Disease #05191 (ADSD2 (degeneration, striatal, autosomal dominant, type 2 (ADSD2)), OMIM:616922)

Official abbreviation ADSD2
Name degeneration, striatal, autosomal dominant, type 2 (ADSD2)
OMIM ID 616922
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene PDE10A
Associated tissues -
Disease features -
Remarks -
Date created 2016-10-11 08:50:23 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00065109 27058447 induvidual 1 PubMed: Mencacci 2016, Journal: Mencacci 2016 - M - (Netherlands) European >11y - - - ADSD2 no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal swelling (HP:0010994), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal atrophy (-HP:0010994), restriction of diffusion PDE10A PDE10A 1 1 Pieter Klap
00065110 27058447 induvidual 2 PubMed: Mencacci 2016, Journal: Mencacci 2016 - F - (United Kingdom (Great Britain)) European >22y - - - ADSD2 no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal swelling (-HP:0010994), No restriction of diffusion, Bilateral striatal atrophy (HP:0010994), Anxiety (HP:0000739) PDE10A PDE10A 1 1 Pieter Klap
00065113 27058447 induvidual 3 PubMed: Mencacci 2016, Journal: Mencacci 2016 - F - (United Kingdom (Great Britain)) European >60y - - - ADSD2 no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal swelling (-HP:0010994), Bilateral striatal atrophy (HP:0010994), adult-onset parkinsonism (HP:0001300) PDE10A PDE10A 1 1 Pieter Klap
00065255 - PubMed: Niccolò 2016, Journal: Niccolò 2016 2 generation family, 1 affected, unaffected non-carrier parents M - - Dutch >11y - - - ADSD2 no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), bilateral striatal hyperintensities (HP:?), bilateral striatal swelling (HP:?), restriction of diffusion (HP:?), no bilateral striatal atrophy (-HP:?) PDE10A PDE10A 1 1 Jamie Zeegers
00065285 - PubMed: Niccolò 2016, Journal: Niccolò 2016 2 generation family, 1 affected, unaffected non-carrier parents F - - British >22y - - - ADSD2 no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), anxiety (HP:0000739), bilateral striatal hyperintensities (HP:?), no bilateral striatal swelling (-HP:?), no restriction of diffusion (-HP:?), bilateral striatal atrophy (HP:?) PDE10A PDE10A 1 1 Jamie Zeegers
00065286 - PubMed: Niccolò 2016, Journal: Niccolò 2016 2 generation family, 1 affected, unaffected non-carrier sibs, parents deceased F - - British >60y - - - ADSD2 no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), adult-onset parkinsonism (OMIM:612953), bilateral striatal hyperintensities (HP:?), no bilateral striatal swelling (-HP:?), bilateral striatal atrophy (HP:?) PDE10A PDE10A 1 1 Jamie Zeegers
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