eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital fiber type disproportion | ||||
| Disease ID | 557 |
|---|---|
| Disease | congenital fiber type disproportion |
| Definition | A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur. |
| Synonym | cftd cftdm congen fiber type disproportion congenital fiber type disproportion myopathy congenital fiber type disproportion myopathy (disorder) congenital fiber-type disproportion congenital fiber-type disproportion myopathy congenital fiber-type disproportions congenital fibre type disproportion myopathy congenital myopathy with fiber type disproportion congenital myopathy with fiber type disproportion (disorder) congenital myopathy with fibre type disproportion disproportion, congenital fiber-type disproportions, congenital fiber-type fiber type disproportion fiber type disproportion myopathy, congenital fiber-type disproportion fiber-type disproportion myopathy, congenital fiber-type disproportion, congenital fiber-type disproportions, congenital myopathy, congenital, with fiber-type disproportion |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0546264 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 58 | ACTA1 | 5.412 | DISEASES 27063 | ANKRD1 | 3.225 | DISEASES 23607 | CD2AP | 1.604 | DISEASES 1756 | DMD | 1.991 | DISEASES 8291 | DYSF | 2.131 | DISEASES 2010 | EMD | 2.061 | DISEASES 2596 | GAP43 | 3.013 | DISEASES 3679 | ITGA7 | 3.46 | DISEASES 3908 | LAMA2 | 2.169 | DISEASES 4000 | LMNA | 1.613 | DISEASES 79104 | MEG8 | 2.368 | DISEASES 4534 | MTM1 | 2.328 | DISEASES 4625 | MYH7 | 3.064 | DISEASES 4703 | NEB | 4.248 | DISEASES 6261 | RYR1 | 3.629 | DISEASES 6444 | SGCD | 2.433 | DISEASES 7135 | TNNI1 | 3.672 | DISEASES 7138 | TNNT1 | 3.231 | DISEASES 7169 | TPM2 | 5.442 | DISEASES 7170 | TPM3 | 5.982 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 557 |
|---|---|
| Disease | congenital fiber type disproportion |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0001612 | Weak cry HP:0000275 | Decreased width of face HP:0000602 | Ophthalmoplegia HP:0001374 | Congenital hip dislocation HP:0002938 | Exaggerated lumbar lordosis HP:0000276 | Long face HP:0001283 | Bulbar palsies HP:0003324 | Muscle weakness, diffuse HP:0011968 | Feeding difficulties HP:0002747 | Respiratory distress due to muscle weakness HP:0003701 | Proximal limb muscle weakness HP:0000218 | Increased palatal height HP:0002650 | Scoliosis HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers HP:0001508 | Weight faltering HP:0002015 | Swallowing difficulty HP:0001644 | Congestive cardiomyopathy HP:0001558 | Decreased fetal movement HP:0003121 | Limb joint contracture HP:0002093 | progressive respiratory failure HP:0000508 | Drooping upper eyelid HP:0001319 | Hypotonia, in neonatal onset HP:0010628 | Facial palsy, unilateral or bilateral HP:0003687 | Central nuclei |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 557 |
|---|---|
| Disease | congenital fiber type disproportion |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:30) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs111364670 | NA | 6261 | RYR1 | umls:C0546264 | CLINVAR | NA | 0.240542884 | NA | RYR1 | 19 | 38510566 | G | A,T |
| rs118192117 | NA | 6261 | RYR1 | umls:C0546264 | CLINVAR | NA | 0.240542884 | NA | RYR1 | 19 | 38451846 | T | C |
| rs121908188 | NA | 57190 | SEPN1 | umls:C0546264 | CLINVAR | NA | 0.241085767 | NA | SEPN1 | 1 | 25809753 | G | A |
| rs121909529 | NA | 58 | ACTA1 | umls:C0546264 | CLINVAR | NA | 0.481357209 | NA | ACTA1 | 1 | 229431830 | T | A |
| rs121909530 | NA | 58 | ACTA1 | umls:C0546264 | CLINVAR | NA | 0.481357209 | NA | ACTA1 | 1 | 229432134 | A | G |
| rs121909531 | NA | 58 | ACTA1 | umls:C0546264 | CLINVAR | NA | 0.481357209 | NA | ACTA1 | 1 | 229431633 | G | A |
| rs121964852 | NA | 7170 | TPM3 | umls:C0546264 | CLINVAR | NA | 0.361085767 | NA | TPM3 | 1 | 154172971 | C | T |
| rs121964853 | NA | 7170 | TPM3 | umls:C0546264 | CLINVAR | NA | 0.361085767 | NA | TPM3 | 1 | 154176194 | G | T |
| rs121964854 | 23924754 | 7170 | TPM3 | umls:C0546264 | BeFree | Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap structures were analyzed in a child with p.Arg168Gly mutation in TPM3 gene. | 0.361085767 | 2013 | TPM3 | 1 | 154172972 | G | C,A |
| rs121964854 | NA | 7170 | TPM3 | umls:C0546264 | CLINVAR | NA | 0.361085767 | NA | TPM3 | 1 | 154172972 | G | C,A |
| rs143849895 | NA | 6261 | RYR1 | umls:C0546264 | CLINVAR | NA | 0.240542884 | NA | RYR1 | 19 | 38566953 | G | A,T |
| rs199474711 | NA | 7170 | TPM3 | umls:C0546264 | CLINVAR | NA | 0.361085767 | NA | TPM3 | 1 | 154192008 | G | A |
| rs199474713 | NA | 7170 | TPM3 | umls:C0546264 | CLINVAR | NA | 0.361085767 | NA | TPM3 | 1 | 154176220 | C | G |
| rs199474715 | NA | 7170 | TPM3 | umls:C0546264 | CLINVAR | NA | 0.361085767 | NA | TPM3 | 1 | 154172969 | T | C |
| rs199474717 | NA | 7170 | TPM3 | umls:C0546264 | CLINVAR | NA | 0.361085767 | NA | TPM3 | 1 | 154170454 | C | T |
| rs199474718 | NA | 7170 | TPM3 | umls:C0546264 | CLINVAR | NA | 0.361085767 | NA | TPM3 | 1 | 154170442 | T | C |
| rs367543048 | NA | 58 | ACTA1 | umls:C0546264 | CLINVAR | NA | 0.481357209 | NA | ACTA1 | 1 | 229433100 | C | T,A |
| rs367543049 | NA | 58 | ACTA1 | umls:C0546264 | CLINVAR | NA | 0.481357209 | NA | ACTA1 | 1 | 229432867 | C | T |
| rs367543050 | NA | 58 | ACTA1 | umls:C0546264 | CLINVAR | NA | 0.481357209 | NA | ACTA1 | 1 | 229432181 | C | G |
| rs367543051 | NA | 58 | ACTA1 | umls:C0546264 | CLINVAR | NA | 0.481357209 | NA | ACTA1 | 1 | 229432075 | C | T |
| rs367543053 | NA | 4625 | MYH7 | umls:C0546264 | CLINVAR | NA | 0.120542884 | NA | MYH7 | 14 | 23412855 | T | C |
| rs367543054 | NA | 6261 | RYR1 | umls:C0546264 | CLINVAR | NA | 0.240542884 | NA | RYR1 | 19 | 38446706 | T | G |
| rs367543055 | NA | 6261 | RYR1 | umls:C0546264 | CLINVAR | NA | 0.240542884 | NA | RYR1 | 19 | 38485988 | C | A,T |
| rs367543056 | NA | 6261 | RYR1 | umls:C0546264 | CLINVAR | NA | 0.240542884 | NA | RYR1 | 19 | 38490709 | A | T |
| rs367543057 | NA | 6261 | RYR1 | umls:C0546264 | CLINVAR | NA | 0.240542884 | NA | RYR1 | 19 | 38517651 | C | A |
| rs367543058 | NA | 6261 | RYR1 | umls:C0546264 | CLINVAR | NA | 0.240542884 | NA | RYR1 | 19 | 38519399 | T | G |
| rs368104077 | NA | 57190 | SEPN1 | umls:C0546264 | CLINVAR | NA | 0.241085767 | NA | SEPN1 | 1 | 25808755 | - | A,C |
| rs397516248 | 25576864 | 4625 | MYH7 | umls:C0546264 | BeFree | We describe three members of a family with an autosomal dominant mutation in the distal rod of MYH7 [c.5401G> A (p.Glu1801Lys)] displaying a complex phenotype characterized by Laing Distal Myopathy like phenotype, left ventricular non compaction cardiomyopathy and Fiber Type Disproportion picture at muscle biopsy. | 0.120542884 | 2014 | MYH7;MHRT | 14 | 23415153 | C | T |
| rs794727808 | NA | 57190 | SEPN1 | umls:C0546264 | CLINVAR | NA | 0.241085767 | NA | SEPN1 | 1 | 25809152 | T | C |
| rs797045950 | NA | 57190 | SEPN1 | umls:C0546264 | CLINVAR | NA | 0.241085767 | NA | SEPN1 | 1 | 25809107 | - | CCT |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001319 | Neonatal hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000276 | Long face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0003701 | Proximal muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0003324 | Generalized muscle weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | MP:0009409 | abnormal skeletal muscle fiber type ratio | deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0003687 | Centrally nucleated skeletal muscle fibers | MP:0013239 | impaired skeletal muscle regeneration | reduced ability to repair skeletal muscle after injury or disease |
| HP:0001644 | Dilated cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0001558 | Decreased fetal movement | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001612 | Weak cry | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0001283 | Bulbar palsy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000602 | Ophthalmoplegia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000275 | Narrow face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000276 | Long face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001319 | Neonatal hypotonia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0011968 | Feeding difficulties | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001374 | Congenital hip dislocation | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0003324 | Generalized muscle weakness | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0003121 | Limb joint contracture | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0003701 | Proximal muscle weakness | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001644 | Dilated cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002938 | Lumbar hyperlordosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001558 | Decreased fetal movement | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003687 | Centrally nucleated skeletal muscle fibers | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | MP:0012107 | enhanced exercise endurance | improved performance during controlled physical activity |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 557 |
|---|---|
| Disease | congenital fiber type disproportion |
| Case | (Waiting for update.) |