Disease #04184 (stature, short (stature, short))

Official abbreviation stature, short
Name stature, short
OMIM ID -
Inheritance -
Individuals reported having this disease 89
Phenotype entries for this disease 78
Associated with 1 gene GINS3
Associated tissues -
Disease features -
Remarks -
Date created 2015-02-09 15:44:22 +01:00 (CET)
Date last edited 2015-02-09 15:45:17 +01:00 (CET)


Individuals

89 entries on 1 page. Showing entries 1 - 89.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00029678 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1872 Sophie Ran Wang
00029806 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029807 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029808 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029809 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029810 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029811 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029812 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029813 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029814 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029815 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029818 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029819 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00029820 - - - - - - - - - - - stature, short - NPR2 NPR2 1 1 Sophie Ran Wang
00038381 24001744-FamAPatII1 PubMed: Vasques 2013 2-generation family, affected father and daughter/son M - - - - - - - stature, short see paper; … NPR2 NPR2 1 3 Irfan Ullah
00038382 24001744-FamBPatIII1 PubMed: Vasques 2013 3-generation family, 4 affecteds (F, 3M) M - - - - - - - stature, short see paper; … NPR2 NPR2 1 4 Irfan Ullah
00038383 24001744-FamCPat3 PubMed: Vasques 2013 2-generation family, 1 affected - - - - - - - - stature, short see paper; ... NPR2 NPR2 1 1 Irfan Ullah
00038722 24471569-FamPat1 PubMed: Amano 2014 2-generation family, affected mother/son M - Japan Japanese - - - - stature, short see paper; ... NPR2 NPR2 1 2 Irfan Ullah
00038723 24471569-FamPat2 PubMed: Amano 2014 2-generation family, affected mother/daughter F - Japan Japanese - - - - stature, short see paper; ... NPR2 NPR2 1 2 Irfan Ullah
00047816 - PubMed: Prontera 2015, Journal: Prontera 2015 5-generation family, 21 affected (16F, 5M) - no Italy - - - - - stature, short see paper; high IGFI levels, short stature, type 2 diabetes (5 individuals), ... IGF1R IGF1R 1 22 Johan den Dunnen
00079714 - PubMed: Hwa 2006 - M yes Turkey - - - - - stature, short short stature, idiopathic, autosomal IGFALS IGFALS 1 1 Vivian Hwa
00079715 - PubMed: Domene 2007 family, 3 siblings M no United States white (Norway;Germany) - - - - stature, short short stature, idiopathic, autosomal IGFALS IGFALS 2 3 HM Domene
00079716 Sib2 PubMed: Domene 2007 - M no United States white (Norway;Germany) - - - - stature, short short stature, idiopathic, autosomal IGFALS IGFALS 2 1 HM Domene
00079717 Sib3 PubMed: Domene 2007 - F no United States white (Norway;Germany) - - - - stature, short short stature, idiopathic, autosomal IGFALS IGFALS 2 1 HM Domene
00079718 - PubMed: Heath 2008 - M no Spain white - - - - stature, short short stature, idiopathic, autosomal IGFALS IGFALS 1 1 J Argente & J Pozo
00079719 - PubMed: Heath 2008 - M no Spain white - - - - stature, short short stature, idiopathic, autosomal IGFALS IGFALS 1 1 J Argente & J Pozo
00079720 - PubMed: van Duyvenvoorde 2008 family, 3 siblings {FILE18463107fam.jpg:3 generation family} (III-1), {FILE18463107agrow.jpg:growth curve} M yes - Kurdish - - - - stature, short short stature, idiopathic, autosomal; dysmorphic face w/mandibular hypoplasia, prominent forehead IGFALS IGFALS 1 3 Hermine van Duyvenvoorde
00079721 PatIII2 PubMed: van Duyvenvoorde 2008 {FILE18463107fam.jpg:3 generation family} (III-2), {FILE18463107bgrow.jpg:growth curve} M yes - Kurdish - - - - stature, short short stature, idiopathic, autosomal IGFALS IGFALS 1 1 Hermine van Duyvenvoorde
00079722 PatIII4 PubMed: van Duyvenvoorde 2008 {FILE18463107fam.jpg:3 generation family} (III-4), {FILE18463107cgrow.jpg:growth curve} M yes - Kurdish - - - - stature, short short stature, idiopathic, autosomal; dysmorphic face w/mandibular hypoplasia, prominent forehead IGFALS IGFALS 1 1 Hermine van Duyvenvoorde
00079723 Case1 PubMed: Fofanova-Gambetti 2009 adopted child M - Guatemala Mayan, Spain - - - - stature, short short stature, idiopathic, autosomal IGFALS IGFALS 1 1 Vivian Hwa
00079727 - PubMed: Heath 2008 - M no Spain white - - - - stature, short short stature, idiopathic, autosomal IGFALS IGFALS 1 1 J Argente & J Pozo
00079729 - PubMed: Domene 2004, PubMed: Domene 2005, PubMed: Domene 2007 adopted child M - Argentina - - - - - stature, short mild micrognathia, truncal obesity; short stature, idiopathic, autosomal IGFALS IGFALS 1 1 HM Domene
00079752 20668042-Fam PubMed: van Duyvenvoorde 2010, Journal: van Duyvenvoorde 2010 3-generation family, 2 children, mother and maternal grandfather heterozygous carriers F;M no Netherlands - - - - - stature, short see paper; 2 index cases had severe short stature (height SD score -4.1 and-4.6), microcephaly, low IGF-I levels; adult height and head circumference SD score carriers was -2.5 and -1.8 (-1.6 and 0.3 in non-carriers) IGF1 IGF1 1 4 Hermine van Duyvenvoorde
00079780 - PubMed: Goddard 1995 - M no - - - - - not responsive to GH stature, short short stature, idiopathic GHR GHR 2 1 Johan den Dunnen
00079824 - PubMed: Sakurai 2002 - M - Japan - - - - - stature, short short stature; Growth Hormone Insensitivity; 9y-serum IGF-1 >30µg/l, serum GH level increased to 10.8µg/l by Arginine, to 9.1µg/L by Clonidine, to 2.0µg/l by Insulin.; basal IGFBP3 level 2.19µg/L, raised to 2.50µg/L after rgGH injections (6 days) GHR GHR 4 1 Johan den Dunnen
00079827 - PubMed: Bonioli 2005 - F - Italy - - - - - stature, short short stature, idiopathic; Growth Hormone Insensitivity Syndrome; bone age was 13y at chronological age of 14.3y GHR GHR 1 1 Johan den Dunnen
00079828 - PubMed: Bonioli 2005 - - - Italy - - - - - stature, short short stature, idiopathic GHR GHR 1 1 Johan den Dunnen
00079864 - PubMed: Bonioli 2005 - - - Italy - - - - - stature, short short stature, idiopathic GHR GHR 1 34 Johan den Dunnen
00079994 - - - M no - - - - - - stature, short - ACAN ACAN 1 1 Xuyun Hu
00079995 - - - M no - - - - - - stature, short - ACAN ACAN 1 1 Xuyun Hu
00079997 - - - M no - - - - - - stature, short - ACAN ACAN 1 1 Xuyun Hu
00081716 - - - M yes Turkey - - - - - stature, short , short stature of postnatal onset - SEMA3A 1 1 Andreas Janecke
00081725 - PubMed: Hofmann 2013, Journal: Hofmann 2013 2-generation family, 1 affected, unaffected non-carrier mother/carrier father M no Germany - - - - - stature, short see paper; ..., postnatal short stature, skeletal anomalies thorax, minor congenital heart defect, camptodactyly, minor further anomalies SEMA3A SEMA3A 4 1 Johan den Dunnen
00100794 22832530-Fam PubMed: Fuqua 2012, Journal: Fuqua 2012 5-generation family, 5 affecteds (2F, 3M) F;M no United States - - - - - stature, short see paper; index case postnatal growth retardation (-4.0 height SDS), serum IGF-I concentration low (115 µg/l, -2.21 SDS) and increased minimally to 130 µg/l (-1.82 SDS) on GH therapy; severe short stature could be traced back several generations, ... IGF1 IGF1 2 5 Johan den Dunnen
00100795 24243634- PubMed: Baley 2014, Journal: Baley 2014 2-generation family, 1 affected, father not available M no United States Irish - - - - stature, short see paper; idiopathic short stature, ... IGF1 IGF1 1 1 Johan den Dunnen
00100796 26902202-Fam1 PubMed: Dauber 2016, Journal: Dauber 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Spain Spanish - - - - stature, short see paper; progressive growth failure, moderate microcephaly, thin long bones, mildly decreased bone density, elevated circulating total IGF-I, IGFBP-3, IGFBP-5, acid labile subunit and IGF-II concentrations, ... PAPPA2 PAPPA2 1 2 Johan den Dunnen
00100797 26902202-Fam2 PubMed: Dauber 2016, Journal: Dauber 2016 2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs F;M yes Palestine Palestinian - - - - stature, short see paper; progressive growth failure, moderate microcephaly, thin long bones, mildly decreased bone density, elevated circulating total IGF-I, IGFBP-3, IGFBP-5, acid labile subunit and IGF-II concentrations, ... PAPPA2 PAPPA2 1 3 Johan den Dunnen
00110431 24471569-Pat3 PubMed: Amano 2014 - ? - Japan - - - - - stature, short - NPR2 NPR2 1 1 Johan den Dunnen
00115258 - Dr. Wohlleber, Bonn, Germany, pers. comm. - - - Germany white - - - - stature, short short stature, idiopathic? (ISS?) SHOX SHOX 1 1 Ralph Roeth
00115412 - Bioscientia, unpublished inheritance familial, found in affected son - - Germany - - - - - stature, short mild Dysproportion SHOX SHOX 1 2 Ralph Roeth
00115431 - Bioscientia, unpublished inheritance familial, found in unaffected father - - - - - - - - stature, short short stature, idiopathic? (ISS?) SHOX SHOX 1 2 Ralph Roeth
00115504 23636926-Pat141 PubMed: Bunyan 2013 - M - United Kingdom (Great Britain) - - - - - stature, short see paper; … SHOX SHOX 1 1 Johan den Dunnen
00115518 23636926-Pat318 PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) - - - - - stature, short see paper; … SHOX SHOX 1 1 Johan den Dunnen
00115525 23636927-Pat181 PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) - - - - - stature, short see paper; … SHOX SHOX 1 1 Johan den Dunnen
00115528 23636926-Pat93 PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) - - - - - stature, short see paper; … SHOX SHOX 1 1 Johan den Dunnen
00115529 23636926-Pat238 PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) - - - - - stature, short see paper; … SHOX SHOX 1 1 Johan den Dunnen
00260887 Fam1 PubMed: Hisado-Oliva 2018 2-generation family, 4 affected (4F) F - Spain - - - - - stature, short see paper; ... NPPC NPPC 1 4 Johan den Dunnen
00260889 Fam2 PubMed: Hisado-Oliva 2018 2-generation family, affected father/daughter F;M - Brazil - - - - - stature, short see paper; ... NPPC NPPC 1 2 Johan den Dunnen
00264073 CTSK-IV1 PubMed: Razmara 2020 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iran - ? - no none stature, short typical clinical features hereditary pycnodysostosis, abnormal skeletal system, scoliosis, short stature, skeletal dysplasia, increased bone density, open sutures of anterior fontanelle, closed posterior fontanelle, history of developed easy fractures (3x), asymmetric skull, macrocephaly, short fingers with dysplastic nails, midface retrusion; dental abnormalities including severe crowding, poor oral hygiene, periodontal problems, delayed exfoliation primary teeth, eruption permanent teeth, enamel hypoplasia, obliteration pulp chambers, hypercementosis; radiographs exhibit very obtuse mandibular angle, general increase bone density, open fontanels and sutures CTSK CTSK 1 1 Ehsan Razmara
00332518 patient PubMed: Eggermann 2021 2-generation family, 1 affected F no Germany - - - - - stature, short see paper; ..., KCNQ1OT1 KCNQ1, KCNQ1OT1 1 1 Johan den Dunnen
00375002 patient PubMed: Lui 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - stature, short see paper; ... - QRICH1 1 1 Johan den Dunnen
00403696 FamPat1 PubMed: Holling 2023 2-generation family, 2 affected sisters F yes - - - - - - stature, short see paper; ... - ACACA, CRYZ, CSDA, TMCO3 4 2 Tess Holling
00403697 FamPat2 PubMed: Holling 2023 sister F yes - - - - - - stature, short see paper; ... - TMCO3 1 1 Tess Holling
00404587 family PubMed: Nakajima 2021 2-generation family, 2 affected, sisters unaffected heterozygous carrier parents F - Japan - - - - - stature, short see paper; ..., short stature ARG1 ARG1 2 2 Johan den Dunnen
00466680 Pat1 PubMed: Plachy 2019 - F - Czech Republic - - - - - stature, short see paper; ..., small for gestational age; height SDS-4.32; birth weight SDS-1.64, length SDS-3.05 - COL11A1 1 1 Johan den Dunnen
00466681 Pat2 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, central hypothyroidism; height SDS-4.1; birth weight SDS-1.64, length SDS-2.39 - TRHR 1 1 Johan den Dunnen
00466682 Pat3 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age; height SDS-3.49; birth weight SDS-3.01, length SDS-3.87 - THRA 1 1 Johan den Dunnen
00466683 Pat4 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, advanced bone age (+1.9y); height SDS-3.42; birth weight SDS-1.62, length SDS-3.26 - IHH 1 1 Johan den Dunnen
00466684 Pat5 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age; height SDS-3.34; birth weight SDS-2.13, length SDS-3.52 - COL9A2 1 1 Johan den Dunnen
00466685 Pat6 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, scoliosis; height SDS-3.06; birth weight SDS-2.39, length SDS-2.57 - COL11A1 1 1 Johan den Dunnen
00466686 Pat7 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age; height SDS-2.92; birth weight SDS-1.35, length SDS-2.13 - IGF1R 1 1 Johan den Dunnen
00466687 Pat8 PubMed: Plachy 2019 - F - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, frequent otitis media acuta;, genua valga, advanced bone age (+3.4y); height SDS-2.76; birth weight SDS-2.56, length SDS-4.14 - COL2A1 2 1 Johan den Dunnen
00466688 Pat9 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency, minor stigmata, bilateral cryptorchidism; height SDS-4.95; birth weight SDS-0.94, length SDS-1.78 - IGFALS 1 1 Johan den Dunnen
00466689 Pat10;Pat14 PubMed: Plachy 2019, PubMed: Plachy 2023 - M - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency, B-cell immunity disorder, skin problems (hyperkeratosis, alopecia), corneal ulceratio; height SDS-4.48; birth weight SDS-1.06, length SDS-1.75 - MBTPS2, PIK3CD 2 1 Johan den Dunnen
00466690 Pat11 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency, limb shortening; height SDS-4.37; birth weight SDS-0.56, length SDS-1.04 - FGFR3 1 1 Johan den Dunnen
00466691 Pat12 PubMed: Plachy 2019 - F - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency, limb shortening; height SDS-3.5; birth weight SDS0.04, length SDS-0.95 - HSPG2 1 1 Johan den Dunnen
00466692 Pat13 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency; height SDS-3.1; birth weight SDS-0.85, length SDS-0.65 - PAX6 2 1 Johan den Dunnen
00466693 Pat14 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency; height SDS-3.06; birth weight SDS-1.94, length SDS-1.42 - HMGA2 1 1 Johan den Dunnen
00466694 Pat15 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency, minor stigmata; height SDS-3.04; birth weight SDS-1.57, length SDS-1.68 - IGFALS, IHH 2 1 Johan den Dunnen
00466695 Pat16 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency; height SDS-2.75; birth weight SDS-1.02, length SDS-1.35 - IGFALS 1 1 Johan den Dunnen
00466696 Pat17 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency; height SDS-2.53; birth weight SDS-1.6, length SDS-0.65 - FBN1, GH1 2 1 Johan den Dunnen
00466697 Pat18 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, growth hormone deficiency, hypospadia, minor stigmata; height SDS-4.17; birth weight SDS-1.95, length SDS-3.09 - HSPG2 1 1 Johan den Dunnen
00466698 Pat19 PubMed: Plachy 2019 - F - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, growth hormone deficiency, limb shortening; height SDS-3.82; birth weight SDS-0.84, length SDS-2.14 - GLI2 2 1 Johan den Dunnen
00466699 Pat21 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, growth hormone deficiency, microcephaly; height SDS-3.47; birth weight SDS-2.39, length SDS-3.00 - COL2A1 1 1 Johan den Dunnen
00466700 Pat23 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, growth hormone deficiency; height SDS-3.26; birth weight SDS-2.18, length SDS-2.22 - SHH 1 1 Johan den Dunnen
00466701 Pat24 PubMed: Plachy 2019 - F - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, growth hormone deficiency, lower-limb shortening, minor stigmata; height SDS-3.18; birth weight SDS-2.56, length SDS-3.13 - GHSR 1 1 Johan den Dunnen
00466702 Pat25 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, growth hormone deficiency, minor stigmata; height SDS-2.84; birth weight SDS-2.59, length SDS-2.83 - COL10A1 1 1 Johan den Dunnen
00466703 Pat27 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, growth hormone deficiency; height SDS-2.7; birth weight SDS-2.39, length SDS-3.43 - EXT2 1 1 Johan den Dunnen
00466704 Pat28 PubMed: Plachy 2019 - M - Czech Republic - - - - - stature, short see paper; ..., small for gestational age, growth hormone deficiency; height SDS-2.62; birth weight SDS-1.4, length SDS-2.22 - FLNB 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.