Disease #03686 (ACRDYS2 (acrodysostosis, with/without hormone resistance, type 2), OMIM:614613)

Official abbreviation ACRDYS2
Name acrodysostosis, with/without hormone resistance, type 2
OMIM ID 614613
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 41
Phenotype entries for this disease 31
Associated with 1 gene PDE4D
Associated tissues -
Disease features flat anterior facies, mid-face hypoplasia, hypertelorism, small nose, depressed nasal bridge, short columella, long philtrum, prominent chin; no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); severe brachydactyly, skeletal dysplasia, multiple hormone resistance
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-01-03 20:03:14 +01:00 (CET)


Individuals

41 entries on 1 page. Showing entries 1 - 41.
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00064690 - PubMed: Michot 2012 - M - France - - - - - ACRDYS2 advanced bone age; nasal hypoplasia; depressed nasal bridge; prominent mandible; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay, psychomotoer delay (walked at 17m of age); intracranial hypertension with thrombophlebitis of the transverse sinus and jugular PDE4D PDE4D 1 1 Johan den Dunnen
00064691 - PubMed: Michot 2012 - M - France - - - - - ACRDYS2 intrauterine growth retardation; advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay requiring orthophony, fine-motor-skill impairment; intracranial hypertension with jugular stenosis requiring derivation PDE4D PDE4D 1 1 Johan den Dunnen
00064692 - PubMed: Lynch 2013, Journal: Lynch 2013 2-generation family, 1 affected (M) M - United States - - - - - ACRDYS2 - PDE4D PDE4D 1 1 Danielle Lynch
00064693 - PubMed: Michot 2012 - M - France - - - - - ACRDYS2 advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay requiring orthophony, fine-motor-skill impairment PDE4D PDE4D 1 1 Johan den Dunnen
00064694 - PubMed: Lee 2012 carries also NM_001195220.1(ZNF783_v001):c.187C>T F - United States - - - - - ACRDYS2 small hands, midface hypoplasia PDE4D PDE4D 1 1 Johan den Dunnen
00064695 - PubMed: Lynch 2013, Journal: Lynch 2013 2-generation family, 1 affected (F) F - United States - - - - - ACRDYS2 - PDE4D PDE4D 1 1 Danielle Lynch
00064697 - PubMed: Lynch 2013, Journal: Lynch 2013 2-generation family, 1 affected (F) F - United States - - - - - ACRDYS2 - PDE4D PDE4D 1 1 Danielle Lynch
00064698 - PubMed: Michot 2012 - M - France - - - - - ACRDYS2 advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay, psychomotor delay requiring physiotherapy PDE4D PDE4D 1 1 Johan den Dunnen
00064699 - PubMed: Lee 2012 - M - United States - - - - - ACRDYS2 mild short stature, small hands, midface hypoplasia, lumbar stenosis; significant developmental disability; cryptorchidism PDE4D PDE4D 1 1 Johan den Dunnen
00064700 - PubMed: Lee 2012 - M - United States - - - - - ACRDYS2 mild short stature, small hands, midface hypoplasia, lumbar stenosis; mild developmental disability; congenital hypothyroidism PDE4D PDE4D 1 1 Johan den Dunnen
00080728 - PubMed: Elli et al.2016 affected twins (male+female) - no (Italy) - - - - - ACRDYS2 PTH resistance, TSH resistance, obesity, mental retardation, craniosynostosis - PDE4D 1 1 Francesca Marta Elli
00080729 - PubMed: Elli et al.2016 - F no (Italy) - - - - - ACRDYS2 TSH resistance, short stature, obesity, brachydactily, mental rtardation cholelithiasis - PDE4D 1 1 Francesca Marta Elli
00080730 - PubMed: Elli et al.2016 - M no (Italy) - - - - - ACRDYS2 short stature, obesity, dysmorphic facies, brachydactily, mental retardation - PDE4D 1 1 Francesca Marta Elli
00080732 - PubMed: Elli et al.2016 - M no (Italy) - - - - - ACRDYS2 short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cryptorchidism, vesicoureteral reflux - PDE4D 1 1 Francesca Marta Elli
00080740 - PubMed: Mitsui et al.2014 - F ? - - - - - - ACRDYS2 PTH resistance, dysmorphic facies, btachydactily, shypo-deformity of knees - PDE4D 1 1 Francesca Marta Elli
00080741 - PubMed: Mitsui et al.2014 - F ? - - - - - - ACRDYS2 short stature, dysmorphic facies, brachydactily, mental retardation, shypo-deformity of knees and shoulders A1BG PDE4D 1 1 Francesca Marta Elli
00080759 - PubMed: Mitsui et al.2014 - F ? - - - - - - ACRDYS2 dysmorphic facies, brachydactily, mental retardation, failure to thrive, shypo-deformity of knees and shoulders - PDE4D 1 1 Francesca Marta Elli
00080760 - PubMed: Lindstrand et al.2014 - M - - - - - - - ACRDYS2 transient PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, recurrent otitis media, cryptorchidism - PDE4D 1 1 Francesca Marta Elli
00080761 - PubMed: Lindstrand et al.2014 - M - - - - - - - ACRDYS2 PTH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, DMT1, recurrent otitis media, lack of puberal growth spurt - PDE4D 1 1 Francesca Marta Elli
00080762 - PubMed: Lindstrand et al.2014 - M - - - - - - - ACRDYS2 PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, recurrent otitis media, hypertension, aortic valve insufficiency - PDE4D 1 1 Francesca Marta Elli
00080763 - PubMed: Lindstrand et al.2014 - M - - - - - - - ACRDYS2 - - - - 1 Francesca Marta Elli
00080764 - PubMed: Lindstrand et al.2014 - M - - - - - - - ACRDYS2 PTH resistance, short stature, obesity, dysmorphic facies, btachydactily, mental retardation, recurrent otitis media - PDE4D 1 1 Francesca Marta Elli
00080765 - PubMed: Lindstrand et al.2014 - F - - - - - - - ACRDYS2 short stature, obesity, dysmorphic facies, brachydactily, mental retardation, recurrent otitis media, unilateral hydronephrosis - PDE4D 1 1 Francesca Marta Elli
00080766 - PubMed: Linglart et al.2012 - F - - - - - - - ACRDYS2 short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age - PDE4D 1 1 Francesca Marta Elli
00080767 - PubMed: Linglart et al.2012 - F - - - - - - - ACRDYS2 obesity, dysmorphic facies, brachydatily, mental retardation, cone-shaped epiphyses, advanced bone age - PDE4D 1 1 Francesca Marta Elli
00080769 - PubMed: Kaname et al.2014 familial case - - - - - - - - ACRDYS2 borderline PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age - PDE4D 1 1 Francesca Marta Elli
00080770 - PubMed: Kaname et al.2014 - M - - - - - - - ACRDYS2 short stature, dysmorphic facies, brachydactily, mental retardation, advancd bone age - PDE4D 1 1 Francesca Marta Elli
00080771 - PubMed: Kaname et al.2014 - F - - - - - - - ACRDYS2 dysmorphic facies, brachydactily, mental retardation, advanced bone age - PDE4D 1 1 Francesca Marta Elli
00080772 - PubMed: Kaname et al.2014 - M - - - - - - - ACRDYS2 short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age - PDE4D 1 1 Francesca Marta Elli
00080773 - PubMed: Kaname et al.2014 familial case - - - - - - - - ACRDYS2 short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age - PDE4D 1 1 Francesca Marta Elli
00100343 - NOT PUBLISHED - F - Spain - - - - - ACRDYS2 - PDE4D PDE4D 1 1 Arrate Pereda
00100374 - NOT PUBLISHED 2-generation family, 2 affecteds (mother and son) F - (France) - - - - - ACRDYS2 - PDE4D PDE4D 1 2 Caroline Silve
00100375 - NOT PUBLISHED - M - (France) - - - - - ACRDYS2 - PDE4D PDE4D 1 1 Caroline Silve
00100376 - NOT PUBLISHED 2-generation family, 2 affecteds (mother and son) M - (France) - - - - - ACRDYS2 - PDE4D PDE4D 1 2 Caroline Silve
00100377 - NOT PUBLISHED - F - (France) - - - - - ACRDYS2 - PDE4D PDE4D 1 1 Caroline Silve
00100378 - NOT PUBLISHED - M - (France) - - - - - ACRDYS2 - PDE4D PDE4D 1 1 Caroline Silve
00100379 - NOT PUBLISHED - F - (France) - - - - - ACRDYS2 - PDE4D PDE4D 1 1 Caroline Silve
00100380 - NOT PUBLISHED - M - (France) - - - - - ACRDYS2 - PDE4D PDE4D 1 1 Caroline Silve
00100382 - NOT PUBLISHED 2-generation family, 2 affecteds, (children and mother) M - (France) - - - - - ACRDYS2 - PRKAR1A PRKAR1A 1 2 Caroline Silve
00131945 - NOT PUBLISHED - F - Portugal - - - - - ACRDYS2 severe brachydactyly; thick hair; hypertrichosis arms; hip bone replacement–osteoarthrosis; abnormal stature, normal teeth; mil/moderate intellectual disability; dysmorphic face; no clacifications; normal calcium homeastasis; high circulating parathyroid hormone (HP:0003165); vitamin D deficiency (HP:0100512) PDE4D PDE4D 1 1 Arrate Pereda
00315859 170352 - - F ? Germany - - - - - ACRDYS2 neurodevelopmental abnormality, global developmental delay, short stature, facial abnormality; delayed growth; progressive intellectual disability (HP:0006887); dysmorphic face (HP:0001999); decreased body weight (HP:0004325) PDE4D PDE4D 1 1 Andreas Laner
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