| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (39.0%) |
27410998 |
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B. Haye D, Dridi H, Levy J, Lambert V, Lambert M, Agha M, Adjimi F, Kohlhase J, Lipsker D, Verloes A. Am J Med Genet A. 2016;170(10):2750-5. |
| Wormian bones | ||
| LMNA ZMPSTE24 | ||
| c|SUB|A|1196|G p|SUB|Y|399|C | ||
| Biopsy Bone and Bones Child Craniofacial Abnormalities Facies Genetic Association Studies Homo sapiens Homozygote Lipodystrophy Male Membrane Proteins Metalloendopeptidases Mutation Osteogenesis Phenotype Skin X-Ray Computed Tomography | ||
| 11 (39.0%) |
7593806 |
Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma. Fryburg JS, Sidhu-Malik N. J Am Acad Dermatol. 1995;33(5 Pt 2):900-2. |
| Delayed cranial suture closure | ||
| Adult Contracture Differential Diagnosis Exophthalmos Females Fingers Follow-Up Studies Homo sapiens Male Mandible Nuclear Family Osteoarthropathy, Secondary Hypertrophic Pigmentation Disorders Syndrome | ||
| 11 (39.0%) |
7317281 |
Familial mandibuloacral dysplasia. Zina AM, Cravario A, Bundino S. Br J Dermatol. 1981;105(6):719-23. |
| Delayed cranial suture closure | ||
| Adult Alopecia Females Homo sapiens Mandible Middle Aged Syndrome | ||
| 14 (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 | ||
| 14 (35.3%) |
17848409 |
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G. J Clin Endocrinol Metab. 2007;92(11):4467-71. |
| Bird-like facies Generalized hypotonia | ||
| CBX1 LMNA | ||
| p|SUB|R|527|H;RS#:57520892 p|SUB|V|440|M;RS#:121912493 rs121912493 rs57520892 | ||
| Adult Alleles Bone Diseases, Developmental Craniofacial Abnormalities Cultured Cells DNA Mutational Analysis DNA, Complementary Electron Microscopy Females Fibroblasts Fluorescent Antibody Technique Heterozygote Homo sapiens Lamin Type A Lipodystrophy Mutation Phenotype Transfection Western Blotting | ||
| 16 (21.2%) |
25286833 (4287574) |
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China. Luo DQ, Wang XZ, Meng Y, He DY, Chen YM, Ke ZY, Yan M, Huang Y, Chen DF. BMC Pediatr. 2014;14:256. |
| Osteolysis | ||
| BANF1 LMNA ZMPSTE24 | ||
| c|SUB|C|1579|T;RS#:57318642 p|SUB|R|527|C rs57318642 | ||
| Acro-Osteolysis Asians Child Child, Preschool China Females Homo sapiens Homozygote Infant Lamin Type A Lipodystrophy Male Mandible Mutation Osteolysis Progeria Rare Diseases Sibling | ||
| 16 (21.2%) |
23804595 (3824411) |
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. Starke S, Meinke P, Camozzi D, Mattioli E, Pfaeffle R, Siekmeyer M, Hirsch W, Horn LC, Paasch U, Mitter D, Lattanzi G, Wehnert M, Kiess W. Aging (Albany NY). 2013;5(6):445-59. |
| Hypotension Osteolysis | ||
| LMNA TP53BP1 ZMPSTE24 | ||
| c|SUB|C|1303|T;RS#:150840924 p|SUB|R|435|C;RS#:150840924 rs150840924 | ||
| Cockayne Syndrome DNA Repair Fatal Outcome Females Homo sapiens Infant Lamin Type A Mutation Skin Abnormalities | ||
| 16 (21.2%) |
20550970 |
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. Cunningham VJ, D'Apice MR, Licata N, Novelli G, Cundy T. Bone. 2010;47(3):591-7. |
| Osteoporosis | ||
| LMNA ZMPSTE24 | ||
| p|FS|Y|70|| p|SUB|N|256|S rs281875362 rs281875371 | ||
| Animals Bone and Bones DNA Mutational Analysis Dysostoses Homo sapiens Lamin Type A Male Membrane Proteins Metalloendopeptidases Mutation Phenotype Skeleton | ||
| 16 (21.2%) |
17935239 |
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y. Am J Med Genet A. 2007;143A(21):2598-603. |
| Osteolysis | ||
| c|SUB|A|529|T;RS#:121912494 c|SUB|G|1585|A;RS#:121912494 p|SUB|A|529|T;RS#:121912494 rs121912494 | ||
| Females Homo sapiens Homozygote Lamin Type A Mandible Middle Aged Missense Mutation | ||
| 16 (21.2%) |
17152860 |
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. Agarwal AK, Zhou XJ, Hall RK, Nicholls K, Bankier A, Van Esch H, Fryns JP, Garg A. J Investig Med. 2006;54(4):208-13. |
| Focal segmental glomerulosclerosis Osteolysis | ||
| LMNA ZMPSTE24 | ||
| p|SUB|F|361,379|X p|SUB|N|265|S;RS#:281875371 rs137854889 rs281875371 | ||
| Acro-Osteolysis Adult Amino Acid Sequence Craniofacial Abnormalities DNA Mutational Analysis Fatal Outcome Females Homo sapiens Lipoproteins Male Mandible Membrane Proteins Metalloendopeptidases Metalloproteases Missense Mutation Molecular Sequence Data Saccharomyces cerevisiae Sequence Alignment |
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 |
|---|