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Ontology Browser
Term:
myopathy due to calsequestrin and SERCA1 protein overload (EFO:MONDO:0014546)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +  
adult-onset nemaline myopathy 
advanced sleep phase syndrome 
Al Kaissi syndrome 
alpha-actinopathy +  
anencephaly +  
Angelman syndrome +  
angioid streaks +  
arthrogryposis +  
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 
ataxia telangiectasia 
ATP1A3-associated neurological disorder +  
auditory neuropathy +  
autosomal recessive non-syndromic intellectual disability +  
B4GALT1-congenital disorder of glycosylation 
Bailey-Bloch congenital myopathy 
Behr syndrome 
benign familial infantile epilepsy +  
benign neonatal seizures 
benign paroxysmal tonic upgaze of childhood with ataxia 
bilateral frontoparietal polymicrogyria 
bilateral generalized polymicrogyria 
bilateral parasagittal parieto-occipital polymicrogyria 
bilateral striopallidodentate calcinosis +  
bilirubin encephalopathy +  
biotin-responsive basal ganglia disease 
blue color blindness 
Bohring-Opitz syndrome 
Bosch-Boonstra-Schaaf optic atrophy syndrome 
bradyopsia 
brain-lung-thyroid syndrome 
Brody myopathy 
cardiac anomalies - developmental delay - facial dysmorphism syndrome 
caveolinopathy +  
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 
cerebral amyloid angiopathy +   
cerebral lipidosis with dementia +  
Chiari malformation type I 
Chiari malformation type II 
childhood apraxia of speech 
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 
childhood-onset nemaline myopathy +  
choroid plexus papilloma 
chromosome 2p16.3 deletion syndrome 
chronic fatigue syndrome  
chronic inflammatory demyelinating polyneuropathy 
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 
CK syndrome 
Cohen syndrome 
coloboma of optic nerve +  
combined pituitary hormone deficiencies, genetic form +  
complex cortical dysplasia with other brain malformations +  
congenital diaphragmatic hernia +  
congenital hydrocephalus +  
congenital myopathy +  
congenital nystagmus +  
congenital stationary night blindness +  
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 
DHDDS-related syndrome +  
dilated cardiomyopathy 3B 
Duane retraction syndrome +  
dyskinesia with orofacial involvement, autosomal dominant 
encephalopathy due to mitochondrial and peroxisomal fission defect +  
encephalopathy, acute, infection-induced +   
epilepsy, familial adult myoclonic +  
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +  
essential tremor +   
familial congenital mirror movements +  
familial congenital palsy of trochlear nerve 
familial hemiplegic migraine +  
familial hemophagocytic lymphohistiocytosis type 1 
familial hyperprolactinemia 
familial infantile myoclonic epilepsy 
familial isolated pituitary adenoma +  
familial meningioma 
familial partial epilepsy +   
familial periodic paralysis +   
familial porencephaly +  
familial pterygium of the conjunctiva 
familial retinal arterial macroaneurysm 
familial schizencephaly 
familial syringomyelia 
famililal cerebral cavernous malformations +  
FHL1-related myopathy +  
folinic acid-responsive seizures 
Frey Syndrome 
Gerstmann-Straussler-Scheinker syndrome 
GLUT1 deficiency syndrome +  
glutaryl-CoA dehydrogenase deficiency 
glycine encephalopathy +  
Griscelli syndrome type 1 
hereditary ataxia +   
hereditary cryohydrocytosis with reduced stomatin 
hereditary generalized epilepsy +   
hereditary hyperekplexia +  
hereditary inclusion-body myopathy +  
hereditary myopathy with lactic acidosis due to ISCU deficiency 
hereditary narcolepsy 
hereditary neuromuscular disease +   
hereditary retinoblastoma 
holoprosencephaly +  
Hoyeraal-Hreidarsson syndrome 
HSD10 mitochondrial disease +  
hypermanganesemia with dystonia 2 
inborn aminoacylase deficiency +  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 
inherited dystonia +   
inherited neurodegenerative disorder +   
inherited orthostatic hypotension +  
inherited reflex epilepsy +  
inherited retinal dystrophy +   
inherited rippling muscle disease +  
inherited vitreoretinopathy +  
intellectual developmental disorder and retinitis pigmentosa 
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 
intellectual developmental disorder with neuropsychiatric features 
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 
intellectual disability, autosomal dominant +  
intellectual disability, autosomal recessive 53 
intellectual disability-hypotonia-spasticity-sleep disorder syndrome 
intellectual disability-severe speech delay-mild dysmorphism syndrome 
intellectual disability-sparse hair-brachydactyly syndrome 
intracranial berry aneurysm +  
isolated cerebellar hypoplasia/agenesis 
isolated hereditary congenital facial paralysis 
Johanson-Blizzard syndrome 
KBG syndrome 
King-Denborough syndrome 
Landau-Kleffner syndrome +  
lateral meningocele syndrome 
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 
leukoencephalopathy, megalencephalic +  
Li-Fraumeni syndrome 
linear nevus sebaceous syndrome 
lissencephaly spectrum disorders +  
macrocephaly/megalencephaly syndrome, autosomal recessive 
megalencephaly-capillary malformation-polymicrogyria syndrome 
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +  
Mendelian neurodevelopmental disorder +  
metabolic myopathy due to lactate transporter defect 
microangiopathy and leukoencephalopathy, pontine, autosomal dominant 
microcephaly-complex motor and sensory axonal neuropathy syndrome 
mismatch repair cancer syndrome 1 
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 
Mowat-Wilson syndrome +  
Moyamoya disease +   
multiminicore myopathy +  
multiple pterygium-malignant hyperthermia syndrome 
muscular dystrophy +   
Myhre syndrome 
myoclonus, familial 
myofibrillar myopathy 5 
myopathy caused by variation in CRPPA +  
myopathy caused by variation in FKRP +  
myopathy caused by variation in FKTN +  
myopathy caused by variation in GMPPB +  
myopathy caused by variation in POMGNT1 +  
myopathy caused by variation in POMGNT2 +  
myopathy caused by variation in POMT1 +  
myopathy caused by variation in POMT2 +  
myopathy due to calsequestrin and SERCA1 protein overload 
Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
myopathy with abnormal lipid metabolism 
myopic macular degeneration 
myosclerosis 
neurocutaneous melanocytosis 
neurofibromatosis +  
neurohypophyseal diabetes insipidus 
neuroocular syndrome 
nevoid basal cell carcinoma syndrome 
noise-induced hearing loss  
nonsyndromic genetic hearing loss +  
normal pressure hydrocephalus  
NPHP3-related Meckel-like syndrome 
obsessive-compulsive disorder  
occipital pachygyria and polymicrogyria 
oculocerebrocutaneous syndrome 
orofaciodigital syndrome type 6 
Paraganglioma +  
paramyotonia congenita of Von Eulenburg 
parietal foramina +  
Parkinson disease +   
parkinsonism with polyneuropathy 
paroxysmal extreme pain disorder 
PAX6-related ocular dysgenesis +  
PEHO-like syndrome 
periventricular nodular heterotopia +  
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 
Perry syndrome 
phakomatosis pigmentokeratotica 
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 
Pierpont syndrome 
Poland syndrome 
polyglucosan body myopathy +  
polyhydramnios, megalencephaly, and symptomatic epilepsy 
pontocerebellar hypoplasia +  
potassium-aggravated myotonia +  
PPP2R1A-related intellectual disability 
Prader-Willi-like syndrome +  
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 
progressive external ophthalmoplegia +  
progressive myoclonus epilepsy +  
proximal myopathy with extrapyramidal signs 
PrP systemic amyloidosis 
PRRT2-associated paroxysmal movement disorder +  
pyridoxal phosphate-responsive seizures 
pyridoxine-dependent epilepsy +  
qualitative or quantitative defects of alpha-sarcoglycan +  
qualitative or quantitative defects of beta-myosin heavy chain (MYH7) +  
qualitative or quantitative defects of beta-sarcoglycan +  
qualitative or quantitative defects of delta-sarcoglycan +  
qualitative or quantitative defects of desmin +  
qualitative or quantitative defects of dysferlin +  
qualitative or quantitative defects of gamma-sarcoglycan +  
qualitative or quantitative defects of perlecan +  
qualitative or quantitative defects of plectin +  
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +  
qualitative or quantitative defects of telethonin +  
qualitative or quantitative defects of TRIM32 +  
red color blindness 
red-green color blindness 
retinal ciliopathy +  
retinal detachment +   
rhabdoid tumor predisposition syndrome 2 
Riley-Day syndrome 
Ritscher-Schinzel syndrome +  
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 
SATB2 associated disorder +  
Schinzel-Giedion syndrome 
schizophrenia 15 
SERAC1-related neurological disorder +  
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth +  
severe congenital nemaline myopathy +  
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 
severe neonatal-onset encephalopathy with microcephaly 
short stature-brachydactyly-obesity-global developmental delay syndrome 
SIN3A-related intellectual disability syndrome 
SLC39A8-CDG 
SLC6A3-related dopamine transporter deficiency syndrome +  
Smith-Magenis syndrome 
SPAST-related motor disorder +  
spastic quadriplegic cerebral palsy +  
specific language impairment +   
specific phobia +  
Sturge-Weber syndrome 
stutter disorder +  
SYNGAP1-related developmental and epileptic encephalopathy 
TH-deficient dopa-responsive dystonia 
Tourette syndrome  
TPM2-related myopathy +  
TPM3-related myopathy +  
TTN-related myopathy +  
TUBB3-related tubulinopathy +  
tuberous sclerosis 
typical nemaline myopathy +  
undetermined early-onset epileptic encephalopathy +  
Ververi-Brady syndrome 
Wieacker-Wolff syndrome (spectrum) +  
X-linked deafness +  
X-linked immunoneurologic disorder 
X-linked intellectual disability +  

Synonyms
Related Synonyms: VMCQA ;   myopathy, vacuolar, with CASQ1 aggregates
Alternate IDs: MONDO:0014546
Xrefs: GARD:16770 ;   MEDGEN:864061 ;   MIM:616231 ;   ORDO:88635 ;   SCTID:724095006 ;   UMLS:C4015624
Definition Sources: Orphanet:88635

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