All individuals with variants in gene ABCD1

78 entries on 1 page. Showing entries 1 - 78.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 8 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 21 1 Yu Sun
00052135 - PubMed: Matsumoto 2005, Journal: Matsumoto 2005 - M - Japan - - - - - ALD born 40w gestation, birth weight 3198g; 1y-normal developmental milestones; walk-12m; 3y-speak two-word sentences; developed convulsions several times since age 2y; 39m-admitted to hospital, normal height/weight/physical examinations, ECG spikes and spike-and-waves left occicipital region; MRI brain FLAIR-method high signal intensity areas both occicipital regions, small high-signal-intensity areas scattered in anterior/temporal parts cerebrum; motor and sensory nerve conduction velocity normal; ... 1 1 Johan den Dunnen
00052346 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, heterozygous carrier mother (5 affected sons) F no Austria - - - - - ? slowly developing spastic paraparesis, increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052347 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - >32y - - - ? adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052348 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - >29y - - - ALD adolescent adrenoleukodystrophy (AALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052349 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - 13y - - - ALD childhood cerebral adrenoleukodystrophy (CALD), died after clinical course of 4y; increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052350 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - 09y - - - ALD childhood cerebral adrenoleukodystrophy (CALD), died after clinical course of 1.5y; increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052351 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - >20y - - - ? Addison disease (ADD), increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052352 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 1 affected boy M no Viet Nam - - - - - ALD boy died of childhood cerebral ALD (CCALD) 1 1 Johan den Dunnen
00052353 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 1 affected boy, 2 unaffected heterozygous carriers M no Netherlands - - - - - ALD adrenomyeloneuropathy (AMN) 1 1 Johan den Dunnen
00052354 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 2 affected boys, 1 unaffected heterozygous carrier M no Netherlands - - - - - ALD both patients have adrenomyeloneuropathy (AMN) 1 2 Johan den Dunnen
00052355 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 2 affected boys M no Germany - - - - - ALD childhood cerebral ALD (CCALD) and young symptomatic 1 2 Johan den Dunnen
00052356 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 2 affected boys M no Netherlands - - - - - ALD both patients have adrenomyeloneuropathy (AMN) 1 2 Johan den Dunnen
00052357 - PubMed: Kemp 1994, Journal: Kemp 1994 - - no - - - - - - - - 1 5 Johan den Dunnen
00052358 - PubMed: Kemp 1994, Journal: Kemp 1994 - - no - - - - - - - - 1 25 Johan den Dunnen
00052371 - PubMed: Tarpey 2009 - ? - - European - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 35 Johan den Dunnen
00052378 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052379 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052380 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052381 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052382 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052383 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052384 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052385 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052386 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052387 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052388 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052389 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052390 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052391 - PubMed: Mosser 1994, Journal: Mosser 1994 heterozygous carrier mother, no patient material available F - Netherlands - - - - - ALD symptomatic carrier; increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052392 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052393 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052394 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052395 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052396 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052397 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052398 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052399 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052400 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052401 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052402 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052403 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052404 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052405 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - - - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052408 - PubMed: Jiang 2015, Journal: Jiang 2015 2-generation family, 2 male sibs (Pat18/19), unaffected heterozygous mother (VLCFA 0.89) M - China - >04y06m - - - ALD childhood cerebral adrenoleukodystrophy (CCALD), hyperpigmentation; VLCFA 5.6 (<0.89), ACTH 221 (1-10); MRI-dilation cerebral ventricles 1 2 Johan den Dunnen
00052409 - PubMed: Jiang 2015, Journal: Jiang 2015 2-generation family, 2nd sib M - China - >02y03m - - - ALD Addison only (AO), hematopoietic stem cell transplantation, hyperpigmentation; VLCFA 5.84 (<0.89), ACTH 110 (1-10); MRI-no white matter lesions 1 1 Johan den Dunnen
00087103 - - - M - India - - - - - - - 1 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00087104 - - heterozygous carrier mother, no patient material available F - India - - - - - - - 1 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00087208 - - - M - India indian - - - - - - 1 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00180937 - - - M - - - - - - - ? HP:0001257 (Spasticity) 1 1 IMGAG
00183137 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00271378 - - - F - - - - - - - ? Spastic paraplegia (HP:0001258) 1 1 IMGAG
00294962 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295412 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295496 - - - F - - - - - - - ? Visual impairment (HP:0000505); Paraplegia/paraparesis (HP:0010551) 1 1 Andreas Laner
00358878 8. ABCD1 - - - - - - - - - - ? - 1 1 Muhammad Umair
00374174 S-2407 PubMed: Ganapathy 2019 - - - India - - - - - ? Hyperpigmentation, memory loss and elevated VLCFA. MRI showed leukodystrophy 1 1 Johan den Dunnen
00374175 S-2545 PubMed: Ganapathy 2019 - - - India - - - - - ? Addison disease, high VLCFA and features suggestive of X-linked adrenoleukodystrophy 1 1 Johan den Dunnen
00374176 S-5919 PubMed: Ganapathy 2019 - - - India - - - - - ? Minimal hyperpigmentation, short stature and impending adrenal insufficiency 1 1 Johan den Dunnen
00374177 S-6559 PubMed: Ganapathy 2019 - - - India - - - - - ? Encephalopathy, delayed motor development, dysarthria, global developmental delay, failure to thrive, spasticity, cognitive deficit, ID, optic atrophy and hearing loss. Suspected of adrenoleukodystrophy 1 1 Johan den Dunnen
00374178 S-3648 PubMed: Ganapathy 2019 - - - India - - - - - ? Progressive darkening of skin, deterioration of scholastic performance, leukodystrophy, worsening of handwriting and increased levels of VLCFA indicative of leukodystrophy 1 1 Johan den Dunnen
00380766 ? PubMed: Nair 2018 - ? - Lebanon - - - - - ALD Neuroregression; hearing problems; adrenal insufficiency (Neurology) 1 1 LOVD
00417427 - - - - - - - - - - - ALD - 1 1 Wenjuan Qiu
00418517 Fam14 PubMed: He 2022 - - - China - - - - - ? - 1 1 Johan den Dunnen
00419090 - Feixia zheng 2022, submitted - M no China - - - - HSCT ALD Increased circulating very long-chain fatty acid concentration （HP:0033643）; Demyelination in central white matter（HP:0007305） 1 1 Feixia Zheng
00419457 9039 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00444047 PID_15 PubMed: Sarker 2023 no family history M - Bangladesh - - - - - DMD calf hypertrophy; Gower sign positive; elevated CPK; no feeding difficulties; no toe walking; poor walking/running ability; no difficulty climbing stairs; no waddling feet/gait; two seizures; muscle weakness; no skinny legs/arms; delayed developmental milestones; no intellectual disability; no delayed speech; not hyperactive 1 1 Johan den Dunnen
00444489 Pat97 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP 1 1 Johan den Dunnen
00444490 Pat98 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia visual impairment; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP 1 1 Johan den Dunnen
00444491 Pat99 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia regression of motor ability; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP 1 1 Johan den Dunnen
00444492 Pat100 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia cognitive and behavioral changes; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP 1 1 Johan den Dunnen
00444493 Pat101 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; cognitive changes; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP 1 1 Johan den Dunnen
00444494 Pat102 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia cognitive and behavioral changes; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP 1 1 Johan den Dunnen
00444495 Pat103 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia recurrent convulsion; intellectual disability; regression of motor ability; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP 1 1 Johan den Dunnen
00444496 Pat104 PubMed: Duan 2023 patient - - China - - - - - adrenal hyperplasia hyperpigmentation; regression of motor ability; visual impairment; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP 1 1 Johan den Dunnen
00449550 Pat10 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., increased nuchal translucency; developmental delay and/or intellectual disability; delayed speech, delayed language; autism; tics; no hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; no genitourinary anomalies; no gastrointestinal anomalies; deep-set eyes, up-slanting palpebral fissures, large ears, short philtrum; 1 1 Johan den Dunnen
00468579 - PubMed: Retterer 2016 analysis proband (1/3040) - - United States - - - - - ? PDD-NOS, ataxia, microcephaly, ventricular septal defect. 1 1 Johan den Dunnen
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