| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (27.8%) |
9484111 |
Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. Baccetti T, Defraia E, Donati MA. J Clin Pediatr Dent. 1997;21(2):167-71. |
| Open bite | ||
| Child Craniofacial Abnormalities Dental Care for Chronically Ill Homo sapiens Male Malocclusion Myopathy Skeletal Myocytes | ||
| 2 (17.5%) |
12376748 |
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N. J Hum Genet. 2002;47(10):556-9. |
| Myopathy | ||
| Animal Disease Models Animals Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Congenital Structural Myopathy DNA-Binding Proteins Females Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Mice, Knockout Mus Proto-Oncogene Mas Proto-Oncogene Proteins Skeletal Myocytes Syndrome | ||
| 2 (17.5%) |
10844410 |
Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy). Vorwerk P, Christoffersen CT, Muller J, Vestergaard H, Pedersen O, De Meyts P. Horm Res. 1999;52(5):211-20. |
| Insulin resistance Myopathy | ||
| ACTA1 INSR | ||
| Alleles Alternative Splicing Base Sequence Child Congenital Structural Myopathy DNA Primers DNA, Complementary Exons Females Genetic Polymorphism Heterozygote Homo sapiens In Vitro Techniques Insulin Insulin Receptor Insulin Resistance Male Missense Mutation Mutagenesis, Site-Directed Phenotype Point Mutation Protein Tyrosine Kinase Syndrome Tertiary Protein Structure | ||
| 2 (17.5%) |
10073429 |
Cardiac manifestations of congenital fiber-type disproportion myopathy. Banwell BL, Becker LE, Jay V, Taylor GP, Vajsar J. J Child Neurol. 1999;14(2):83-7. |
| Congestive heart failure Myopathy | ||
| Biopsy Cardiomyopathy, Dilated Females Heart Transplantation Homo sapiens Infant Infant, Newborn Male Myopathies, Nemaline | ||
| 2 (17.5%) |
9695625 |
[A case of congenital myopathy with the pathologic transformation from fiber type disproportion to type 1 fiber predominance myopathy]. Shibata R, Kusakawa I, Ozawa M, Ohya T, Nonaka I. No To Hattatsu. 1998;30(4):307-11. |
| Myopathy | ||
| Biopsy Homo sapiens Infant Male Myopathy Skeletal Myocytes | ||
| 2 (17.5%) |
1524518 |
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. Torres CF, Moxley RT. Arch Neurol. 1992;49(8):855-6. |
| Ptosis Muscle weakness | ||
| Child Child, Preschool Females Homo sapiens Male Myopathy | ||
| 7 (4.0%) |
23005904 |
Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy. Nakamura K, Kato M, Sasaki A, Shiihara T, Hayasaka K. Pediatr Int. 2012;54(5):709-11. |
| Acute encephalopathy | ||
| Acute Disease Brain Diseases Congenital Structural Myopathy Females Homo sapiens Human respiratory syncytial virus Infant Respiration, Artificial Respiratory Syncytial Virus Infections Seizures | ||
| 7 (4.0%) |
16122635 |
Severe gastrointestinal dysmotility in a patient with congenital myopathy: causal relationship to decrease of interstitial cells of Cajal. Kubota M, Kanda E, Ida K, Sakakihara Y, Hayashi M. Brain Dev. 2005;27(6):447-50. |
| Gastrointestinal dysmotility | ||
| Child, Preschool Females Gastrointestinal Motility Homo sapiens Intestines, Small Myenteric Plexus Myopathy Severity of Illness Index |
Total: 43
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001315 | Reduced tendon reflexes | Very frequent (99-80%) |
| HP:0003198 | Myopathy | Very frequent (99-80%) |
| HP:0003324 | Generalized muscle weakness | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001388 | Joint laxity | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001558 | Decreased fetal movement | Frequent (79-30%) |
| HP:0001612 | Weak cry | Frequent (79-30%) |
| HP:0002033 | Poor suck | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002515 | Waddling gait | Frequent (79-30%) |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | Frequent (79-30%) |
| HP:0002792 | Reduced vital capacity | Frequent (79-30%) |
| HP:0003273 | Hip contracture | Frequent (79-30%) |
| HP:0003458 | EMG: myopathic abnormalities | Frequent (79-30%) |
| HP:0006466 | Ankle flexion contracture | Frequent (79-30%) |
| HP:0008180 | Mildly elevated creatine kinase | Frequent (79-30%) |
| HP:0010804 | Tented upper lip vermilion | Frequent (79-30%) |
| HP:0011807 | Type 1 muscle fiber atrophy | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0030192 | Fatigable weakness of bulbar muscles | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000602 | Ophthalmoplegia | Occasional (29-5%) |
| HP:0001374 | Congenital hip dislocation | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0002751 | Kyphoscoliosis | Occasional (29-5%) |
| HP:0002987 | Elbow flexion contracture | Occasional (29-5%) |
| HP:0003307 | Hyperlordosis | Occasional (29-5%) |
| HP:0003691 | Scapular winging | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0006380 | Knee flexion contracture | Occasional (29-5%) |
| HP:0008981 | Calf muscle hypertrophy | Occasional (29-5%) |
| HP:0012785 | Flexion contracture of finger | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Very rare (4-1%) |
| HP:0001249 | Intellectual disability | Very rare (4-1%) |
| HP:0001644 | Dilated cardiomyopathy | Very rare (4-1%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000855 | Insulin resistance | 1 |
| HP:0006846 | Acute encephalopathy | 1 |
| HP:0011950 | Bronchiolitis | 1 |
Total: 8
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| MAP3K20 | mitogen-activated protein kinase kinase kinase 20 | 51776 |
| ACTA1 | actin alpha 1, skeletal muscle | 58 |
| SELENON | selenoprotein N | 57190 |
| TPM2 | tropomyosin 2 | 7169 |
| TPM3 | tropomyosin 3 | 7170 |
| MYL2 | myosin light chain 2 | 4633 |
| ITGA7 | integrin subunit alpha 7 | 3679 |
| HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | 9200 |