| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.9%) |
19764019 |
Mandibuloacral dysplasia type A in childhood. Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G. Am J Med Genet A. 2009;149A(10):2258-64. |
| Round face Short distal phalanx of finger | ||
| LMNA | ||
| c|SUB|G|1580|A;RS#:57520892 p|SUB|R|527|H;RS#:57520892 rs1553262007 rs1553961516 rs1553961697 rs57077886 rs57520892 rs57830985 rs587784570 | ||
| Age of Onset Bone Diseases, Developmental Child, Preschool Craniofacial Abnormalities Females Homo sapiens Lipodystrophy Male Mandibular Diseases | ||
| 2 (60.5%) |
22549407 |
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M. Eur J Hum Genet. 2012;20(11):1134-40. |
| Micrognathia Dental crowding | ||
| LMNA | ||
| c|SUB|G|1580|T p|SUB|R|527|H;RS#:57520892 p|SUB|R|527|L | ||
| Child Child, Preschool Egypt Females Founder Effect Heterozygote Homo sapiens Lamin Type A Mandible Missense Mutation Progeria Protein Stability Syndrome | ||
| 3 (57.8%) |
20814950 (2965306) |
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Ahmad Z, Zackai E, Medne L, Garg A. Am J Med Genet A. 2010;152A(11):2703-10. |
| Micrognathia | ||
| LMNA ZMPSTE24 | ||
| p|SUB|P|248|L;RS#:121908095 p|SUB|W|450|X;RS#:281875376 rs121908095 rs281875376 | ||
| Age of Onset Child Child, Preschool Heterozygote Homo sapiens Infant Infant, Newborn Lamin Type A Lipodystrophy Male Mandible Membrane Proteins Metalloendopeptidases Mutation | ||
| 3 (57.8%) |
16440877 |
Mandibuloacral dysplasia: a report of two Egyptian cases. Afifi HH, El-Bassyouni HT. Genet Couns. 2005;16(4):353-62. |
| Micrognathia | ||
| INS | ||
| Acro-Osteolysis Child, Preschool Chromosome Mapping Disease Progression Egypt Females Homo sapiens Mandible Micrognathism Phenotype Skin | ||
| 3 (57.8%) |
16278265 |
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A. J Clin Endocrinol Metab. 2006;91(2):517-21. |
| Micrognathia | ||
| LMNA ZMPSTE24 | ||
| c|SUB|C|1718|T;RS#:60890628 p|SUB|S|573|L;RS#:60890628 rs60890628 | ||
| Adult Arthropathy Calcinosis Fatal Outcome Homo sapiens Lamin Type A Male Missense Mutation Syndrome Werner Syndrome | ||
| 3 (57.8%) |
15311567 |
A case of mandibuloacral dysplasia presenting with features of scleroderma. Cefle A, Cefle K. Int J Clin Pract. 2004;58(6):635-8. |
| Micrognathia | ||
| Acro-Osteolysis Child Facies Homo sapiens Male Mandible Systemic Scleroderma | ||
| 3 (57.8%) |
8957511 |
Lethal neonatal mandibuloacral dysplasia. Seftel MD, Wright CA, Po PL, de Ravel TJ. Am J Med Genet. 1996;66(1):52-4. |
| Micrognathia | ||
| Homo sapiens Hypospadias Infant, Newborn Male Mandible Syndrome | ||
| 3 (57.8%) |
1642279 |
A severe case of mandibuloacral dysplasia in a girl. Schrander-Stumpel C, Spaepen A, Fryns JP, Dumon J. Am J Med Genet. 1992;43(5):877-81. |
| Micrognathia | ||
| Bone Diseases, Developmental Differential Diagnosis Females Homo sapiens Mandible Syndrome Tarsal Bones | ||
| 9 (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 | ||
| 10 (42.3%) |
17103436 |
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Brondum-Nielsen K. Am J Med Genet A. 2006;140(24):2709-13. |
| Blepharophimosis Arthropathy | ||
| Acro-Osteolysis Adult Blepharophimosis Connective Tissue Corneal Neovascularization Craniofacial Abnormalities Differential Diagnosis Ectodermal Dysplasia Homo sapiens Male Oligospermia Syndactyly Syndrome |
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 |
|---|