DiseaseID 11153
杆状体肌病
disease
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.
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Disease: 1Experiment: 10Formula: 15Herb: 12Symptom: 12Target: 24Links: 73
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11153
- Core Entity Id
- 68498
- Source Entity Count
- 1
- Preferred Name
- Myopathies, Nemaline
- Name Cn
- 杆状体肌病
- Name Pinyin
- Gan Zhuang Ti Ji Bing
- Name En
- Myopathies, Nemaline
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesNervous System Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesMusculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Myopathies, Nemaline
Role
preferred
Name
Central Core Disease
Role
preferred
Name
Central Core Disease Of Muscle
Role
preferred
Name
Centronuclear Myopathy
Role
preferred
Name
Cnmdu1
Role
preferred
Name
Congenital Structural Myopathy
Role
preferred
Name
King Denborough Syndrome
Role
preferred
Name
Malignant Hyperthermia, Susceptibility To, 1
Role
preferred
Name
Minicore Myopathy, Moderate, With Hand Involvement
Role
preferred
Name
Multi-Core Congenital Myopathy
Role
preferred
Name
Multicore Myopathy, Moderate, With Hand Involvement
Role
preferred
Name
Multiminicore Disease, Moderate, With Hand Involvement
Role
preferred
Name
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Role
preferred
Name
Muscular Dystrophy, Congenital, Megaconial Type
Role
preferred
Name
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1
Role
preferred
Name
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 14
Role
preferred
Name
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2
Role
preferred
Name
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3
Role
preferred
Name
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4
Role
preferred
Name
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Role
preferred
Name
Myopathy, Centronuclear, 1
Role
preferred
Name
Myopathy, Centronuclear, X-Linked
Role
preferred
Name
Myopathy, Tubular Aggregate, 1
Role
preferred
Name
Myopathy, Tubular Aggregate, 2
Role
preferred
Name
Tubular Aggregate Myopathy
Role
preferred
Name
X-Linked Centronuclear Myopathy
Role
preferred
Name
Autosomal Dominant Myotubular Myopathy
Role
preferred
Name
Autosomal Recessive Centronuclear Myopathy
Role
preferred
Name
Central Core Myopathy (Disorder)
Role
preferred
Name
Congenital Fiber Type Disproportion
Role
preferred
Name
Congenital Fiber-Type Disproportion
Role
preferred
Name
Congenital Muscular Dystrophy Due To Lmna Mutation
Role
preferred
Name
Congenital Muscular Dystrophy Type 1A
Role
preferred
Name
Congenital Myopathy (Disorder)
Role
preferred
Name
Eichsfeld Type Congenital Muscular Dystrophy
Role
preferred
Name
MUSCULAR DYSTROPHY, CONGENITAL, 1C
Role
preferred
Name
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
Role
preferred
Name
Malignant Hyperpyrexia Due To Anesthesia
Role
preferred
Name
Malignant Hyperthermia Susceptibility Type 1
Role
preferred
Name
Muscular Dystrophy, Congenital, Type 1D
Role
preferred
Name
Myopathy, Centronuclear, Autosomal Dominant
Role
preferred
Name
Myopathy, Centronuclear, Autosomal Recessive
Role
preferred
Name
Myopathy, Congenital, With Fiber-Type Disproportion
Role
preferred
Name
Myotubular (Centronuclear) Myopathy
Role
preferred
Name
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
Role
preferred
Name
Nemaline Myopathy, Autosomal Dominant
Role
preferred
Name
Nemaline Myopathy, Autosomal Recessive
Role
preferred
Name
Nemaline Myopathy, Childhood Onset
Role
preferred
Name
Autosomal Dominant Centronuclear Myopathy
Role
alias
Name
CCD
Role
alias
Name
CCO
Role
alias
Name
CNM1
Role
alias
Name
CNMX
Role
alias
Name
Central Core Myopathy
Role
alias
Name
Centronuclear Myopathy 1
Role
alias
Name
Centronuclear Myopathy 2
Role
alias
Name
Centronuclear Myopathy, X-Linked
Role
alias
Name
Congenital Muscular Dystrophy 1B
Role
alias
Name
Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency
Role
alias
Name
Congenital Myopathies
Role
alias
Name
HYPERPYREXIA, MALIGNANT
Role
alias
Name
HYPERTHERMIA OF ANESTHESIA
Role
alias
Name
KING SYNDROME
Role
alias
Name
KING-DENBOROUGH SYNDROME
Role
alias
Name
MDCMC
Role
alias
Name
MDDGB1
Role
alias
Name
MDDGB14
Role
alias
Name
MDDGB2
Role
alias
Name
MDDGB3
Role
alias
Name
MDDGB4
Role
alias
Name
MDDGC12
Role
alias
Name
MH
Role
alias
Name
MHS
Role
alias
Name
MHS1
Role
alias
Name
MTM1
Role
alias
Name
MTMX
Role
alias
Name
MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED
Role
alias
Name
MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
Role
alias
Name
MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED
Role
alias
Name
MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
Role
alias
Name
MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED
Role
alias
Name
MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES
Role
alias
Name
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED
Role
alias
Name
MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
Role
alias
Name
MYOPATHY, TUBULAR AGGREGATE
Role
alias
Name
MYOTUBULAR MYOPATHY 1
Role
alias
Name
MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT
Role
alias
Name
MYOTUBULAR MYOPATHY, X-LINKED
Role
alias
Name
Malignant Hyperpyrexia
Role
alias
Name
Malignant Hyperthermia
Role
alias
Name
Malignant Hyperthermia Due To Anaesthesia
Role
alias
Name
Malignant Hyperthermia With Anesthesia
Role
alias
Name
Mdcl
Role
alias
Name
Megaconial Type Congenital Muscular Dystrophy
Role
alias
Name
Muscular Dystrophy, Congenital, Eichsfeld Type
Role
alias
Name
Muscular Dystrophy, Congenital, Lmna-Related
Role
alias
Name
Muscular Dystrophy-Dystroglycanopathy
Role
alias
Name
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6
Role
alias
Name
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Mental Retardation), Type B, 5
Role
alias
Name
Muscular Dystrophy-Dystroglycanopathy Type B5
Role
alias
Name
Muscular Dystrophy-Dystroglycanopathy Type B6
Role
alias
Name
Myopathies, Structural, Congenital
Role
alias
Name
Myopathy, Central Core
Role
alias
Name
Myopathy, Centronuclear
Role
alias
Name
Myopathy, Centronuclear, 2
Role
alias
Name
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER
Role
alias
Name
Nemaline Myopathy
Role
alias
Name
Rigid Spine Muscular Dystrophy 1
Role
alias
Name
Rigid Spine Syndrome
Role
alias
Name
TAM
Role
alias
Name
TAM1
Role
alias
Name
TAM2
Role
alias
Name
X-linked Myotubular Myopathy
Role
alias
Name
XLCNM
Role
alias
Name
XLMTM
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002047
Herb
HBDIS001841HBDIS004189HBDIS004343HBDIS006538HBDIS006539HBDIS009040HBDIS009045HBDIS009046HBDIS009047HBDIS010075HBDIS010078HBDIS011401HBDIS011402HBDIS011524HBDIS011586HBDIS015251HBDIS015850HBDIS016410HBDIS017896HBDIS018188HBDIS019311HBDIS019885HBDIS019905HBDIS020080HBDIS020181HBDIS020630HBDIS020632HBDIS020633HBDIS021911HBDIS021929HBDIS022327HBDIS022974HBDIS023099HBDIS027347HBDIS028800HBDIS029188HBDIS029565
Me Sh
D008305D017696D020512D020914
Omim
117000145600160150160565255200255310310400602541602771606612608840613151613152613155613156613204613205615351615883616094
Umls
C0024591C0175709C0206157C0270962C0410203C0410207C0546264C0751951C0752282C1263858C1834558C1840365C1861751C1861752C1861753C1865233C2674259C2750785C2750786C2751052C3150412C3150415C3150416C3809221C4011726C4014557C4015184
Icd10
G71.2T88.3
Sym Map
SMDE00192SMDE00702SMDE00840SMDE01036SMDE01143SMDE01178SMDE01329SMDE01721SMDE01804SMDE01873SMDE02201SMDE02279SMDE03147SMDE03354SMDE03615SMDE04393SMDE04600SMDE04686SMDE04928SMDE06863SMDE07275SMDE07493SMDE10224SMDE10673SMDE11031SMDE11134SMDE11136SMDE11142SMDE11248SMDE14048
Do Class
DOID:630DOID:7
Dis Ge Net
C0024591C0175709C0206157C0270960C0270962C0410180C0410203C0410204C0410207C0546125C0546264C0751656C0751657C0751951C0752282C1834558C1837229C1840365C1847759C1861753C1865233C2674259C2750785C2750786C2751052C2875316C2930980C3150412C3150415C3150416C3645536C3661489C3809221C4011726C4014557C4015184C4551952
Orphanet
1579732020258596597
Umls Sty
T019T033T047
Hpo Class
HP:0001939
Me Sh Class
C05C10C16C23F01F03
Etcm Disease
Central Core Disease of MuscleCentronuclear MyopathyCongenital Fiber-Type DisproportionMuscular Dystrophy, Congenital, Due to Integrin Alpha-7 DeficiencyMuscular Dystrophy, Congenital, Megaconial TypeMyopathy, Congenital, with Fiber-Type DisproportionMyopathy, Tubular Aggregate, 1Myopathy, Tubular Aggregate, 2
Tcmbank Disease
1152712619135871478615758157701616017703195002031121814231242331924824962256172563725943266782710628196287182905329346306583091556475803716378687943810690259747
Itcmdb Generated
ITX-DISEASE-104EAC2D5C94ITX-DISEASE-18AA5C36478EITX-DISEASE-21FBAF050DCBITX-DISEASE-3184EFBBFB07ITX-DISEASE-4F1B7242166EITX-DISEASE-7F004357C7D2ITX-DISEASE-89B4A5B3DE8CITX-DISEASE-92FE19FDCEFDITX-DISEASE-9E9444A1DC46ITX-DISEASE-AF4B4F8660EEITX-DISEASE-B1991E1E2F95ITX-DISEASE-DDFC9ADD4C54ITX-DISEASE-E31433A99527ITX-DISEASE-ECA90F4F1F4DITX-DISEASE-F3FD9F43BFFF
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
01
Page Title
Disease Central Core Disease of Muscle Details pageDisease Centronuclear Myopathy Details pageDisease Congenital Fiber-Type Disproportion Details pageDisease Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency Details pageDisease Muscular Dystrophy, Congenital, Megaconial Type Details pageDisease Myopathy, Congenital, with Fiber-Type Disproportion Details pageDisease Myopathy, Tubular Aggregate, 1 Details pageDisease Myopathy, Tubular Aggregate, 2 Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
diseasegroup
Hpo Class Name
Abnormality of metabolism/homeostasis
Link Disease Id
1178.0
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFinding
Basic Information
Disease Name
Central Core Disease of Muscle
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Muscle diseases;Neuronal diseases
Disease Name
Centronuclear Myopathy
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Cardiovascular diseases;Muscle diseases;Neuronal diseases;Respiratory diseases
Disease Name
Congenital Fiber-Type Disproportion
Global Category
Rare diseases
Anatomical Category
Muscle diseases;Neuronal diseases;Oral diseases;Respiratory diseases
Disease Name
Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Muscle diseases;Neuronal diseases
Disease Name
Muscular Dystrophy, Congenital, Megaconial Type
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Muscle diseases;Neuronal diseases
Disease Name
Myopathy, Congenital, with Fiber-Type Disproportion
Global Category
Genetic diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Name
Myopathy, Tubular Aggregate, 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Muscle diseases;Neuronal diseases
Disease Name
Myopathy, Tubular Aggregate, 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Muscle diseases;Neuronal diseases
Disease Definition
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.MSH2017_2016_08_12:A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)NCI2016_02D:A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.|MSH2017_2016_08_12:A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.NCI2016_02D: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.NCI2016_02D:An X-linked recessive inherited disorder caused by mutations in the MTM1 gene. Primarily it affects males. Female carriers are usually asymptomatic. It is characterized by skeletal muscle weakness and hypotonia. The muscle weakness ranges from mild to severe. Newborns with severe X-linked centronuclear myopathy develop respiratory distress which may lead to respiratory failure requiring constant ventilator assistance. Patients with mild X-linked centronuclear myopathy usually require ventilator support during the newborn period only.|JABL99:An X-linked form of myotubular myopathy. Male patients are born as floppy infants with abnormalities of the extraocular, neck, and facial muscles and respiratory problems. Large heads with or without hydrocephalus, narrow elongated face, muscle hypotonia, and slender fingers are the principal manifestations.NCI2016_NICHD_1602D:A rare drug reaction characterized by a rapid rise of the body temperature and rhabdomyolysis.|NCI2016_02D:A rare disorder characterized by rapid rise of the body temperature, accompanied by rhabdomyolysis and, if untreated, by collapse and death. It occurs in susceptible individuals who receive certain drugs for general anesthesia, gas anesthetics, or succinylcholine. It may be inherited in an autosomal dominant pattern.|MSH2017_2016_08_12:Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.|HPO2016_07_04:Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. [HPO:curators]|CSP2006:usually inherited reaction to general anesthesia manifested as a sudden, rapid rise in temperature, hypermetabolism, and skeletal muscle rigidity; mutation is in the calcium release channel of skeletal muscle sarcoplasmic reticulum.SNOMEDCT_US_2016_09_01:An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible.X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesNervous System Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesMusculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFinding