| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 16 (21.2%) |
1939519 |
Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. Cutler DL, Kaufmann S, Freidenberg GR. J Clin Endocrinol Metab. 1991;73(5):1056-61. |
| Diabetes mellitus Osteolysis | ||
| INS | ||
| Blood Glucose Complications of Diabetes Mellitus Diabetes Mellitus Energy Metabolism Homo sapiens Hormones Insulin Insulin Resistance Lipids Lipodystrophy Male Mandibulofacial Dysostosis Normal Range Syndrome | ||
| 16 (21.2%) |
1736653 |
Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. Freidenberg GR, Cutler DL, Jones MC, Hall B, Mier RJ, Culler F, Jones KL, Lozzio C, Kaufmann S. Am J Dis Child. 1992;146(1):93-9. |
| Diabetes mellitus Flexion contracture | ||
| INS INSR | ||
| Adult Contracture Diabetes Mellitus Homo sapiens Insulin Insulin Resistance Joints Lipodystrophy Male Mandible Skin Syndrome Triglycerides | ||
| 23 (20.4%) |
18796515 |
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. Agarwal AK, Kazachkova I, Ten S, Garg A. J Clin Endocrinol Metab. 2008;93(12):4617-23. |
| Joint stiffness | ||
| LMNA ZMPSTE24 | ||
| c|SUB|C|1579|T;RS#:57318642 p|SUB|R|527|C;RS#:57318642 rs57318642 | ||
| Amino Acid Substitution Anthropometry Cell Nucleus Child Congenital Hand Deformities DNA Mutational Analysis Females Fibroblasts Homo sapiens Insulin Lamin Type A Lipodystrophy Mandible Microscopy, Fluorescence Mutation Progeria Skinfold Thickness Western Blotting | ||
| 24 (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 | ||
| 24 (17.5%) |
27100822 |
Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development. Ozer L, Unsal E, Aktuna S, Baltaci V, Celikkol P, Akyigit F, Sen A, Ayvaz O, Balci S. Clin Dysmorphol. 2016;25(3):91-7. |
| Cataract Lipodystrophy | ||
| LMNA | ||
| c|SUB|A|529|T;RS#:121912494 p|SUB|A|529|V;RS#:60580541 p|SUB|R|527|H;RS#:57520892 | ||
| Acro-Osteolysis Adult Amino Acid Substitution DNA Mutational Analysis Exons Females Homo sapiens Homozygote Lamin Type A Lipodystrophy Male Mandible Middle Aged Mutation Phenotype | ||
| 24 (17.5%) |
26602028 |
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A. Yassaee VR, Khojaste A, Hashemi-Gorji F, Ravesh Z, Toosi P. Gene. 2016;577(1):8-13. |
| Lipodystrophy | ||
| LMNA ZMPSTE24 | ||
| c|SUB|C|1698|T;RS#:4641 c|SUB|G|1620|A;RS#:483352811 p|SUB|M|540|I;RS#:483352811 rs4641 rs483352811 | ||
| Acro-Osteolysis Amino Acid Sequence Homo sapiens Homozygote Iran Lamin Type A Lipodystrophy Male Mandible Missense Mutation Molecular Sequence Data Phenotype Sequence Alignment Sequence Analysis, DNA | ||
| 24 (17.5%) |
20631028 |
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. Shastry S, Simha V, Godbole K, Sbraccia P, Melancon S, Yajnik CS, Novelli G, Kroiss M, Garg A. J Clin Endocrinol Metab. 2010;95(10):E192-7. |
| Male hypogonadism Generalized lipodystrophy | ||
| LMNA ZMPSTE24 | ||
| Adult Child Cryptorchidism DNA Mutational Analysis Deafness Females Homo sapiens Hypogonadism Lipodystrophy Male Mandible Middle Aged Progeria Syndrome Young Adult | ||
| 24 (17.5%) |
18435794 |
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. Miyoshi Y, Akagi M, Agarwal AK, Namba N, Kato-Nishimura K, Mohri I, Yamagata M, Nakajima S, Mushiake S, Shima M, Auchus RJ, Taniike M, Garg A, Ozono K. Clin Genet. 2008;73(6):535-44. |
| Lipodystrophy | ||
| LMNA ZMPSTE24 | ||
| c|SUB|C|121|T;RS#:121908094 c|SUB|C|743|T;RS#:121908095 p|SUB|P|248|L;RS#:121908095 p|SUB|Q|41|X;RS#:121908094 rs121908094 rs121908095 rs2076697 | ||
| Asians Child Child, Preschool DNA Mutational Analysis Females Genotype Homo sapiens Lamin Type A Lipodystrophy Mandible Membrane Proteins Metalloendopeptidases Missense Mutation Nuclear Proteins Phenotype Prenylation Protein Precursors Sibling | ||
| 24 (17.5%) |
17150192 |
Collagen expression in fibroblasts with a novel LMNA mutation. Nguyen D, Leistritz DF, Turner L, MacGregor D, Ohson K, Dancey P, Martin GM, Oshima J. Biochem Biophys Res Commun. 2007;352(3):603-8. |
| Lipodystrophy | ||
| LMNA | ||
| p|SUB|L|59|R;RS#:60652225|58922911 rs58922911 | ||
| Cockayne Syndrome Collagen Type III Cultured Cells Females Fibroblasts Genetic Predisposition to Disease Homo sapiens Lamin Type A Lipodystrophy Mutation | ||
| 24 (17.5%) |
15998779 |
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK. J Clin Endocrinol Metab. 2005;90(9):5259-64. |
| Lipodystrophy | ||
| LMNA ZMPSTE24 | ||
| c|SUB|C|1586|T;RS#:60580541 p|SUB|A|529|V;RS#:60580541 p|SUB|R|527|H;RS#:57520892 rs12117552 rs60580541 | ||
| Bone and Bones Breast Craniofacial Abnormalities DNA Mutational Analysis Females Growth Disorders Haplotypes Homo sapiens Homozygote Lamin Type A Lamins Male Missense Mutation Mutation Phenotype Single Nucleotide Polymorphism |
Total: 34
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000293 | Full cheeks | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000460 | Narrow nose | Very frequent (99-80%) |
| HP:0000468 | Increased adipose tissue around the neck | Very frequent (99-80%) |
| HP:0000842 | Hyperinsulinemia | Very frequent (99-80%) |
| HP:0000855 | Insulin resistance | Very frequent (99-80%) |
| HP:0000963 | Thin skin | Very frequent (99-80%) |
| HP:0001000 | Abnormality of skin pigmentation | Very frequent (99-80%) |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | Very frequent (99-80%) |
| HP:0005781 | Contractures of the large joints | Very frequent (99-80%) |
| HP:0100578 | Lipoatrophy | Very frequent (99-80%) |
| HP:0000270 | Delayed cranial suture closure | Frequent (79-30%) |
| HP:0000678 | Dental crowding | Frequent (79-30%) |
| HP:0000685 | Hypoplasia of teeth | Frequent (79-30%) |
| HP:0000831 | Insulin-resistant diabetes mellitus | Frequent (79-30%) |
| HP:0000833 | obsolete Glucose intolerance | Frequent (79-30%) |
| HP:0000894 | Short clavicles | Frequent (79-30%) |
| HP:0000956 | Acanthosis nigricans | Frequent (79-30%) |
| HP:0001090 | Abnormally large globe | Frequent (79-30%) |
| HP:0001596 | Alopecia | Frequent (79-30%) |
| HP:0001804 | Hypoplastic fingernail | Frequent (79-30%) |
| HP:0001870 | Acroosteolysis of distal phalanges (feet) | Frequent (79-30%) |
| HP:0002155 | Hypertriglyceridemia | Frequent (79-30%) |
| HP:0003124 | Hypercholesterolemia | Frequent (79-30%) |
| HP:0003809 | Reduced intrathoracic adipose tissue | Frequent (79-30%) |
| HP:0008070 | Sparse hair | Frequent (79-30%) |
| HP:0008897 | Postnatal growth retardation | Frequent (79-30%) |
| HP:0008993 | Increased intraabdominal fat | Frequent (79-30%) |
| HP:0009003 | Increased subcutaneous truncal adipose tissue | Frequent (79-30%) |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | Frequent (79-30%) |
| HP:0011334 | Facial shape deformation | Frequent (79-30%) |
| HP:0030781 | Increased circulating free fatty acid level | Frequent (79-30%) |
| HP:0030809 | Abnormal tongue morphology | Frequent (79-30%) |
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0009125 | Lipodystrophy | 12 |
| HP:0002797 | Osteolysis | 5 |
| HP:0000819 | Diabetes mellitus | 2 |
| HP:0000270 | Delayed cranial suture closure | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0001029 | Poikiloderma | 1 |
| HP:0001070 | Mottled pigmentation | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0003040 | Arthropathy | 1 |
| HP:0008070 | Sparse hair | 1 |
| HP:0009064 | Generalized lipodystrophy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|