nd pathogenic variant p.Val282Leu F - Germany - - - - - adrenal hyperplasia non classical CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164875 - PubMed: White 1998 2nd allele complete deletion M - Germany - - - - - adrenal hyperplasia salt-wasting (HP:0000127) CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164876 - PubMed: Helmberg 1992, PubMed: Haider 2013 [To be checked] - F - Turkey - - - - - adrenal hyperplasia non classical CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164878 - - - M - - - - - - - adrenal hyperplasia salt-wasting (HP:0000127) CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164879 - PubMed: Baumgartner-Parzer 2nd pathogenic variant p.Arg427His M - Albania - - - - - adrenal hyperplasia classical simple-virilizing CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164880 - PubMed: Baumgartner-Parzer 2nd pathogenic variant p.Arg427His M - Albania - - - - - adrenal hyperplasia classical simple-virilizing CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164881 - PubMed: White 1998 2nd c.[844G>A;292+5G>A] - - Portugal - - - - - adrenal hyperplasia salt-wasting (HP:0000127) CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00164883 - PubMed: Bleicken 2009 no 2nd mutation detected F - Germany - - - - - adrenal hyperplasia ACTH test conspicious; hirsutism (HP:0002230) CYP21A2 CYP21A2 1 1 Stephanie Kleinle
00164884 - - 2nd pathogenic variant p.Arg357Trp M - - - - - - - adrenal hyperplasia salt-wasting (HP:0000127) CYP21A2 CYP21A2 2 1 Stephanie Kleinle
00306206 104 - - F - China - - - - - adrenal hyperplasia adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency CYP21A2 - - 1 Sha Hong
00306716 - - - - - - - - - - - adrenal hyperplasia - ABCD1, AIRE, ARMC5, CYP11B1, CYP11B2, CYP17A1, CYP21A2, SF1 CYP11B1 1 1 Guorui Hu
00306718 - - - - - - - - - - - adrenal hyperplasia - ABCD1, CYP11B1, CYP11B2, CYP17A1, CYP20A1, SF1 CYP11B1 2 1 Guorui Hu
00306720 - - - M no China - - - - - adrenal hyperplasia - ABCD1, AIRE, CYP11B1, CYP17A1, CYP20A1 CYP11B1 2 1 Guorui Hu
00306721 - - - F no China - - - - - adrenal hyperplasia - CYP11B1, CYP11B2, CYP17A1, CYP1A1, CYP21A2 CYP11B1 2 1 Guorui Hu
00319529 - PubMed: Lao et al., 2019 26 patients with congenital adrenal hyperplasia showed evidence of the CAH-X CH-1 genotype, a chimeric TNXA/TNXB gene featuring the described variant. Up to 24 patients had a complete or partial clinical evaluation for EDS. - - - - - - - - adrenal hyperplasia, EDS - TNXB TNXB 1 1 Raymond Dalgleish
00319531 Family 1: II-2 PubMed: Morissette et al., 2015 The patient and his father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed some characteristics of hypermobile EDS.The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia - TNXB TNXB 1 1 Raymond Dalgleish
00319532 Family 2: II-1 PubMed: Morissette et al., 2015 The patient and her mother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They had several characteristics of hypermobile EDS. The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia - TNXB TNXB 1 1 Raymond Dalgleish
00319533 Family 3: II-1 PubMed: Morissette et al., 2015 The patient and her mother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed some characteristics of hypermobile EDS.The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia - TNXB TNXB 1 1 Raymond Dalgleish
00319534 Family 4: II-2 PubMed: Morissette et al., 2015 The patient and his father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed significant characteristics of hypermobile EDS.The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia - TNXB TNXB 1 1 Raymond Dalgleish
00319535 Family 5: II-3 PubMed: Morissette et al., 2015 The patient and her father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. Both patients showed characteristics of hypermobile EDS, and the father showed no CAH phenotype. The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia - TNXB TNXB 1 1 Raymond Dalgleish
00319536 Family 6: II-1 PubMed: Morissette et al., 2015 The patient, her mother, and brother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. The mother was a carrier for CAH, but did not display the phenotype. The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia - TNXB TNXB 1 1 Raymond Dalgleish
00319537 Family 7:II-3 PubMed: Morissette et al., 2015 The patient, her mother, and sister carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. The mother and sister were carriers for CAH, but did not display the phenotype.The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia - TNXB TNXB 1 1 Raymond Dalgleish
00319538 P1 PubMed: Chen et al., 2016 The patient is homozygous for a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia, EDS - TNXB TNXB 4 1 Raymond Dalgleish
00319539 P2 PubMed: Chen et al., 2016 The patient inherited a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia, EDS - TNXB TNXB 4 1 Raymond Dalgleish
00319540 P3 PubMed: Chen et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia, EDS - TNXB TNXB 1 1 Raymond Dalgleish
00319542 - PubMed: Lao et al., 2019 18 patients with congenital adrenal hyperplasia carried the CAH-X CH-2 genotype, a chimeric TNXA/TNXB gene carrying the described variants. Up to 16 patients had a complete or partial clinical evaluation for EDS. - - - - - - - - adrenal hyperplasia, EDS - TNXB TNXB 1 1 Raymond Dalgleish
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