Disease #00232 (SRS;RSS (Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))), OMIM:180860)

Official abbreviation SRS;RSS
Name Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))
OMIM ID 180860
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 111
Phenotype entries for this disease 110
Associated with 4 genes CDKN1C, HMGA2, IGF2, PLAG1
Associated tissues -
Disease features -
Remarks -


Individuals

111 entries on 2 pages. Showing entries 1 - 100.
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00004491 - PubMed: Azzi 2009 - ? ? France - - - - - SRS;RSS - PLAGL1 PLAGL1 1 1 Johan den Dunnen
00004492 - PubMed: Azzi 2009 - ? ? France - - - - - SRS;RSS - PLAGL1 PLAGL1 1 1 Johan den Dunnen
00004493 - PubMed: Azzi 2009 - ? ? France - - - - - SRS;RSS - PLAGL1 PLAGL1 1 1 Johan den Dunnen
00004494 - PubMed: Azzi 2009 - ? ? France - - - - - SRS;RSS - PLAGL1 PLAGL1 1 1 Johan den Dunnen
00004495 - PubMed: Azzi 2009 - ? ? France - - - - - SRS;RSS - PLAGL1 PLAGL1 1 1 Johan den Dunnen
00004496 - PubMed: Azzi 2009 - ? ? France - - - - - SRS;RSS - PLAGL1 PLAGL1 1 1 Johan den Dunnen
00004497 - PubMed: Azzi 2009 - ? ? France - - - - - SRS;RSS - PLAGL1 PLAGL1 1 1 Johan den Dunnen
00016430 24065356-FamPatIV1 PubMed: Brioude 2013 4-generation family, 9 affecteds (9F), patient IV1 F - France - - 0 - growth hormone therapy SRS;RSS - CDKN1C CDKN1C 1 9 Eamonn Maher
00024934 - PubMed: Eggermann 2013 - M no Germany - >04y 0 - - SRS;RSS see paper for detailed description MEST MEST 1 1 Johan den Dunnen
00027197 - PubMed: Kagami 2014 - M no Japan - - 0 - - SRS;RSS karyotype 46XY, birth length 46.5cm (-2.1 SD), birth weight 2.2 kg (-2.7 SD), birth occipitofrontal circumference 32.5cm (-0.7 SD); present height 120.4cm (-2.3 SD), present weight 26.5kg (-0.7 SD), BMI 18.3 (+1.0 SD), present occipitofrontal circumference 51.5cm (-0.9 SD); speech delayed (HP:0000750); small hands (HP:0200055); single palmar crease (HP:0000954); brachydactyly (HP:000156); clinodactyly (HP:0030084); joint hypermobility (HP:0001382); ear abnormality (HP:0000598); irregular teeth (HP:0040079); no precocious puberty (-HP:0000826); no intellectual disability (-HP:0001249); muscular hypotonia (HP:0001252); dysmorphic face (HP:0001999) GNAS, H19, KCNQ1, MEG3, MEST, PLAGL1, SNRPN GNAS, H19, KCNQ1, MEG3, MEST, PLAGL1, SNRPN 52 1 Johan den Dunnen
00027198 - PubMed: Kagami 2014 in vitro fertilization-embryo transfer F no Japan - - 0 - 7y-gonadotropin-releasing hormone analog (precocious puberty, breast development) SRS;RSS karyotpe 46XX, birth length 36.5cm (-6.0 SD), birth weight 1.2 kg (-4.6 SD), birth occipitofrontal circumference 30.0 cm (-2.0 SD); menarche 8y8m (normal 12.3y +/-1.3y); present height 125.5cm (-1.0 SD), present weight 22.3kg (-1.2 SD), BMI 14.2 (-1.1 SD), present occipitofrontal circumference 50.3cm (-1.5 SD); recurrent otitis media (HP:0000403); small hands (HP:0200055); no single palmar crease (-HP:0000954); no brachydactyly (-HP:000156); clinodactyly (HP:0030084); puberty, precocious (HP:0000826); no intellectual disability (-HP:0001249); no muscular hypotonia (-HP:0001252); dysmorphic face (HP:0001999) GNAS, H19, KCNQ1, MEG3, MEST, PLAGL1, SNRPN GNAS, H19, KCNQ1, MEG3, MEST, PLAGL1, SNRPN 18 1 Johan den Dunnen
00080067 Pat? PubMed: Eggermann 2012, for EUCID-SRS consortium - M - Germany - - 0 - - ?, SRS;RSS - - MEST 1 1 Zeynep Tümer
00080068 26663145-Pat PubMed: Carrera 2015, for EUCID-SRS consortium - M - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080069 10987657-FamPatLB PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium daughter of TB F - United Kingdom (Great Britain) - - 0 - - ?, SRS;RSS - - GRB10, IGFBP1 1 1 Zeynep Tümer
00080070 10987657-FamPatTB PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium 2-generation family, affected mother/Daughter, mother of patient LB F - United Kingdom (Great Britain) - - 0 - - ?, SRS;RSS - - GRB10, IGFBP1 1 2 Zeynep Tümer
00080072 11829489-Pat5 PubMed: Nakabayashi 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium - M - Canada - - 0 - - ?, SRS;RSS - - C7orf10 1 1 Zeynep Tümer
00080073 10631135-PatDP, 11829489-Pat4 PubMed: Monk 2000, PubMed: Monk 2002, PubMed: Nakabayashi 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - GRB10, IGFBP1, IGFBP3 1 1 Zeynep Tümer
00080074 10227403-Pat PubMed: Miyoshi 1999, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - - 3 1 Zeynep Tümer
00080075 12384779-PatAM PubMed: Monk 2002, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080076 12384779-PatAG PubMed: Monk 2002, for EUCID-SRS consortium - M - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080077 12384779-PatTP PubMed: Monk 2002, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - - 4 1 Zeynep Tümer
00080078 12384779-FamPatHC PubMed: Monk 2002, for EUCID-SRS consortium 2-generation family, affected mother/son, mother of patient AC F - - - - 0 - - ?, SRS;RSS - - - 1 2 Zeynep Tümer
00080079 12384779-FamPatAC PubMed: Monk 2002, for EUCID-SRS consortium son of patient HC M - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080080 12384779-PatPW PubMed: Monk 2002, for EUCID-SRS consortium - M - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080081 16317300-Pat PubMed: Eggermann 2006, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 3 1 Zeynep Tümer
00080082 11754068-Pat? PubMed: Kato 2001, PubMed: Fokstuen 2013, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00080083 23225375-Pat PubMed: Hu 2013, PubMed: Fokstuen 2013, for EUCID-SRS consortium mother has balanced complex translocation F - - - - 0 - - ?, SRS;RSS - - CDKN1C, IGF2 3 1 Zeynep Tümer
00080084 18798325-Pat2 PubMed: South 2008, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - 0 - - SRS;RSS - - CDKN1C, IGF2 2 1 Zeynep Tümer
00080085 19735747-PatAII3 PubMed: Bliek 2009, PubMed: Begemann 2012, PubMed: Fokstuen 2013, PubMed: Brown 2014, for EUCID-SRS consortium - F - - - - 0 - - SRS;RSS - - CDKN1C, IGF2 4 1 Zeynep Tümer
00080086 21920939-SRSPat1 PubMed: Chiesa 2012, PubMed: Begemann 2012, PubMed: Fokstuen 2013, PubMed: 24668696, for EUCID-SRS consortium another patient in family with same karyotype paternally inherited BWS M - - - - 0 - - ?, SRS;RSS - - - 3 1 Zeynep Tümer
00080087 21780245-PatS72P PubMed: Demars 2011, PubMed: Brown 2014, for EUCID-SRS consortium mother has duplication paternally inherited F - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00080088 22844132-PatM11221 PubMed: Begemann 2012, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium 2-generation family, 1 affected; two sisters have duplication but no UPD6 (mat) F - - - - 0 - - SRS;RSS - - - 4 1 Zeynep Tümer
00080089 22844132-PatM6443 PubMed: Begemann 2012, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080090 21278389-Pat1 PubMed: Grønskov 2010, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - H19 3 1 Zeynep Tümer
00080091 21278389-Pat2 PubMed: Grønskov 2010, for EUCID-SRS consortium patient has sister (patient 3) with same phenotype and aberration M - - - - 0 - - SRS;RSS - - - 3 2 Zeynep Tümer
00080092 21278389-Pat4 PubMed: Grønskov 2010, PubMed: Murphy 2008, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - - 5 1 Zeynep Tümer
00080093 16963484-Pat PubMed: Schönherr 2007, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00080094 24668696-PatIV5 PubMed: Brown 2014, for EUCID-SRS consortium 4-generation family, 4 affected females, 2 unaffected heterozygous carriers (F, M), affected when maternally inherited, patient IV.5 F - United States - - 0 - - ?, SRS;RSS - - - 3 4 Zeynep Tümer
00080095 24550760-Pat PubMed: Palumbo 2014, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080096 23243085-Fet2 PubMed: Crescenzo 2013, for EUCID-SRS consortium family, 2 affected fetuses, fetus 1 affected similarly - - - - <00y00m 0 - - ?, SRS;RSS - - KCNQ1, KCNQ1OT1 2 2 Zeynep Tümer
00080097 21910219-PatIII7 PubMed: 21910219, PubMed: 24664587, PubMed: 24668696, for EUCID-SRS consortium familial aberration, several carriers, several affected when maternally inherited M - - - - 0 - - ?, SRS;RSS - - - 2 1 Zeynep Tümer
00080098 15863658-PatSR46 PubMed: Eggermann 2005, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00080099 15863658-PatSR90 PubMed: Eggermann 2005, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - - 2 1 Zeynep Tümer
00080100 20503324-Fam PubMed: Eggermann 2010, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium familial transloction M - - - - 0 - - SRS;RSS - - - 4 1 Zeynep Tümer
00080101 12215843-Pat1 PubMed: Fisher 2002, PubMed: Fokstuen 2013, PubMed: Brown 2014, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080102 12215843-Pat2 PubMed: Fisher 2002, PubMed: Fokstuen 2013, PubMed: Brown 2014, for EUCID-SRS consortium mother 46,XX,t(11;20)(p15.3;q13.33) F - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00080103 12215843-Pat3 PubMed: Fisher 2002, for EUCID-SRS consortium mother 46,XY,t(15)t(11;15)(p11.2;q11.2) M - - - <00y00m 0 - - ?, SRS;RSS - - - 2 1 Zeynep Tümer
00080104 20028213-Pat PubMed: Cardarelli 2010, PubMed: Fokstuen 2013, for EUCID-SRS consortium mother has BWS and same microduplication (paternally inherited) F - - - - 0 - - ?, SRS;RSS - - - 3 1 Zeynep Tümer
00080105 08403458-Pat PubMed: Midro 1993, PubMed: Fokstuen 2013, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 4 1 Zeynep Tümer
00080106 25951829-Pat PubMed: Azzi 2015, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080107 22683032-PatSR9116 PubMed: Spengler 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080108 22683032-PatSR5695 PubMed: Spengler 2012, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080109 12161598-Pat PubMed: VanHaelst 2002 PubMed: Fokstuen 2013, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080110 10406663-Pat PubMed: Lacassie 1999, PubMed: Fokstuen 2013, for EUCID-SRS consortium - M - - - - 0 - - ?, SRS;RSS - - - 2 1 Zeynep Tümer
00080111 27172843-PatSR-KL PubMed: Sachwitz 2016, for EUCID-SRS consortium - M - - - - 0 - - ?, SRS;RSS - - WHSC1 2 1 Zeynep Tümer
00080112 27172843-PatSRS-ER PubMed: Sachwitz 2016, for EUCID-SRS consortium - F - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080113 07515753-Pat PubMed: Schinzel 1994 PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080114 19762329-PatSR29 PubMed: Spengler 2010, for EUCID-SRS consortium - F - - - - 0 - - SRS;RSS - - HMGA2, LEMD3 1 1 Zeynep Tümer
00080115 24658748-PatSRS-TM PubMed: Eggermann 2014, PubMed: Sachwitz 2016, for EUCID-SRS consortium - - - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00080116 22683032-PatSR6882 PubMed: Spengler 2012, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - IGF1R 1 1 Zeynep Tümer
00080117 19752157-PatSRS-ue-6 PubMed: Bruce 2009, for EUCID-SRS consortium - F - - - - 0 - - SRS;RSS - - IGF1R 1 1 Zeynep Tümer
00080118 22683032-PatSR596/07 PubMed: Spengler 2012, PubMed: Spengler 2013, for EUCID-SRS consortium - M - - - - 0 - - ?, SRS;RSS - - ANKRD11, SPG7 1 1 Zeynep Tümer
00080119 22683032-PatSR8464 PubMed: Spengler 2012, PubMed: Fokstuen2013, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080120 22683032-PatPSR10177 PubMed: Spengler 2012, PubMed: Fokstuen2013, for EUCID-SRS consortium - M - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080121 22903743-Pat PubMed: Coutton 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00080122 23533668-Pat73 PubMed: Fuke 2013, for EUCID-SRS consortium - ? - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080123 01633648-Pat PubMed: Ramírez-Duenas 1992, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - 0 - - SRS;RSS - - - 4 1 Zeynep Tümer
00080125 23745689-Pat PubMed: Eggermann 2014, PubMed: Eggermann 2014, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00080126 27172843-PatSR-GG PubMed: Sachwitz 2016, for EUCID-SRS consortium - M - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080127 22683032-PatSR1251/06 PubMed: Spengler 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium - M - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080128 22683032-PatSR6820 PubMed: Spengler 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium 2-generation family, sister SR10737 and mother had IUGR and PNGR F - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080129 19752157-PatSRS-ue-4 PubMed: Bruce 2009, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080130 19752157-PatSRS-ue-5 PubMed: Bruce 2009, PubMed: Fokstuen 2013, for EUCID-SRS consortium - M - - - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00080131 22683032-PatSR7705 PubMed: Spengler 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00080132 27172843-PatSRS-AB PubMed: Sachwitz 2016, for EUCID-SRS consortium - F - Germany - - 0 - - ?, SRS;RSS - - - 1 1 Zeynep Tümer
00103959 28489339-Pat1 PubMed: Yamoto 2017 - M no Japan - - 0 - - SRS;RSS brachydactyly (HP:000156); clinodactyly (HP:0030084) - IGF2 1 1 Kaori Yamoto
00117196 25809938-PatII3 PubMed: De Crescenzo 2015, for EUCID-SRS consortium 3-generation family, 4 affecteds (3F, M), mother II3 F - Italy - - 0 - - SRS;RSS - HMGA2 HMGA2 1 4 Zeynep Tümer
00117197 25809938-PatIII1 PubMed: De Crescenzo 2015, for EUCID-SRS consortium daughter III1 F - Italy - - 0 - - SRS;RSS - HMGA2 HMGA2 1 1 Zeynep Tümer
00117198 28796236-Pat PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - 0 - - SRS;RSS - HMGA2 HMGA2 1 1 Zeynep Tümer
00117199 28796236-Pat PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - 0 - - SRS;RSS - HMGA2 HMGA2 1 1 Zeynep Tümer
00117200 28796236-FamPatI2 PubMed: Abi Habib 2017, for EUCID-SRS consortium 2-generation family, 3 affecteds, mother PatI2 F - - - - 0 - - SRS;RSS - PLAG1 PLAG1 1 3 Zeynep Tümer
00117201 28796236-FamPatII1 PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - 0 - - SRS;RSS - PLAG1 PLAG1 1 1 Zeynep Tümer
00117202 28796236-PatII2 PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - 0 - - SRS;RSS - PLAG1 PLAG1 1 1 Zeynep Tümer
00117203 24065356-FamPatIII6 PubMed: Brioude 2013, for EUCID-SRS consortium - F - France - - 0 - - SRS;RSS - CDKN1C CDKN1C 1 1 Zeynep Tümer
00117204 24065356-FamPatIII4 PubMed: Brioude 2013, for EUCID-SRS consortium - F - France - - 0 - - SRS;RSS - CDKN1C CDKN1C 1 1 Zeynep Tümer
00117205 24065356-FamPatII1 PubMed: Brioude 2013, for EUCID-SRS consortium - F - France - - 0 - - SRS;RSS - CDKN1C CDKN1C 1 1 Zeynep Tümer
00117206 24065356-Pat PubMed: Brioude 2013, for EUCID-SRS consortium - - - - - - 0 - - SRS;RSS - IGF2 IGF2 1 1 Zeynep Tümer
00117207 28796236-Pat PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - 0 - - SRS;RSS - IGF2 IGF2 1 1 Zeynep Tümer
00117208 26154720-FamPatIII3 PubMed: Begemann 2015, for EUCID-SRS consortium 4-generation family, 4 affecteds (2F, 2M), patient III3 M - Germany - - 0 - - SRS;RSS - IGF2 IGF2 1 4 Zeynep Tümer
00117209 26154720-FamPatIII4 PubMed: Begemann 2015, for EUCID-SRS consortium pat III4 F - Germany - - 0 - - SRS;RSS - IGF2 IGF2 1 1 Zeynep Tümer
00117210 26154720-FamPatIII7 PubMed: Begemann 2015, for EUCID-SRS consortium - F - Germany - - 0 - - SRS;RSS - IGF2 IGF2 1 1 Zeynep Tümer
00117211 26154720-FamPatIIV1 PubMed: Begemann 2015, for EUCID-SRS consortium - F - Germany - - 0 - - SRS;RSS - IGF2 IGF2 1 1 Zeynep Tümer
00117212 28515796-Pat1 PubMed: Inoue 2017, for EUCID-SRS consortium - - - Japan - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00117213 28515796-Pat4 PubMed: Inoue 2017, for EUCID-SRS consortium - - - Japan - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00117214 28515796-Pat5 PubMed: Inoue 2017, for EUCID-SRS consortium - - - Japan - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00117215 28515796-Pat3 PubMed: Inoue 2017, for EUCID-SRS consortium - - - Japan - - 0 - - SRS;RSS - - - 1 1 Zeynep Tümer
00117216 27701793-Pat1 PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00117217 27701793-Pat2 PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00117218 27701793-Fam PubMed: Abi Habib 2017, for EUCID-SRS consortium familial case - - - - - 0 - - SRS;RSS - - - 2 1 Zeynep Tümer
00117219 25427884-FamAPat1 PubMed: Nakashima 2015, for EUCID-SRS consortium 2-generation family, 2 affecteds, case 1 - - Japan - - 0 - - SRS;RSS - - - 4 2 Zeynep Tümer
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