Disease #01523 (HGPS (syndrome, Hutchinson-Gilford progeria (HGPS)), OMIM:176670)

Official abbreviation HGPS
Name syndrome, Hutchinson-Gilford progeria (HGPS)
OMIM ID 176670
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 51
Phenotype entries for this disease 51
Associated with 1 gene LMNA
Associated tissues -
Disease features -
Remarks -


Individuals

51 entries on 1 page. Showing entries 1 - 51.
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00146475 Pat1 PubMed: Denecke 2006 - M yes Turkey - - 0 - - HGPS - ZMPSTE24 LMNA, ZMPSTE24 2 1 Johan den Dunnen
00165042 7 van Tienen, submitted - M no Netherlands - >03y 0 - - HGPS - LMNA LMNA 2 1 Florence van Tienen
00165054 9 van Tienen, submitted - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Florence van Tienen
00216231 - PubMed: Delgado-Luengo, PubMed: Eriksson, OMIM:var0022 cell line suggested to contain deletion rescuing deleterious change - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216232 - PubMed: De Sandre-Giovannoli, OMIM:var0022 - - - - - - 0 - - HGPS one patient's lymphocyte RNA analysed contained transcripts from the mutated allele only LMNA LMNA 1 2 Johan den Dunnen
00216233 - Wuyts, ASHG2004, P2691 inherited from mother, mosaic carrier - - Belgium - >5m 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216234 - PubMed: Fukuchi 2004 - M no Japan - 45y 0 - - HGPS mild; extraordinarily long-lived (>45y); 0d-normal: 1y-large head; 12y-growth; retardation; childhood loosing hair, 20y-total alopecia; 44y-height 132 cm, weight 24.5 kg, all characteristic; features HGPS; 45y-died myocardial infarction LMNA LMNA 1 1 Johan den Dunnen
00216241 - PubMed: Caux, OMIM:var0027 - M - France - - 0 - - HGPS phenotype generalized acquired lipoatrophy with insulin-resistant diabetes, hypertriglyceridemia, hepatic steatosis, hypertrophic cardiomyopathy with valvular involvement, disseminated whitish papules LMNA LMNA 1 1 Johan den Dunnen
00216268 - PubMed: Verstraeten 2006 - M - Netherlands - >2y 0 - - HGPS - LMNA LMNA 2 1 Johan den Dunnen
00216282 - PubMed: Plasilova, OMIM:var0033 autosomal recessive inheritance F;M - India - 16y 0 - - HGPS - LMNA LMNA 2 5 Johan den Dunnen
00216370 - PubMed: Eriksson 2003, PubMed: Moulson 2007, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216427 - - - - - United States - - 0 - - HGPS - LMNA LMNA 1 1 Soma Das
00216447 - PubMed: Eriksson, OMIM:var0024 - - - - - - 0 - - HGPS atypical clinical features, incl. persisting coarse hair, ample subcutaneous tissue arms and legs, severe strokes beginning at age 4 LMNA LMNA 1 1 Johan den Dunnen
00216449 - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0023 - F - United States white 6y 0 - - HGPS typical HGPS, mandibular hypoplasia LMNA LMNA 1 1 Johan den Dunnen
00216472 1 - - - - United States - - 0 - - HGPS - LMNA LMNA 1 1 Soma Das
00216473 1 PubMed: Kirschner 2005, OMIM:var0034 - F - Germany - - 0 - - HGPS combined phenotype of progeria and myopathy LMNA LMNA 1 1 Janbernd Kirschner
00216482 - Babovich ESHG2006 P0236 - M - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216508 - PubMed: Moulson 2007 - M - United States white 3y6m 0 - - HGPS unusually severe progeria (details see paper) LMNA LMNA 1 1 Johan den Dunnen
00216509 - PubMed: Moulson 2007 - M - Italy - 26d 0 - - HGPS unusually severe progeria (details see paper) LMNA LMNA 1 1 Johan den Dunnen
00216510 - PubMed: Reddel 2004, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216511 - PubMed: Reddel 2004, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216512 - PubMed: Eriksson 2003, PubMed: Moulson 2007, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216513 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216514 - PubMed: Eriksson 2003, PubMed: Moulson 2007, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216515 - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - M - United States white 13y 0 - - HGPS typical HGPS LMNA LMNA 1 1 Johan den Dunnen
00216516 - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - M - United States white 10y 0 - - HGPS typical HGPS, scleroderma LMNA LMNA 1 1 Johan den Dunnen
00216517 - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - F - United States white 10y 0 - - HGPS typical HGPS, mild type 2 diabetes LMNA LMNA 1 1 Johan den Dunnen
00216518 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216519 - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - M - United States white 5y 0 - - HGPS typical HGPS LMNA LMNA 1 1 Johan den Dunnen
00216520 - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - M - United States white 9y 0 - - HGPS typical HGPS, arthritis, angina LMNA LMNA 1 1 Johan den Dunnen
00216521 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216522 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216523 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216524 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216525 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216526 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216527 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216528 - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - 0 - - HGPS - LMNA LMNA 1 1 Johan den Dunnen
00216538 - - - - - (United States) - - 0 - - HGPS - LMNA LMNA 1 1 Tom Winder
00216620 - - - F - Brazil - - 0 - - HGPS - LMNA LMNA 1 1 Tom Winder
00216649 - - - M - United States white - 0 - - HGPS primary ectodermal dysplasia, absent hair, small for age; no intellectual disability (-HP:0001249) LMNA LMNA 1 1 Tom Winder
00216705 - - - - - (United States) - - 0 - - HGPS - LMNA LMNA 1 1 Tom Winder
00216706 - - - - - (United States) - - 0 - - HGPS - LMNA LMNA 1 1 Tom Winder
00216761 22419169-PatN PubMed: Reunert 2012 - M no Germany - 84d 0 - - HGPS see paper LMNA LMNA 7 1 Johan den Dunnen
00216848 - from website {DBsub-Emory} - M - France European 35y 0 - - HGPS mild progeria, with a very evocative facial dysmorphism, brittle nails, generalized lipoatrophy, ectopic calcifications, ; thin and transparent skin with highly visible veins and hypo/hyperpigmented areas; hepatic steatosis, disseminated arteriosclerosis and aortic stenosis LMNA LMNA 1 1 Florian Barthelemy
00216849 - - - M - Greece - 17y 0 - - HGPS progeria-like features with growth retardation, atrophic skin, no hair in the chest, pubic or axillary area, alopecia and absent eyebrows/ eyelashes, patchy hypo/hyper-pigmented areas,generalized amyotrophy and lipoatrophy, distal osteolyses and cardiovascular disseminated arteriosclerosis with severe mitral and aortic valve calcification; low HDL-cholesterol; normal psychomotor development LMNA LMNA 1 1 Florian Barthelemy
00216850 - - - F - United Kingdom (Great Britain) - - 0 - - HGPS mild progeria-like phenotype, with failure to thrive, suggestive facial dysmorphism with thin and scattered, prematurely gray hair, thin and dry skin with visible veins, muscle pseudohypertrophy and reduced body hair. Hyper/hypo-pigmented areas on her neck and upper thorax, normal menses but no breast development; 20y calcification of the aortic valve with mild regurgitation; low bone mass density; increased triglycerides and LDL-cholesterol with low HDL levels LMNA LMNA 1 1 Florian Barthelemy
00216851 - PubMed: Hisama 2011 2-generation family, index case M no United States Germany;Ireland 39y 0 - - HGPS progeroid appearance with alopecia, sparse eyebrows, and patchy skin hyperpigmentation and hypopigmentation. He suffered of osteopenia, type II diabetes mellitus, hypertension, hyperlipidemia and peripheral vascular disease with claudication. He underwent triple bypass surgery and aortic valve replacement due to aortic stenosis. LMNA LMNA 1 1 Florian Barthelemy
00216852 - - Polish and German ancestry F - - Polish;German 48y 0 - - HGPS short stature, overall progeroid appearance, sclerodermatous atrophic skin, premature graying and loss of hair and dystrophic nails. Secondary sexual characteristics were under-developed with absent breast tissue and sparse axillary and pubic hair. She was treated for hyperlipidemia and hypertension. She had significant coronary artery disease, aortic calcification and mitral valve prolapse. She did not have ocular cataracts, but had otosclerosis. LMNA LMNA 1 1 Florian Barthelemy
00216853 - PubMed: Hisama 2011, Barthelemy et al (unpublished) 2-generation family, sister of FamPatII2 F no United States Germany; Ireland >32y 0 - - HGPS short stature and prematurely aged appearance incl. hypercholesterolemia (with no peripheral vascular disease or diabetes), loss of subcutaneous tissue, beaked nose and a thin face, sparse fine hair with patchy hypopigmentation over entire body LMNA LMNA 1 1 Florian Barthelemy
00216854 - PubMed: Hisama 2011, Barthelemy et al (unpublished) 2-generation family, mother of FamPatII2 F no United States Germany; Ireland >61y 0 - - HGPS short stature (147 cm at 59 years); 36y-hysterectomy, musculoskeletal problems including non-congenital hip dysplasia; back operations for ruptured discs; chest tightness and dyspnea in; her 30s; 40y-bones were osteoporotic; 54y-myocardial infarctions with multivessel bypass surgery; 56y-diabetes; no particular facial appearance LMNA LMNA 1 1 Florian Barthelemy
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