| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (42.7%) |
19283854 |
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF. Am J Med Genet A. 2009;149A(4):567-72. |
| Retrognathia | ||
| LMNA | ||
| c|SUB|T|176|G;RS#:60652225|58922911 p|SUB|A|57|P;RS#:28928903 p|SUB|L|59|R;RS#:60652225|58922911 rs1553262007 rs28928903 rs57077886 rs57830985 rs58922911 | ||
| Amino Acid Substitution Cardiomyopathy, Dilated Females Genotype Heterozygote Homo sapiens Lamin Type A Lipodystrophy Missense Mutation Ovarian Failure, Premature Phenotype Syndrome Werner Syndrome | ||
| 2 (35.3%) |
22991222 |
An inherited LMNA gene mutation in atypical Progeria syndrome. Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Levy N, Sefiani A. Am J Med Genet A. 2012;158A(11):2881-7. |
| Prominent nose Lipodystrophy | ||
| LMNA | ||
| c|SUB|C|1824|T;RS#:58596362 c|SUB|G|412|A;RS#:267607649 p|SUB|E|138|K;RS#:267607649 | ||
| Base Sequence Child Exons Fatal Outcome Females Heterozygote Homo sapiens Lamin Type A Mutation Phenotype Progeria | ||
| 3 (17.5%) |
31270292 |
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. He G, Yan Z, Sun L, Lv Y, Guo W, Gang X, Wang G. Endocr J. 2019;:. |
| Diabetes mellitus Lipoatrophy | ||
| Diabetes Mellitus Females Homo sapiens Hypogonadism Lamin Type A Werner Syndrome Young Adult | ||
| 3 (17.5%) |
30123186 (6085819) |
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA. Yanhua X, Suxian Z. Front Endocrinol (Lausanne). 2018;9:433. |
| Stroke Lipoatrophy | ||
| LMNA WRN | ||
| c|SUB|G|898|C p|SUB|D|300|H | ||
| 3 (17.5%) |
29610677 (5870259) |
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. Sahinoz M, Khairi S, Cuttitta A, Brady GF, Rupani A, Meral R, Tayeh MK, Thomas P, Riebschleger M, Camelo-Piragua S, Innis JW, Bishr Omary M, Michele DE, Oral EA. Clin Diabetes Endocrinol. 2018;4:6. |
| Muscle weakness | ||
| LMNA | ||
| c|SUB|C|29|T;RS#:57077886 p|SUB|T|10|I;RS#:57077886 | ||
| 3 (17.5%) |
29267953 |
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis JW, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A. J Clin Endocrinol Metab. 2018;103(3):1005-1014. |
| Diabetes mellitus Generalized lipodystrophy | ||
| INS LMNA | ||
| p|SUB|T|10|I;RS#:57077886 | ||
| Absorptiometry, Photon Adult Anthropometry Child Females Homo sapiens Lamin Type A Magnetic Resonance Imaging Male Middle Aged Mutation Myocardium Phenotype Progeria | ||
| 3 (17.5%) |
29199204 |
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. Sasaki H, Yanagi K, Ugi S, Kobayashi K, Ohkubo K, Tajiri Y, Maegawa H, Kashiwagi A, Kaname T. Endocr J. 2018;65(2):227-238. |
| Lipodystrophy | ||
| POLD1 | ||
| p|DEL|605| | ||
| DNA Polymerase III Deafness Delayed Diagnosis Differential Diagnosis Females Homo sapiens Japan Lipodystrophy Mandible Micrognathism Middle Aged Mutation Progeria Syndrome | ||
| 3 (17.5%) |
27265359 |
A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy. Guo X, Ling C, Liu Y, Zhang X, Zhang S. Can J Cardiol. 2016;32(9):1166.e29-31. |
| Cardiomyopathy Lipodystrophy | ||
| LMNA | ||
| c|SUB|C|175|CG p|SUB|L|59|V | ||
| Asians Cardiomyopathy, Dilated China Exons Females Heterozygote Homo sapiens Lamin Type A Lipodystrophy Mutation Progeria Young Adult | ||
| 3 (17.5%) |
26122271 |
Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome. Lee S, Park SM, Kim HJ, Kim JW, Yu DS, Lee YB. J Dermatol. 2015;42(12):1149-52. |
| Diabetes mellitus Generalized lipodystrophy | ||
| LMNA | ||
| p|SUB|D|136|H;RS#:267607619 | ||
| Adult Females High-Throughput Nucleotide Sequencing Homo sapiens Lamin Type A Mutation Point Mutation Progeria Sequence Analysis, DNA Sibling South Korea | ||
| 3 (17.5%) |
25327215 |
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. Motegi S, Yokoyama Y, Uchiyama A, Ogino S, Takeuchi Y, Yamada K, Hattori T, Hashizume H, Ishikawa Y, Goto M, Ishikawa O. J Dermatol. 2014;41(12):1047-52. |
| Cataract Lipoatrophy | ||
| p|SUB|D|300|N;RS#:267607591 | ||
| Adult DNA Mutational Analysis Fibroblasts Homo sapiens Japan Lamin Type A Male RecQ Helicases Werner Syndrome Werner Syndrome Helicase |
Total: 90
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000035 | Abnormal testis morphology | Very frequent (99-80%) |
| HP:0000135 | Hypogonadism | Very frequent (99-80%) |
| HP:0000144 | Decreased fertility | Very frequent (99-80%) |
| HP:0000233 | Thin vermilion border | Very frequent (99-80%) |
| HP:0000275 | Narrow face | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000444 | Convex nasal ridge | Very frequent (99-80%) |
| HP:0000765 | Abnormality of the thorax | Very frequent (99-80%) |
| HP:0000819 | Diabetes mellitus | Very frequent (99-80%) |
| HP:0000822 | Hypertension | Very frequent (99-80%) |
| HP:0000823 | Delayed puberty | Very frequent (99-80%) |
| HP:0000831 | Insulin-resistant diabetes mellitus | Very frequent (99-80%) |
| HP:0000842 | Hyperinsulinemia | Very frequent (99-80%) |
| HP:0000869 | Secondary amenorrhea | Very frequent (99-80%) |
| HP:0000905 | Progressive clavicular acroosteolysis | Very frequent (99-80%) |
| HP:0000934 | Chondrocalcinosis | Very frequent (99-80%) |
| HP:0000939 | Osteoporosis | Very frequent (99-80%) |
| HP:0000962 | Hyperkeratosis | Very frequent (99-80%) |
| HP:0000963 | Thin skin | Very frequent (99-80%) |
| HP:0001015 | Prominent superficial veins | Very frequent (99-80%) |
| HP:0001376 | Limitation of joint mobility | Very frequent (99-80%) |
| HP:0001397 | Hepatic steatosis | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001595 | Abnormal hair morphology | Very frequent (99-80%) |
| HP:0001596 | Alopecia | Very frequent (99-80%) |
| HP:0001601 | Laryngomalacia | Very frequent (99-80%) |
| HP:0001608 | Abnormality of the voice | Very frequent (99-80%) |
| HP:0001635 | Congestive heart failure | Very frequent (99-80%) |
| HP:0001677 | Coronary artery atherosclerosis | Very frequent (99-80%) |
| HP:0001763 | Pes planus | Very frequent (99-80%) |
| HP:0001808 | Fragile nails | Very frequent (99-80%) |
| HP:0001838 | Rocker bottom foot | Very frequent (99-80%) |
| HP:0002155 | Hypertriglyceridemia | Very frequent (99-80%) |
| HP:0002211 | White forelock | Very frequent (99-80%) |
| HP:0002216 | Premature graying of hair | Very frequent (99-80%) |
| HP:0002231 | Sparse body hair | Very frequent (99-80%) |
| HP:0002669 | Osteosarcoma | Very frequent (99-80%) |
| HP:0003074 | Hyperglycemia | Very frequent (99-80%) |
| HP:0003076 | Glycosuria | Very frequent (99-80%) |
| HP:0003202 | Skeletal muscle atrophy | Very frequent (99-80%) |
| HP:0003777 | Pili torti | Very frequent (99-80%) |
| HP:0004054 | Sclerosis of hand bone | Very frequent (99-80%) |
| HP:0004279 | Short palm | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004325 | Decreased body weight | Very frequent (99-80%) |
| HP:0004349 | Reduced bone mineral density | Very frequent (99-80%) |
| HP:0004361 | Abnormality of circulating leptin level | Very frequent (99-80%) |
| HP:0004380 | Aortic valve calcification | Very frequent (99-80%) |
| HP:0004414 | Abnormality of the pulmonary artery | Very frequent (99-80%) |
| HP:0004950 | Peripheral arterial stenosis | Very frequent (99-80%) |
| HP:0005109 | Abnormality of the Achilles tendon | Very frequent (99-80%) |
| HP:0005177 | Premature arteriosclerosis | Very frequent (99-80%) |
| HP:0005328 | Progeroid facial appearance | Very frequent (99-80%) |
| HP:0005978 | Type II diabetes mellitus | Very frequent (99-80%) |
| HP:0007495 | Prematurely aged appearance | Very frequent (99-80%) |
| HP:0007509 | Patchy hypo- and hyperpigmentation | Very frequent (99-80%) |
| HP:0007618 | Subcutaneous calcification | Very frequent (99-80%) |
| HP:0007703 | Abnormality of retinal pigmentation | Very frequent (99-80%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Very frequent (99-80%) |
| HP:0008209 | Premature ovarian insufficiency | Very frequent (99-80%) |
| HP:0008283 | Fasting hyperinsulinemia | Very frequent (99-80%) |
| HP:0008981 | Calf muscle hypertrophy | Very frequent (99-80%) |
| HP:0009064 | Generalized lipodystrophy | Very frequent (99-80%) |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | Very frequent (99-80%) |
| HP:0010721 | Abnormal hair whorl | Very frequent (99-80%) |
| HP:0011362 | Abnormal hair quantity | Very frequent (99-80%) |
| HP:0100578 | Lipoatrophy | Very frequent (99-80%) |
| HP:0100585 | Telangiectasia of the skin | Very frequent (99-80%) |
| HP:0100659 | Abnormality of the cerebral vasculature | Very frequent (99-80%) |
| HP:0100679 | Lack of skin elasticity | Very frequent (99-80%) |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | Very frequent (99-80%) |
| HP:0200042 | Skin ulcer | Very frequent (99-80%) |
| HP:0000546 | Retinal degeneration | Frequent (79-30%) |
| HP:0001650 | Aortic valve stenosis | Frequent (79-30%) |
| HP:0002858 | Meningioma | Frequent (79-30%) |
| HP:0008069 | Neoplasm of the skin | Frequent (79-30%) |
| HP:0008419 | Intervertebral disc degeneration | Frequent (79-30%) |
| HP:0009726 | Renal neoplasm | Frequent (79-30%) |
| HP:0100013 | Neoplasm of the breast | Frequent (79-30%) |
| HP:0100031 | Neoplasm of the thyroid gland | Frequent (79-30%) |
| HP:0100526 | Neoplasm of the lung | Frequent (79-30%) |
| HP:0100615 | Ovarian neoplasm | Frequent (79-30%) |
| HP:0100649 | Neoplasm of the oral cavity | Frequent (79-30%) |
| HP:0100833 | Neoplasm of the small intestine | Frequent (79-30%) |
| HP:0000519 | Developmental cataract | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0001634 | Mitral valve prolapse | Occasional (29-5%) |
| HP:0003738 | Exercise-induced myalgia | Occasional (29-5%) |
| HP:0011001 | Increased bone mineral density | Occasional (29-5%) |
| HP:0040019 | Finger clinodactyly | Occasional (29-5%) |
Total: 5
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0009064 | Generalized lipodystrophy | 2 |
| HP:0009125 | Lipodystrophy | 2 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0002621 | Atherosclerosis | 1 |