Disease #05525 (MOPD (dwarfism, primordial, osteodysplastic, microcephalic (MOPD)))

Official abbreviation MOPD
Name dwarfism, primordial, osteodysplastic, microcephalic (MOPD)
OMIM ID -
Inheritance -
Individuals reported having this disease 64
Phenotype entries for this disease 64
Associated with 2 genes PCNT, RNU4ATAC
Associated tissues -
Disease features -
Remarks -
Date created 2018-12-01 16:39:22 +01:00 (CET)
Date last edited N/A


Individuals

64 entries on 1 page. Showing entries 1 - 64.
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00207814 21474760-Fam1 PubMed: He 2011 7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam2) F yes United States Amish, Ohio - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 3 Johan den Dunnen
00207815 21474760-Fam2 PubMed: He 2011 7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam1) F yes United States Amish, Ohio - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 3 Johan den Dunnen
00207816 21474760-Fam3 PubMed: He 2011 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes United States Amish, Ohio - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 2 Johan den Dunnen
00207817 21474760-Fam4 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Amish, Ohio - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207818 21474760-Fam5 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Amish, Ohio - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207819 21474760-Fam6 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States Amish, Ohio - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207820 21474760-Fam7 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Amish, Ohio - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207821 21474760-FamPat8 PubMed: He 2011 unaffected heterozygous carrier parents - - Australia - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207822 21474760-FamPat9 PubMed: He 2011 unaffected heterozygous carrier parents - - Germany - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207823 21474760-FamPat10 PubMed: He 2011 unaffected heterozygous carrier parents - - Germany - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207824 21474761-Fam1 PubMed: Edery 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Algeria - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 2 Johan den Dunnen
00207825 21474761-Fam2 PubMed: Edery 2011 3-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207826 21474761-Fam3 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Morocco - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207827 21474761-Fam4 PubMed: Edery 2011 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Morocco - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 2 Johan den Dunnen
00207828 21474761-Fam5 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207829 21474761-Fam6 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207830 21474761-Fam7 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207831 21474761-Fam8 PubMed: Edery 2011 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents F - Norway - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 3 1 Johan den Dunnen
00207836 22581640-Fam1Pat1 PubMed: Abdel-Salam 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Egypt - - - - - MOPD see paper; no severe developmental delay, no neurological symptoms, ... RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207837 22581640-Fam2Pat2/3 PubMed: Abdel-Salam 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F;M yes Yemen - - - - - MOPD see paper; no severe developmental delay, no neurological symptoms, ... RNU4ATAC RNU4ATAC 1 2 Johan den Dunnen
00207838 21815888-Pat1 PubMed: Nagy 2012 - F - United States Amish 1y6m - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207839 21815888-Pat2 PubMed: Nagy 2012 - F - United States Amish 3m15d - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207840 21815888-Pat3 PubMed: Nagy 2012 - F - United States Amish 2m23d - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features; skin/hair features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207841 21815888-Pat4 PubMed: Nagy 2012 - F - United States Amish 10m - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207842 21815888-Pat5 PubMed: Nagy 2012 - M - United States Amish 9m15d - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features; no other organ anomalies; skin/hair features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207843 21815888-Pat6 PubMed: Nagy 2012 - F - United States Amish - - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207844 21815888-Pat7 PubMed: Nagy 2012 - - - United States Amish - - - - MOPD - RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207845 21815888-Pat8 PubMed: Nagy 2012 - - - United States Amish - - - - MOPD - RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207846 21815888-Pat9 PubMed: Nagy 2012 - M - United States Amish 10m - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207847 21815888-Pat10 PubMed: Nagy 2012 - F - United States Amish 10m - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair featuresm RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207848 21815888-Pat11 PubMed: Nagy 2012 - F - United States Amish 4m15d - - - MOPD - RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207849 21815888-Pat12 PubMed: Nagy 2012 - F - United States Amish 8m15d - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; no other organ anomalies; skin/hair features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207850 21815888-Pat13 PubMed: Nagy 2012 - F - United States Amish >1y - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207851 21815888-Pat14 PubMed: Nagy 2012 - F - United States Amish 8m15d - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features; hydrocephaly; skin/hair features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207852 21815888-Pat15 PubMed: Nagy 2012, Haan 1989 - M - Malta - 1m - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; skin/hair features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207853 21815888-Pat16 PubMed: Nagy 2012 - F - Germany - >9y - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; no musculoskeletal features; skin/hair features RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207854 21815888-Pat17 PubMed: Nagy 2012,Klinge 2002 - M - Germany - >12y9m - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; 2y-acute lymphocytic leukemia; skin/hair features RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207855 21990275-Fam1PatIV2/3 PubMed: Abdel-Salam 2011 4-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207856 23794361-Fam1Pat1/2 PubMed: Abdel-Salam 2013 2-generation family, affected brothers, unaffected heterozygous carrier parents M - Egypt - - - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 1 2 Johan den Dunnen
00207857 23794361-Fam2Pat3 PubMed: Abdel-Salam 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207858 23794361-Fam3Pat4/5 PubMed: Abdel-Salam 2013 2-generation family, affected sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 1 2 Johan den Dunnen
00207859 25735804-Fam1Pat1 PubMed: Kilic 2015 - M yes Turkey - >03y - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207860 26419500-FamPat1 PubMed: Abdel-Salam 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - >18y - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207862 21815888-Pat1 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207863 21815888-Pat2 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Malta - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207864 21815888-Pat3 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Turkey - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207865 21815888-Pat4 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Rwanda - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207866 21815888-Fet1 PubMed: Putoux 2016 2-generation family, affected fetus, unaffected heterozygous carrier parents - - France - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207867 21815888-Fet2 PubMed: Putoux 2016 2-generation family, affected fetus, unaffected heterozygous carrier parents - - Netherlands - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207868 21815888-Fet3/4 PubMed: Putoux 2016 2-generation family, affected twin fetuses, unaffected heterozygous carrier parents - - France - - - - - MOPD see paper; … RNU4ATAC RNU4ATAC 2 2 Johan den Dunnen
00207869 27312855-FamPat PubMed: Ferrell 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States - - - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207870 28623346-Fam2PatII1/2 PubMed: Bogaert 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Belgium - - - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 2 2 Johan den Dunnen
00207873 29263834-FamK1PatIII3 PubMed: Dinur Schejter 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 1 1 Johan den Dunnen
00207874 29263834-FamK2PatII1 PubMed: Dinur Schejter 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no India Tamil - - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207880 30455926-Pat1 PubMed: Hallermayr 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - - - - - MOPD see paper; ... RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00225597 - Journal: Tarnauskaite 2019 - F yes Italy - - - - - MOPD see paper; ... - DNA2 1 1 David A. Parry
00225620 - Journal: Tarnauskaite 2019 - F - - - - - - - MOPD see paper; ... DNA2 DNA2 1 1 David A. Parry
00225622 P3 Journal: Tarnauskaite 2019 - F no United States - - - - - MOPD see paper; ... - DNA2 2 1 David A. Parry
00225623 P4 Journal: Tarnauskaite 2019 - M no India - - - - - MOPD see paper; ... - DNA2 1 1 David A. Parry
00359446 - - - - - (Brazil) - - - - - MOPD - - PCNT 1 1 Cynthia Silveira
00460156 FamPatII1/2 PubMed: Kantaputra 2011 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Thailand - - - - - MOPD see paper; ..., intra-uterine growth retardation, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia, opalescent teeth, abnormally shaped teeth, rootless molars, all teeth small, mandibular premolars unusually small/malformed, teeth loose, occlusal/incisal surfaces wore off very quickly PCNT PCNT 2 2 Johan den Dunnen
00460157 Fam2PatII1/2 PubMed: Kantaputra 2011 5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M - Thailand - - - - - MOPD see paper; ..., IUGR, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia; skin anomalies PCNT PCNT 1 2 Johan den Dunnen
00460159 Fam1 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Israel Druze - - - - MOPD see paper; ... PCNT PCNT 1 1 Johan den Dunnen
00460160 Fam2 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Israel Druze - - - - MOPD see paper; ... PCNT PCNT 1 1 Johan den Dunnen
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