Disease #03028 (LGSS (Legius syndrome (LGSS)), OMIM:611431)

Official abbreviation LGSS
Name Legius syndrome (LGSS)
OMIM ID 611431
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 204
Phenotype entries for this disease 204
Associated with 1 gene SPRED1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

204 entries on 3 pages. Showing entries 1 - 100.
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00205875 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / bilateral inguinal freckling / acrocyanosis SPRED1 SPRED1 1 1 Ludwine Messiaen
00205876 - PubMed: Spencer 2011 phenotype of affected parent and sibling of the proband described in {PMID21548021:Spencer 2011} F - - - - - - - LGSS 6 CALM / posteriorly rotated ears / ptosis left eye / no freckling / normal speech and motor development SPRED1 SPRED1 1 1 Ludwine Messiaen
00205877 - PubMed: Pasmant 2009 phenotype of affected parent and 2 siblings of the proband described in PubMed: Pasmant 2009 - - - - - - - - LGSS 20 CALM / bilateral axillary and inguinal freckling / learning disability: dyslexia / dysgraphia / attention deficit / cephalalgia SPRED1 SPRED1 1 1 Ludwine Messiaen
00205878 - PubMed: Messiaen 2009 phenotype of affected parent of the proband described in PubMed: Messiaen 2009 M - - - - - - - LGSS >6 CALM / no freckling / hyperactive SPRED1 SPRED1 1 1 Ludwine Messiaen
00205879 - PubMed: Messiaen 2009 phenotype of affected parent of the proband described in PubMed: Messiaen 2009 F - - - - - - - LGSS >6 CALM / axillary and inguinal freckling / clinodactyly 5th finger SPRED1 SPRED1 1 1 Ludwine Messiaen
00205880 - Pasmant, Paris - M - - - - - - - LGSS >6 CALMs larger than 5 mm diameter / some inguinal lentigines / normal cognitive development SPRED1 SPRED1 1 1 Ludwine Messiaen
00205881 - Messiaen UAB, unpublished - M - - - - - - - LGSS >6 CALMs / faint L axillary freckling / 1R axillary freckle / family history unknown SPRED1 SPRED1 1 1 Ludwine Messiaen
00205889 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / bilateral axillary freckling / familial SPRED1 SPRED1 1 1 Ludwine Messiaen
00205891 - PubMed: Spencer 2011 phenotype of affected parent of the proband described in {PMID21548021:Spencer 2011} F - - - - - - - LGSS >6 CALM / bilateral axillary and inguinal freckling / ADHD SPRED1 SPRED1 1 1 Ludwine Messiaen
00205892 - Van Minkelen, Erasmus U, Rotterdam - M - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205893 - Messiaen UAB, unpublished - M - - - - - - - LGSS 20typical CALMs / possible Noonan phenotype with coarse features and short stature SPRED1 SPRED1 1 1 Ludwine Messiaen
00205895 - PubMed: Pasmant 2009 phenotype of affected parent and 1 sibling of the proband described in PubMed: Pasmant 2009 M - - - - - - - LGSS 13 CALM / no freckling / monoblastic acute leukemia / learning disability SPRED1 SPRED1 1 1 Ludwine Messiaen
00205896 - PubMed: Messiaen 2009 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205897 - PubMed: Spurlock 2009 phenotype of affected child of proband described in PubMed: Spurlock 2009 F - - - - - - - LGSS CALM present / punctate dots in right groin SPRED1 SPRED1 1 1 Ludwine Messiaen
00205898 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / R inguinal freckling / hypertelorism SPRED1 SPRED1 1 1 Ludwine Messiaen
00205899 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / bilateral inguinal and axillary freckling / ADD / unknown family history SPRED1 SPRED1 1 1 Ludwine Messiaen
00205900 - PubMed: Spencer 2011 - F - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205901 - Wimmer, MUI - F - - - - - - - LGSS multiple CALMs and macrocephaly SPRED1 SPRED1 1 1 Ludwine Messiaen
00205902 - PubMed: Pasmant 2014 phenotype of affected parent and 1 sibling of the proband described in PubMed: Pasmant 2009; no additional second somatic mutation found in the tumor cells of the proband - - - - - - - - LGSS >5 CALs SPRED1 SPRED1 1 1 Beatrice Parfait
00205903 - PubMed: Pasmant 2014 phenotype of affected parent and 1 sibling of the proband described in PubMed: Pasmant 2009; no additional second somatic mutation found in the tumor cells of the proband - - - - - - - - LGSS >5 CALs and Learning disabilities SPRED1 SPRED1 1 1 Beatrice Parfait
00205904 - PubMed: Pasmant 2014 phenotype of affected parent and 1 sibling of the proband described in PubMed: Pasmant 2009; no additional second somatic mutation found in the tumor cells of the proband - - - - - - - - LGSS > 5 CALs SPRED1 SPRED1 1 1 Beatrice Parfait
00205906 - PubMed: Messiaen 2009 - M - - - - - - - LGSS 22 CALM / thoracic freckling / speech delay / meatal stenosis / hypertelorism / mild hearing loss Lear / low posterior hairline / mild pterygium colli / pectus carinatum/excavatum / motor and language delay / ADHD SPRED1 SPRED1 1 1 Ludwine Messiaen
00205907 - PubMed: Messiaen 2009 - M - - - - - - - LGSS >6 CALMs / 2 freckles in R axilla SPRED1 SPRED1 1 1 Ludwine Messiaen
00205908 - PubMed: Muram-Zborovski 2010 - M - - - - - - - LGSS 10-20 CALM / subtle axillary and inguinal freckling / learning disabilities requiring intervention SPRED1 SPRED1 1 1 Ludwine Messiaen
00205909 - PubMed: Denayer 2011a - F - - - - - - - LGSS >5 CALM / inguinal freckling / hypertelorism / dyslexia / congenital hypothyroidism SPRED1 SPRED1 1 1 Ludwine Messiaen
00205910 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / freckling R neck / learning disability SPRED1 SPRED1 1 1 Ludwine Messiaen
00205911 - PubMed: Spencer 2011 - F - - - - - - - LGSS >6 CALMs / bilateral inguinal and axillary freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205912 - Brems et al, 2012 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205913 - Brems et al, 2012 - F - - - - - - - LGSS >6 CALMs / freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205914 - PubMed: Messiaen 2009 unknown (father unavailable) F - - - - - - - LGSS 14 CALM / 1 CALM in left axilla / hyperactive / mild pectus excavatum / mild retrognatia / simple ears SPRED1 SPRED1 1 1 Ludwine Messiaen
00205915 - PubMed: Brems 2007 phenotype of 6 affected relatives is debribed in PubMed: Brems 2007 M - - - - - - - LGSS no CALM / no freckling / multiple lipomas SPRED1 SPRED1 2 1 Ludwine Messiaen
00205916 - PubMed: Messiaen 2009 - F - - - - - - - LGSS 14 CALM / no freckling / hyperactive SPRED1 SPRED1 1 1 Ludwine Messiaen
00205917 - PubMed: Messiaen 2009 phenotype of 2 affected siblings of the proband described in PubMed: Messiaen 2009 F - - - - - - - LGSS >6 CALM / bilateral axillary freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205918 - PubMed: Denayer 2011a phenotype of affected child of the proband described in {PMID21089071:Denayer 2011a} M - - - - - - - LGSS >5 CALM / no freckling / generalized epilepsy since age 39-y / Parkinson disease since age 45-y SPRED1 SPRED1 1 1 Ludwine Messiaen
00205919 - PubMed: Spencer 2011 - F - - - - - - - LGSS >6 CALMs / adopted SPRED1 SPRED1 1 1 Ludwine Messiaen
00205920 - PubMed: Spencer 2011 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205921 - PubMed: Spencer 2011 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205922 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / left inguinal freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205923 - PubMed: Pasmant 2014 - - - - - - - - - LGSS > 5 CALs SPRED1 SPRED1 2 1 Beatrice Parfait
00205924 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / familial SPRED1 SPRED1 1 1 Ludwine Messiaen
00205927 - PubMed: Spencer 2011 - F - - - - - - - LGSS >6 CALMs / bilateral axillary and inguinal freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205930 - Messiaen UAB, unpublished - M - - - - - - - LGSS 8 CALMs / mild thoracic scoliosis / abnormal development with heart murmur / possible Noonan phenotype with short stature and midface hypoplasia. Familial SPRED1 SPRED1 1 1 Ludwine Messiaen
00205931 - PubMed: Denayer 2011a - M - - - - - - - LGSS >5 CALMs / no freckling / hypertelorism / downslanting palpebral fissues / ptosis / low implanted postriorly rotated ears SPRED1 SPRED1 1 1 Ludwine Messiaen
00205932 - PubMed: Denayer 2011a - M - - - - - - - LGSS multiple CALMs SPRED1 SPRED1 1 1 Ludwine Messiaen
00205933 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / bilateral axillary and inguinal freckling / learning disability / unknown FH SPRED1 SPRED1 1 1 Ludwine Messiaen
00205934 - Messiaen UAB, unpublished - M - - - - - - - LGSS >6 CALMs / bilateral axillary freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205935 - Messiaen UAB, unpublished - M - - - - - - - LGSS >6 CAL-spots SPRED1 SPRED1 1 1 Ludwine Messiaen
00205937 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs SPRED1 SPRED1 1 1 Ludwine Messiaen
00205939 - PubMed: Spurlock 2009 phenotype of affected son and 2 grandchildren of proband described in PubMed: Spurlock 2009 dbSNP: rs121434318 M - - - - - - - LGSS CALM present / freckling present / macrocephaly SPRED1 SPRED1 1 1 Ludwine Messiaen
00205940 - Brems et al, 2012 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205941 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 typical CALMsmild bilateral inguinal freckling / minimal bil ax freckling / 1 subcutaneous lump on R torso / LD (psychiatric disease) SPRED1 SPRED1 1 1 Ludwine Messiaen
00205942 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 typical CALMs / BI&A / familial SPRED1 SPRED1 1 1 Ludwine Messiaen
00205943 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 typical CALMs. Father and paternal grandmother reported to have multiple CALMs SPRED1 SPRED1 1 1 Ludwine Messiaen
00205944 - PubMed: Brems 2007 - - - - - - - - - LGSS >6 CALM / no freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205945 - PubMed: Pasmant 2009 ; phenotype of 4 affected first- and second-degree relatives of proband described in PubMed: Pasmant 2009 M - - - - - - - LGSS 11 CALM / bilateral axillary and inguinal freckling / cephalgia SPRED1 SPRED1 1 1 Ludwine Messiaen
00205946 - PubMed: Denayer 2011a phenotype of affected son of proband described in {PMID21089071:Denayer 2011a} F - - - - - - - LGSS >5 CALM / no freckling / 5 spontaneous abortions / 1 still birth at 6m pregnancy / unilateral postaxial polydactyly foot SPRED1 SPRED1 1 1 Ludwine Messiaen
00205947 - PubMed: Denayer 2011a - M - - - - - - - LGSS >5 CALM / axillary and inguinal freckling / hypertelorism / pectus excavatum / delayed motor milestones / non-verbal learning disorder SPRED1 SPRED1 1 1 Ludwine Messiaen
00205948 - Messiaen UAB, unpublished - M - - - - - - - LGSS >6 CALMs / no freckling / normal development SPRED1 SPRED1 1 1 Ludwine Messiaen
00205949 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / abnormal development / learning difficulties SPRED1 SPRED1 1 1 Ludwine Messiaen
00205950 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 typical CALMs / BI&A / familial SPRED1 SPRED1 1 1 Ludwine Messiaen
00205951 - Wimmer, MUI - M - - - - - - - LGSS multiple CALMs SPRED1 SPRED1 1 1 Ludwine Messiaen
00205953 - PubMed: Spurlock 2009 phenotype of affected child of proband described in PubMed: Spurlock 2009 M - - - - - - - LGSS CALM present / no freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205954 - PubMed: Messiaen 2009 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205955 - Messiaen UAB, unpublished - M - - - - - - - LGSS 6 irregular CALMs and BI&A freckling / familial SPRED1 SPRED1 1 1 Ludwine Messiaen
00205956 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs SPRED1 SPRED1 1 1 Ludwine Messiaen
00205957 - PubMed: Messiaen 2009 - M - - - - - - - LGSS >15 CALM / 1 in left axilla and 1 in right inguinal region / pectus excavatum SPRED1 SPRED1 1 1 Ludwine Messiaen
00205958 - Pasmant, Paris - M - - - - - - - LGSS numerous CALMs / axillary and inguinal freckling; mutation also present in mother with numerous CALMs SPRED1 SPRED1 1 1 Ludwine Messiaen
00205959 - Brems et al, 2012 - M - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205961 - PubMed: Messiaen 2009 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205963 - Messiaen UAB, unpublished - M - - - - - - - LGSS also found in the proband's mother with 1 hyperpigmented region on the abdomen SPRED1 SPRED1 1 1 Ludwine Messiaen
00205964 - Messiaen UAB, unpublished - F - - - - - - - LGSS 7 CALMs family history unknwon SPRED1 SPRED1 1 1 Ludwine Messiaen
00205965 - Brems et al, 2012 - F - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205966 - Pasmant, Paris - M - - - - - - - LGSS >6 CALMs larger than 15mm diameter / axillary freckling / normal cognitive development / no scoliosis. Mother and older brother have multiple CALMs but no molecular testing available SPRED1 SPRED1 1 1 Ludwine Messiaen
00205967 - PubMed: Denayer 2011a - F - - - - - - - LGSS >5 CALM / unknown status for freckling / learning difficulties / desmoid tumor abdominal wall SPRED1 SPRED1 1 1 Ludwine Messiaen
00205968 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / freckling on L side of neck SPRED1 SPRED1 1 1 Ludwine Messiaen
00205969 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALs / L inguinal and axillary freckling. sporadic SPRED1 SPRED1 1 1 Ludwine Messiaen
00205970 - PubMed: Spencer 2011 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205971 - Brems et al, 2012 - M - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205972 - PubMed: Messiaen 2009 phenotype of affected parent of the proband described in PubMed: Messiaen 2009 M - - - - - - - LGSS >6 CALM / bilateral inguinal freckling / 2-3 freckles in left axilla / large right temporal venous anomaly in brain / progressive dystonia of unexplained etiology SPRED1 SPRED1 1 1 Ludwine Messiaen
00205973 - PubMed: Spencer 2011 - F - - - - - - - LGSS >6 CALMs / mother with multiple CALMs also carries this mutation SPRED1 SPRED1 1 1 Ludwine Messiaen
00205974 - PubMed: Spencer 2011 - F - - - - - - - LGSS >6 CALMs / right inguinal freckling. SPRED1 SPRED1 1 1 Ludwine Messiaen
00205975 - PubMed: Messiaen 2009 phenotype of 2 affected relatives of the proband described in PubMed: Messiaen 2009 M - - - - - - - LGSS >6 CALM / bilateral axillary and inguinal freckling / freckling right neck / macrocephaly SPRED1 SPRED1 1 1 Ludwine Messiaen
00205976 - PubMed: Messiaen 2009 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205977 - PubMed: Denayer 2011a phenotype of affected daughter and granddaughter of the proband described in {PMID21089071:Denayer 2011a} F - - - - - - - LGSS no CALM / no freckling / low implanted ears / prooptosis / coarse facial features SPRED1 SPRED1 1 1 Ludwine Messiaen
00205978 - Brems et al, 2012 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205979 - PubMed: Spencer 2011 - F - - - - - - - LGSS >6 CALMs / bilateral inguinal and axillary freckling / scoliosis SPRED1 SPRED1 1 1 Ludwine Messiaen
00205980 - PubMed: Pasmant 2014 - - - - - - - - - LGSS > 5 CALs and Lentigines SPRED1 SPRED1 1 1 Beatrice Parfait
00205981 - Messiaen UAB, unpublished - F - - - - - - - LGSS multiple CALMs / ADD / area of telangiectasia over right thigh and LD / FH?? SPRED1 SPRED1 1 1 Ludwine Messiaen
00205982 - Messiaen UAB, unpublished also carries p.Ile116Asn M - - - - - - - LGSS >6 CALMs / fading mongolian spot; 35-yo father >6 CALMs and bilateral inguinal freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205983 - PubMed: Brems 2007 phenotype of 20 affected relatives of the proband described in PubMed: Brems 2007 M - - - - - - - LGSS >6 CALM, mild freckling, macrocephaly, 3 lipomas SPRED1 SPRED1 1 1 Ludwine Messiaen
00205984 - PubMed: Brems 2007 phenotype of 1 affected child of the proband described in PubMed: Brems 2007 M - - - - - - - LGSS 39-y, 7 CALM, 1 freckle, Noonan-like face, loose integument, 2 lipomas SPRED1 SPRED1 1 1 Ludwine Messiaen
00205985 - PubMed: Messiaen 2009 - - - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205986 - PubMed: Denayer 2011a phenotype of 3 affected relatives of the proband described in {PMID21089071:Denayer 2011a} F - - - - - - - LGSS 39-y, >5 CALM, no freckling, mild synophris, normal development, migraine, some skintags in neck and face SPRED1 SPRED1 1 1 Ludwine Messiaen
00205987 - PubMed: Laycock-van Spyk 2011 - M - - - - - - - LGSS several small CALM / mild axillary freckling SPRED1 SPRED1 1 1 Ludwine Messiaen
00205988 - Brems et al, 2012 - M - - - - - - - LGSS >6 CALMs SPRED1 SPRED1 1 1 Ludwine Messiaen
00205989 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / 1 axillary freckle SPRED1 SPRED1 1 1 Ludwine Messiaen
00205990 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / bilateral inguinal and axillary freckling / mother CALMs only SPRED1 SPRED1 1 1 Ludwine Messiaen
00205991 - Messiaen, UAB - M - - - - - - - LGSS >6 CALMs SPRED1 SPRED1 1 1 Ludwine Messiaen
00205992 - Van Minkelen, Erasmus U, Rotterdam phenotype of 20 affected relatives of the proband described in PubMed: Brems 2007 M - - - - - - - LGSS - SPRED1 SPRED1 1 1 Ludwine Messiaen
00205993 - PubMed: Pasmant 2014 phenotype of 20 affected relatives of the proband described in PubMed: Brems 2007 - - - - - - - - LGSS > 5 CALs and Developmental delay SPRED1 SPRED1 1 1 Beatrice Parfait
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