Phenotypes for disease #01523 (HGPS (syndrome, Hutchinson-Gilford progeria (HGPS)), OMIM:176670)

51 entries on 1 page. Showing entries 1 - 51.
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Protein     

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Individual ID     
0000119216 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00146475
0000129915 - - - Familial, autosomal recessive - - - - - Florence van Tienen 00165042
0000129925 - - - Unknown - - - - - Florence van Tienen 00165054
0000164683 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216231
0000164684 one patient's lymphocyte RNA analysed contained transcripts from the mutated allele only Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - WB 25% normal lamin-A Johan den Dunnen 00216232
0000164685 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - 0y - - Johan den Dunnen 00216233
0000164686 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 Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216234
0000164693 phenotype generalized acquired lipoatrophy with insulin-resistant diabetes, hypertriglyceridemia, hepatic steatosis, hypertrophic cardiomyopathy with valvular involvement, disseminated whitish papules LDHCP - Unknown - - - - - Johan den Dunnen 00216241
0000164720 - Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216268
0000164734 - Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216282
0000164822 - Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216370
0000164879 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Soma Das 00216427
0000164899 atypical clinical features, incl. persisting coarse hair, ample subcutaneous tissue arms and legs, severe strokes beginning at age 4 Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216447
0000164901 typical HGPS, mandibular hypoplasia Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216449
0000164924 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Soma Das 00216472
0000164925 combined phenotype of progeria and myopathy progeria, syndrome, Hutchinson-Gilford (HGPS);MD HGPS Isolated (sporadic) - - 0y - - Janbernd Kirschner 00216473
0000164934 - progeria, syndrome, Hutchinson-Gilford (HGPS);MAD HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216482
0000164960 unusually severe progeria (details see paper) Hutchinson-Gilford progeria syndrome HGPS Unknown - - 0y - ratio progerin:LMNA 2.8 (0.9 for c.1824C>T) Johan den Dunnen 00216508
0000164961 unusually severe progeria (details see paper) Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - 0y - ratio progerin:LMNA 1.8 (0.9 for c.1824C>T) Johan den Dunnen 00216509
0000164962 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216510
0000164963 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216511
0000164964 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216512
0000164965 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216513
0000164966 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - ratio progerin:LMNA 0.9 Johan den Dunnen 00216514
0000164967 typical HGPS Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216515
0000164968 typical HGPS, scleroderma Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216516
0000164969 typical HGPS, mild type 2 diabetes Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216517
0000164970 - Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216518
0000164971 typical HGPS Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216519
0000164972 typical HGPS, arthritis, angina Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216520
0000164973 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216521
0000164974 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216522
0000164975 - Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216523
0000164976 - Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216524
0000164977 - Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216525
0000164978 - Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216526
0000164979 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216527
0000164980 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Johan den Dunnen 00216528
0000164990 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Tom Winder 00216538
0000165072 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Tom Winder 00216620
0000165101 primary ectodermal dysplasia, absent hair, small for age; no intellectual disability (-HP:0001249) progeria syndrome, atypical HGPS Unknown - - - - - Tom Winder 00216649
0000165157 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Tom Winder 00216705
0000165158 - Hutchinson-Gilford progeria syndrome HGPS Unknown - - - - - Tom Winder 00216706
0000165213 see paper Hutchinson-Gilford progeria syndrome HGPS Isolated (sporadic) - - - - - Johan den Dunnen 00216761
0000165300 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 progeria-like syndrome HGPS Unknown - 14y - - WB, IHC lamin A/C and progerin Florian Barthelemy 00216848
0000165301 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 Progeria-like syndrome HGPS Unknown - 12y - - IHC Florian Barthelemy 00216849
0000165302 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 progeria HGPS Unknown - 5y - - - Florian Barthelemy 00216850
0000165303 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. progeria-like syndrome HGPS Familial, autosomal dominant - 11y - short stature - Florian Barthelemy 00216851
0000165304 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. Progeria-like syndrome HGPS Unknown - - - - - Florian Barthelemy 00216852
0000165305 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 progeria-like syndrome HGPS Familial, autosomal dominant - - - - - Florian Barthelemy 00216853
0000165306 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 progeria-like syndrome HGPS Familial, autosomal dominant - - - - - Florian Barthelemy 00216854
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