All individuals with variants in gene IGF1R

31 entries on 1 page. Showing entries 1 - 31.
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00046337 - PubMed: Prontera 2015, Journal: Prontera 2015 5-generation family, 1 affected (SHORT syndrome), heterozygous carriers have short stature F yes Italy - - - - - SHORT see paper; SHORT syndrome, high IGFI levels, CNS defects, developmental delay, pronounced progeroid appearance, ... 1 1 B. Augello
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), ... 1 22 Johan den Dunnen
00079759 - PubMed: Abuzzahab 2003, PubMed: Raile 2006 older brother of 16569742.c2, son of 16569742.c3 M no (Germany) - - - - - IGF1RES insulin-like growth factor 1, resistance to; neurology normal; retardation of speech, primary microcephaly, bilateral clinodactyly; pectus excavatum; Broad nasal bridge,thin u.lip,long & smooth philtrum,broad l.lip,bushy eyebrows, receding hairline; Clinodactyly, pectus excavatum, short broad fingers, short distal phalanges 1 1 Patricia Willemse
00079760 - PubMed: Raile 2006 older brother of 14657428.p2, son of 16569742.c3; broad, round nasal tip, short broad fingers M no (Germany) - - - - - IGF1RES insulin-like growth factor 1, resistance to; Growth pattern same as older brother; Broad nasal bridge, long&smooth philtrum, thin upper lip, inverted fleshy lower lip; Short distal falanges, bilateral clinodactyly 1 1 Patricia Willemse
00079761 - {PMID16569742:Raile 2006} mother of 14657428.p2 and 16569742.c2 F - (Germany) - - - - - IGF1RES insulin-like growth factor 1, resistance to; Primary microcephaly 1 1 Patricia Willemse
00079762 - - - F - Netherlands - - - - W.A. Ester et al, table 1 shows the changes before and after GH therapy Growth retardation with deafness and mental retardation due to IGF1 deficiency insulin-like growth factor I deficiency; neurology normal; Bilateral hearing loss, hyperlaxity of joints; Dimples in lumbar region; Triangular face, low placed posterior rotated ears, medial flaring eyebrows; Hypertelorsim, bilateral clinodactyly; delayed dentition and hypocanthal folds 1 1 Patricia Willemse
00079763 - - - M - (Netherlands) - - - - - ? delayed growth; Has hearing and speech difficulties; Thin upper lip; Hypertelorism, upward slant, extra nipple; rotation deformity tibial bones, proximal implanted thumbs, broad feet 1 1 Patricia Willemse
00079764 - PubMed: Hwa 2005 affected mother (15928254.c2) diagnosed with IUGR and short stature F no Japan Japanese - - - - IGF1RES insulin-like growth factor 1, resistance to; Intelligence quotient; IUGR, at 2y noticed to have growth failure 1 1 Patricia Willemse
00079766 - PubMed: Inagaki 2007 - F - Russian Federation Russian - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency insulin-like growth factor I deficiency; Triangular shape of face; Small hands and feet; younger brother birth length 50cm, birth weight 3000g, height 86cm (-1.2) at 2.5 y; aunt height 128cm (-5.7), menarche at 13y; several maternal siblings died in neonatal period due to unknown causes 1 1 Patricia Willemse
00079769 - PubMed: Fang 2009 - M no (United States) white - - - - IGF1RES 11.3y, GH therapy (0.7mg/kg/wk), height velocity 7.2cm/yr; 7.5m GH therapy Tanner II scrotal hair; IQ age-appropriate school level; affected mother and maternal half brother (15y, 166.4cm -0.5SDS) at 15y, sister of patient 9.5y, 123.2cm, -1.94 SDS;i nsulin-like growth factor 1, resistance to; neurology normal; Bifid Uvula, microcephalic 1 1 Patricia Willemse
00079771 - PubMed: Walenkamp 2008 two siblings of patient had a normal height F no - - - - - - ? regular menstrual cycle, speech development slow; no skeletal abnormalities; abdominal fat distributed in a lobular patternt; high pitched voice, extreme myopia, motor development normal, sit 10m, w 17m 1 1 Patricia Willemse
00079772 - PubMed: Walenkamp 2006 mother of t16757531.p2 F no (Netherlands) - - - - - IGF1RES insulin-like growth factor 1, resistance to; Postnatally severe failure to thrive; no facial dysmorphism; 1975 (35y) Arginine stimulation test with maximal GH respons of 62mU/L; needed postnatally nasogastric tube feeding (first year of life), due to poor appetite; pregnancy complicated by Hyperemesis Gravidarum; IQ above average 1 1 Patricia Willemse
00079773 - PubMed: Walenkamp 2006 daugther of 16757531.p1, father Hindoestani descent F - (Netherlands) Hindoestani - - - - IGF1RES insulin-like growth factor 1, resistance to; Extremly poor appetite; Brachycephaly; Hypotelorism, triangular face, small mouth, thin lips, prominent ears; placental weight 290g, -2.4SDS; pregnancy complicated by Hyperemesis Gravidarum, Oligohydramnion; at 10m Percutaneous Gastrostoma positioned, failure to thrive persisted; psychomotor development showed 3m motor delay (Bayley test); 14m Arginine stimulation test 1 1 Patricia Willemse
00079781 - PubMed: Abuzzahab 2003 - F no (United States) - - - - - IGF1RES insulin-like growth factor 1, resistance to; Psychomotor agitation; nonverbal learning disorder, social phobias; acquisition of gross and fine motor skills mildly delayed; first tooth erupted at 14m; verbal IQ 134, performance IQ 89; rapid, pressured speech, anxious affect; obsessive tendencies, excessive fantasy role playing, social phobias; rate acquisition secudary sexual characteristics normal 2 1 Patricia Willemse
00079803 - PubMed: Hwa 2005 - F - Japan - - - - - Healthy/Control - 1 13 Johan den Dunnen
00079804 - PubMed: Kawashima 2005 - ? - Japan - - - - - ? , unexplained IUGR; birthweight (<-1.5 SD) and short stature (<-2.0 SD) 1 2 Johan den Dunnen
00079805 - PubMed: Kawashima 2005 - ? no Japan - - - - - ? , unexplained IUGR; birth weight (<-1.5 SD), short stature (<-2.0 SD) 1 1 Johan den Dunnen
00079806 - PubMed: Hwa 2005 - - - Japan - - - - - Healthy/Control - 1 15 Johan den Dunnen
00079807 - PubMed: Hwa 2005 - - - Japan - - - - - Healthy/Control - 1 2 Johan den Dunnen
00079808 - PubMed: Hwa 2005 - - - Japan - - - - - Healthy/Control - 1 16 Johan den Dunnen
00079809 - PubMed: Hwa 2005 - - - Japan - - - - - Healthy/Control - 1 15 Johan den Dunnen
00079810 - PubMed: Hwa 2005 - - - Japan - - - - - Healthy/Control - 1 18 Johan den Dunnen
00079869 - PubMed: Wallborn 2010 - F - Germany - - - - - IGF1RES insulin-like growth factor 1, resistance to; developmental delay (Kaufmann Assessment for Children -2.0 SDS); no skeletal abnormalities; no facial dysmorphism; 1 2 Jürgen Klammt
00080116 22683032-PatSR6882 PubMed: Spengler 2012, for EUCID-SRS consortium - F - - - - - - - ?, SRS;RSS - 1 1 Zeynep Tümer
00080117 19752157-PatSRS-ue-6 PubMed: Bruce 2009, for EUCID-SRS consortium - F - - - - - - - SRS;RSS - 1 1 Zeynep Tümer
00269866 Fam PubMed: Mohn 2011 2-generation family, 4 affected (3F, M), proband, sister, 2 maternal aunts (father deceaxed) F;M - Italy - - - - - ? see paper; ..., short stature, impaired carbohydrate homeostasis 1 4 Johan den Dunnen
00291349 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 195 Mohammed Faruq
00291350 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 150 Mohammed Faruq
00304486 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00304487 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00418712 Fam14 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD speech delay; motor delay; intellectual disability; no autism spectrum disorder; no behavioral problems; no facial dysmorphism; enuresis; microcephaly, scoliosis, reflux 1 1 Johan den Dunnen
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