Disease #00018 (HSD10MD (HSD10 Mi disease), OMIM:300438)

Official abbreviation HSD10MD
Name HSD10 Mi disease
OMIM ID 300438
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 24
Phenotype entries for this disease 23
Associated with 1 gene HSD17B10
Associated tissues -
Disease features -
Remarks -
Date created 2012-07-23 10:50:29 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00001683 - PubMed: Ensenauer 2002, Patient 2; PubMed: Ofman 2003, Patient 3 - M ? - - - - - - HSD10MD ascertainment clinical presentation; developmental regression, dystonia, blindness, epilepsy HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001684 - PubMed: Ensenauer 2002, Patient 1; PubMed: Ofman 2003, Patient 2 - F ? - - - - - - HSD10MD ascertainment clinical presentation; psychomotor retardation HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001685 - PubMed: Rauschenberger 2010, Case 2 - M ? - - - - - - HSD10MD - HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001686 - PubMed: Rauschenberger 2010, Case 1 - M ? Germany - 00y06m - - - HSD10MD ascertainment clinical presentation; severe hypotonia, no development, cardiomyopathy; phenotype onset neonatal; biochemical phenotype typical for disease HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001687 - PubMed: Poll-The 2004 - M ? - - - - - - HSD10MD ascertainment clinical presentation; developemtnal delay, plagiocephaly, fontal bosssing, short nose, dysplastic ears. 5th finger and toe clinodactyly, moderate syndactyly of 2nd, 3rd 4th fingers HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001688 - Submitted by J. Zschocke - M ? - - - - - - HSD10MD - HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001689 - Submitted by J. Zschocke - M ? - - - - - - HSD10MD - HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001690 - PubMed: Olpin 2002 - M ? - - - - - - HSD10MD - HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001691 - PubMed: García-Villoria 2009, Patient 6 - M ? - - - - - - HSD10MD ascertainment clinical presentation; developmental regression, ataxia, myoclonus, nystagmus, optic atrophy, retinopathy; biochemical phenotype typical for disease HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001692 - PubMed: Perez-Cerda 2005, Patient 1 - F ? - - - - - - HSD10MD ascertainment clinical presentation; psychomotor retardation, speech delay, hearing loss; phenotype onset first months of life; biochemical phenotype typical for disease HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001693 - PubMed: Perez-Cerda 2005, Patient 2 - M ? - - 00y02m - - - HSD10MD ascertainment clinical presentation; neonatal presentation HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001694 - PubMed: Perez-Cerda 2005, Patient 3 - M ? - - 01y06m - - - HSD10MD ascertainment clinical presentation; neonatal presentation HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001695 - PubMed: García-Villoria 2009, Patient 5 - M ? - - 00y07m - - - HSD10MD ascertainment clinical presentation HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001696 - PubMed: García-Villoria 2009, Patient 3 - M ? - - 00y04m - - - HSD10MD ascertainment clinical presentation HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001697 - PubMed: García-Villoria 2009, Patient 4 - M ? - - - - - - HSD10MD ascertainment clinical presentation; severe neurological impairment at 20 months HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001700 - PubMed: Zschocke 2000, PubMed: Ofman 2003, Patient 1 - M ? - - - - - - HSD10MD ascertainment clinical presentation HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001701 - PubMed: Sass 2004, PubMed: Ofman 2003, Patient 4 - M ? - - - - - - HSD10MD ascertainment clinical presentation HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001702 - PubMed: Sutton 2003 - M ? - - - - - - HSD10MD - HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001703 - PubMed: Cazorla 2007 - M ? - - - - - - HSD10MD - HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00001704 - PubMed: Seaver LH 2011 mixed ancestry (Portual, Hawaii, Japan, China) M ? - - - - - - HSD10MD ascertainment clinical presentation; developmental regression, Hyperkinetic involuntary movement disorder, EEG showed diffuse background slowing and multifocal spike or polyspike activity HSD17B10 HSD17B10 1 1 Division of Human Genetics, Innsbruck
00235339 Fam1PatII1 PubMed: Waters 2019 2-generation pedigree (1 affected male), unaffected heterozygous mother M - Canada French-Canadian >11y - yes - HSD10MD, SPG4 elevation of 2-methyl-3-hydroxybutyrate (94; normal <18 mmol/mol creatinine) and tiglylglycine (74; normal <5 mmol/mol creatinine), progressive spastic quadriplegia (HP:0002478), motor delay (HP:0001270), dysarthria (HP:0001260) - HSD17B10, SPAST 2 1 Sebastien Levesque
00303087 Fam2Pat PubMed: Waters 2019 3-generation family, 2 affected (2M), unaffected carrier mother/grandmother M - Canada - - - - - HSD10MD 19m-transient episode of dystonia/ataxia, MRI brain normal, no cardiac abnormalities, no ophthalmological abnormalities; over time dystonic episodes gradually diminished in frequency and duration HSD17B10 HSD17B10 1 2 Johan den Dunnen
00303089 Fam4Pat 3-generation family, 1 affected males, heterozygous unaffected mother/grandmother - M - Canada - - - - - HSD10MD suspected possible episodes of absence epilepsy, observed elevations liver transaminases, history of neonatal death sister and mother's new pregnancy; epilepsy not confirmed, cytomegalovirus infection explained transient hepatic abnormalities; 18m-asymptomatic, normal development HSD17B10 HSD17B10 1 1 Johan den Dunnen
00391791 189P - - F no Spain - - - - - HSD10MD, ID - - HSD17B10 1 1 Alejandro Brea-Fernández
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