| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.7%) |
23610053 |
Recurrent pericarditis in Myhre syndrome. Picco P, Naselli A, Pala G, Marsciani A, Buoncompagni A, Martini A. Am J Med Genet A. 2013;161A(5):1164-6. |
| Short philtrum Brachydactyly Short palpebral fissure | ||
| Arthropathy Child Congenital Hand Deformities Cryptorchidism Facies Growth Disorders Homo sapiens Hypertrophy Intellectual Disability Interleukin 1 Receptor Antagonist Protein Male Pericarditis Smad4 Protein | ||
| 2 (56.4%) |
27562837 |
Natural history and life-threatening complications in Myhre syndrome and review of the literature. Garavelli L, Maini I, Baccilieri F, Ivanovski I, Pollazzon M, Rosato S, Iughetti L, Unger S, Superti-Furga A, Tartaglia M. Eur J Pediatr. 2016;175(10):1307-15. |
| Brachydactyly Short palpebral fissure | ||
| SMAD4 | ||
| rs281875322 rs397518413 | ||
| Brachydactyly Child Congenital Hand Deformities Cryptorchidism Facies Fingers Growth Disorders Homo sapiens Intellectual Disability Male Missense Mutation Nails, Malformed Pericarditis Phenotype Retrospective Studies Smad4 Protein | ||
| 3 (51.2%) |
8261650 |
The Myhre syndrome: report of two cases. Garcia-Cruz D, Figuera LE, Feria-Velazco A, Sanchez-Corona J, Garcia-Cruz MO, Ramirez-Duenas RM, Hernandez-Cordova A, Ruiz MX, Bitar-Alatorre WE, Ramirez-Duenas ML, et al.. Clin Genet. 1993;44(4):203-7. |
| Blepharophimosis Broad ribs Hypoplastic iliac wing | ||
| Adult Body Height Bone and Bones Child Deafness Differential Diagnosis Family Homo sapiens Intellectual Disability Male Muscular Dystrophy Mutation Syndrome | ||
| 4 (41.7%) |
25252769 |
Myhre syndrome: a rare craniofacial disorder. Ishibashi N, Sasaki Y, Asakura Y. Cranio. 2014;32(4):300-6. |
| Narrow palate Thickened calvaria | ||
| SMAD4 | ||
| Child Congenital Hand Deformities Cryptorchidism Facies Females Growth Disorders Homo sapiens Intellectual Disability Japan Phenotype | ||
| 5 (30.8%) |
15057124 |
Second female case of Myhre syndrome. Lopez-Cardona MG, Garcia-Cruz D, Garcia-Ortiz JE, Davalos NO, Feria-Velasco A, Rodriguez-Rojas LX, Garcia-Cruz MO, Figuera-Villanueva LE, Stephens A, Larios-Arceo F, Sanchez-Corona J. Clin Dysmorphol. 2004;13(2):91-4. |
| Blepharophimosis | ||
| Body Height Bone and Bones Child, Preschool Congenital Heart Defects Face Females Genetic Diseases, X-Linked Homo sapiens Myopathy | ||
| 5 (30.8%) |
11568925 |
Case of Myhre syndrome with autism and peculiar skin histological findings. Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AV, Santoro L, Sebastio G. Am J Med Genet. 2001;103(2):163-5. |
| Blepharophimosis | ||
| Autistic Disorder Craniofacial Abnormalities Cytogenetic Analysis Growth Disorders Homo sapiens Intellectual Disability Male Myopathy Skin Abnormalities Syndrome | ||
| 7 (21.2%) |
27302097 |
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Am J Med Genet A. 2016;170(10):2617-31. |
| Hypertension Arthropathy | ||
| BMP1 SMAD4 TGFB1 | ||
| rs281875322 | ||
| Adult Cardiovascular Abnormalities Child Congenital Hand Deformities Cryptorchidism Echocardiography Exons Facies Females Fluorescent in Situ Hybridization Genetic Association Studies Growth Disorders High-Throughput Nucleotide Sequencing Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Mutation Phenotype Smad4 Protein Ultrasonography X-Ray Computed Tomography Young Adult | ||
| 7 (21.2%) |
26636501 |
Severe constipation in a patient with Myhre syndrome: a case report. Bassett JK, Douzgou S, Kerr B. Clin Dysmorphol. 2016;25(2):54-7. |
| Laryngeal stenosis Arthropathy | ||
| SMAD4 | ||
| rs281875322 | ||
| Congenital Hand Deformities Constipation Cryptorchidism Facies Females Growth Disorders Homo sapiens Infant Intellectual Disability Mutation Phenotype Smad4 Protein | ||
| 7 (21.2%) |
22711472 |
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation. Asakura Y, Muroya K, Sato T, Kurosawa K, Nishimura G, Adachi M. Am J Med Genet A. 2012;158A(8):1982-6. |
| Cryptorchidism Skeletal dysplasia | ||
| SMAD4 | ||
| p|SUB|I|500|T;RS#:281875321 | ||
| Arthropathy Child Congenital Hand Deformities Cryptorchidism Facies Females Growth Disorders Heterozygote Homo sapiens Hypertrophy Intellectual Disability Mutation Smad4 Protein | ||
| 7 (21.2%) |
21816239 |
Clinical features and respiratory complications in Myhre syndrome. McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng WT, Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J. Eur J Med Genet. 2011;54(6):e553-9. |
| Thickened skin Arthropathy | ||
| Adult Arthropathy Congenital Hand Deformities Cryptorchidism DNA Mutational Analysis Differential Diagnosis Facies Females Growth Disorders Homo sapiens Hypercalcemia Hypertrophy Intellectual Disability Laryngostenosis Male Metabolic Diseases Nephrocalcinosis Prognathism Respiratory System Skin Abnormalities Tracheal Stenosis United Kingdom |
Total: 47
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000233 | Thin vermilion border | Very frequent (99-80%) |
| HP:0000303 | Mandibular prognathia | Very frequent (99-80%) |
| HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0003172 | Abnormality of the pubic bone | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0003712 | Skeletal muscle hypertrophy | Very frequent (99-80%) |
| HP:0004279 | Short palm | Very frequent (99-80%) |
| HP:0004493 | Craniofacial hyperostosis | Very frequent (99-80%) |
| HP:0008818 | Large iliac wings | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000159 | Abnormal lip morphology | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000581 | Blepharophimosis | Frequent (79-30%) |
| HP:0000822 | Hypertension | Frequent (79-30%) |
| HP:0000944 | Abnormality of the metaphysis | Frequent (79-30%) |
| HP:0001072 | Thickened skin | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0003457 | EMG abnormality | Frequent (79-30%) |
| HP:0005930 | Abnormality of epiphysis morphology | Frequent (79-30%) |
| HP:0008499 | High hypermetropia | Frequent (79-30%) |
| HP:0012745 | Short palpebral fissure | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000036 | Abnormality of the penis | Occasional (29-5%) |
| HP:0000039 | Epispadias | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000135 | Hypogonadism | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000176 | Submucous cleft hard palate | Occasional (29-5%) |
| HP:0000193 | Bifid uvula | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000708 | Behavioral abnormality | Occasional (29-5%) |
| HP:0000826 | Precocious puberty | Occasional (29-5%) |
| HP:0003241 | External genital hypoplasia | Occasional (29-5%) |
| HP:0030690 | Gingival cleft | Occasional (29-5%) |
| HP:0100333 | Unilateral cleft lip | Occasional (29-5%) |
| HP:0100541 | Femoral hernia | Occasional (29-5%) |
Total: 16
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004322 | Short stature | 7 |
| HP:0000581 | Blepharophimosis | 2 |
| HP:0001701 | Pericarditis | 2 |
| HP:0003040 | Arthropathy | 2 |
| HP:0003720 | Generalized muscle hypertrophy | 2 |
| HP:0000322 | Short philtrum | 1 |
| HP:0000717 | Autism | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001602 | Laryngeal stenosis | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0002019 | Constipation | 1 |
| HP:0002202 | Pleural effusion | 1 |
| HP:0004894 | Laryngotracheal stenosis | 1 |
| HP:0012745 | Short palpebral fissure | 1 |
| HP:0030053 | Stiff skin | 1 |