All individuals with variants in gene IGF1

10 entries on 1 page. Showing entries 1 - 10.
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00004053 - PubMed: Shaheen 2014, Journal: Shaheen 2014 4-generation family, 2 affecteds, unaffected heterozygous carrier parents M yes Saudi Arabia Arab - - - - DWFP see paper; ... 1 2 Fowzan Alkuraya
00079747 08857020 PubMed: Woods 1996, Journal: Woods 1996, Woods 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency severe pre- and postnatal growth failure, sensorineural deafness, mental retardation; insulin-like growth factor I deficiency; mild myopia; behavioral difficulties, hyperactivity, short attention span; no skeletal abnormalities; micrognathia, bilateral ptosis,; low hearline, bilateral clinodactyly, single palmar crease, 1 1 Hermine van Duyvenvoorde
00079748 14684690-Pat PubMed: Bonapace 2003, Concolino 2009 2-generation family, 1 affected, unaffected heterozygous carrier parent M - Italy Italy - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency intrauterine and postnatal growth failure, sensorineural deafness, mental retardation; insulin-like growth factor I deficiency; no skeletal abnormalities 1 1 Hermine van Duyvenvoorde
00079749 15769976-FamPatIV8 PubMed: Walenkamp 2005, Journal: Walenkamp 2005 6-generation family, affected brothers, 9 heterozygous carrier parents/relatives {FILE15769976fam.ppt:pedigree}, {FILE15769976patRV.jpg:the patient}, {FILE15769976tab.jpg:protein levels} M yes Netherlands Netherlands - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency severe intrauterine growth retardation, deafness, mental retardation, osteoporosis, partial gonadal dysfunction, relatively well-preserved cardiac function; insulin-like growth factor I deficiency; neurology normal; right radial fracture after minor trauma; no skeletal abnormalities; deep-set eyes, flat occiput, micrognathia; broad end phalanges, convex nails, hypermobility interphalangeal joints, restricted mobility elbows 1 11 Hermine van Duyvenvoorde
00079750 - - - - - - - - - - - ? - 1 1 Hermine van Duyvenvoorde
00079751 15769976-FamPatIV13 PubMed: Walenkamp 2005, Journal: Walenkamp 2005 - M yes Netherlands - - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - 1 1 Hermine van Duyvenvoorde
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) 1 4 Hermine van Duyvenvoorde
00100793 15769976-FamCar PubMed: Walenkamp 2005, Journal: Walenkamp 2005 9 heterozygous carriers F;M yes Netherlands - - - - - ? reduced birth weight and head circumference, lower height SDS, testicular volume males normal; fasting insulin levels significantly higher, higher total IGF-I levels, lower IGF-I bioactivity; BMD at the femoral neck and lumbar spine in normal range 1 9 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, ... 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, ... 1 1 Johan den Dunnen
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