| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (49.2%) |
29850346 (5925024) |
Same Phenotype in Children with Growth Hormone Deficiency and Resistance. Ioimo I, Guarracino C, Meazza C, Domene HM, Bozzola M. Case Rep Pediatr. 2018;2018:5902835. |
| Frontal bossing Acromicria | ||
| GH1 GHR IGF1 | ||
| 1 (49.2%) |
21815258 |
Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3--a novel syndrome. Gat-Yablonski G, Frumkin-Ben David R, Bar M, Potievsky O, Phillip M, Lazar L. Am J Med Genet A. 2011;155A(9):2242-6. |
| Frontal bossing Acromicria | ||
| CHMP2B GH1 IGF1 POU1F1 VGLL3 | ||
| Child Chromosome Deletion Chromosomes, Human, Pair 3 Endosomal Sorting Complexes Required for Transport Females Growth Hormone Homo sapiens Insulin-Like Growth Factor I Intellectual Disability Israel Laron Syndrome Liver Premature Birth Transcription Factor Pit-1 | ||
| 3 (40.2%) |
29025428 (5639735) |
Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report. Moia S, Tessaris D, Einaudi S, de Sanctis L, Bona G, Bellone S, Prodam F. Ital J Pediatr. 2017;43(1):94. |
| Frontal bossing | ||
| GHR IGF1 IGFBP3 | ||
| Child Child, Preschool Females Genetic Predisposition to Disease Growth Hormone Receptor Heterozygote Homo sapiens Italy Laron Syndrome Missense Mutation Severity of Illness Index | ||
| 4 (26.3%) |
8658300 |
Growth hormone receptor deficiency (Laron syndrome) in black African siblings. Hopp M, Rosenbloom AL, Griffiths J, Kgwete S, Vaccarello MA. S Afr Med J. 1996;86(3):268-70. |
| Micropenis Depressed nasal bridge | ||
| GHR IGF1 IGF2 IGFBP3 | ||
| Child Dwarfism Females Gene Deletion Growth Hormone Receptor Homo sapiens Insulin-Like Growth Factor I Male Radioimmunoassay South Africa Syndrome | ||
| 5 (23.3%) |
21840205 |
Anaesthetic management of a parturient with Laron syndrome. Bhatia K, Cockerham R. Int J Obstet Anesth. 2011;20(4):344-6. |
| Atlantoaxial instability | ||
| IGF1 | ||
| Adult Anesthesia, Obstetrical Epidural Anesthesia Females Homo sapiens Laron Syndrome Pregnancy Pregnancy Complications Spinal Anesthesia | ||
| 6 (21.2%) |
17728167 |
A novel growth hormone receptor gene deletion mutation in a patient with primary growth hormone insensitivity syndrome (Laron syndrome). Yamamoto H, Kouhara H, Iida K, Chihara K, Kasayama S. Growth Horm IGF Res. 2008;18(2):136-42. |
| Osteoporosis | ||
| BGLAP ENDOU GH1 GHR H3F3AP4 IGF1 | ||
| Bone Density Cultured Cells Cytogenetic Analysis DNA Mutational Analysis Females Gene Deletion Growth Hormone Receptor Homo sapiens Laron Syndrome Middle Aged Mutation | ||
| 7 (4.0%) |
29750649 |
Cardiac examination in children with Laron syndrome undergoing mecasermin therapy. Erol N, Yldz M, Guven A, Yldrm A. J Pediatr Endocrinol Metab. 2018;31(6):675-679. |
| Hypertension | ||
| GH1 IGF1 | ||
| Child Child, Preschool Echocardiography Females Heart Homo sapiens Infant Insulin-Like Growth Factor I Laron Syndrome Male Mitral Valve Insufficiency Recombinant Proteins | ||
| 7 (4.0%) |
29152285 (5676289) |
Mexican case report of a never-treated Laron syndrome patient evolving to metabolic syndrome, type 2 diabetes, and stroke. Castilla-Cortazar I, Femat-Roldan G, Rodriguez-Rivera J, Aguirre GA, Garcia-Magarino M, Martin-Estal I, Espinosa L, Diaz-Olachea C. Clin Case Rep. 2017;5(11):1852-1855. |
| Stroke | ||
| GH1 IGF1 | ||
| 7 (4.0%) |
29147569 (5682564) |
Growth hormone insensitivity: Mexican case report. Castilla-Cortazar I, De Ita JR, Aguirre GA, Garcia-Magarino M, Martin-Estal I, Lara-Diaz VJ, Elizondo MI. Endocrinol Diabetes Metab Case Rep. 2017;2017:. |
| Small for gestational age | ||
| 7 (4.0%) |
28502327 |
Fanconi Anemia and Laron Syndrome. Castilla-Cortazar I, de Ita JR, Aguirre GA, Castorena-Torres F, Ortiz-Urbina J, Garcia-Magarino M, de la Garza RG, Diaz Olachea C, Elizondo Leal MI. Am J Med Sci. 2017;353(5):425-432. |
| Short stature | ||
| GH1 IGF1 IGFBP3 | ||
| Body Height Fanconi Anemia Females Growth Hormone Receptor Homo sapiens Human Growth Hormone Insulin-Like Growth Factor Binding Protein 3 Insulin-Like Growth Factor I Laron Syndrome Mexico Signal Transduction Young Adult |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000684 | Delayed eruption of teeth | Very frequent (99-80%) |
| HP:0000691 | Microdontia | Very frequent (99-80%) |
| HP:0000818 | Abnormality of the endocrine system | Very frequent (99-80%) |
| HP:0001956 | Truncal obesity | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0005281 | Hypoplastic nasal bridge | Very frequent (99-80%) |
| HP:0009804 | Reduced number of teeth | Very frequent (99-80%) |
| HP:0009924 | Aplasia/Hypoplasia involving the nose | Very frequent (99-80%) |
| HP:0000823 | Delayed puberty | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001831 | Short toe | Frequent (79-30%) |
| HP:0001943 | Hypoglycemia | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0009811 | Abnormality of the elbow | Frequent (79-30%) |
| HP:0009891 | Underdeveloped supraorbital ridges | Frequent (79-30%) |
| HP:0000457 | Depressed nasal ridge | Occasional (29-5%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000929 | Abnormal skull morphology | Occasional (29-5%) |
| HP:0000966 | Hypohidrosis | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001620 | High pitched voice | Occasional (29-5%) |
| HP:0002758 | Osteoarthritis | Occasional (29-5%) |
| HP:0003124 | Hypercholesterolemia | Occasional (29-5%) |
| HP:0007495 | Prematurely aged appearance | Occasional (29-5%) |
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004322 | Short stature | 5 |
| HP:0000054 | Micropenis | 1 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000592 | Blue sclerae | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001943 | Hypoglycemia | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0003510 | Severe short stature | 1 |
| HP:0031878 | Acromicria | 1 |