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1 OMIM reference -
1 associated gene
34 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
39 OMIM references -
38 associated genes
13 signs/symptoms
Glutaryl-CoA dehydrogenase deficiency
Familial isolated dilated cardiomyopathy

GCDH ABCC9
ACTC1
ACTN2
BAG3
CRYAB
CSRP3
DES
DMD
DOLK
DSG2
FHL2
FKTN
GATAD1
LAMA4
LDB3
MYBPC3
MYH6
MYH7
MYPN
NEXN
PLN
PRDM16
PSEN1
PSEN2
RBM20
SCN5A
SDHA
SGCD
TAZ
TCAP
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TTN
TXNRD2
VCL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GCDH
GCDH
(0.72)
(0.63)
PSEN1
PSEN2



Citations in the biomedical literature:


Glutaryl-CoA dehydrogenase deficiency
GCDH
Familial isolated dilated cardiomyopathy
ABCC9 ACTC1 ACTN2 BAG3 CRYAB CSRP3
DES DMD DOLK DSG2 FHL2 FKTN
GATAD1 LAMA4 LDB3 MYBPC3 MYH6 MYH7
MYPN NEXN PLN PRDM16 PSEN1 PSEN2
RBM20 SCN5A SDHA SGCD TAZ TCAP
TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
TXNRD2 VCL



Glutaryl-CoA dehydrogenase deficiency
Familial isolated dilated cardiomyopathy

Synonym(s):
- GA1
- GCDHD
- Glutaric acidemia type 1
- Glutaric aciduria type 1
- Glutaryl-coenzyme A dehydrogenase deficiency

Synonym(s):
- Familial or idiopathic dilated cardiomyopathy

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536833
External references:
39 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal recessive inheritance


Glutaryl-CoA dehydrogenase deficiency
Familial isolated dilated cardiomyopathy

Very frequent
- Dystonia / torticollis / writer's cramp / blepharospasms
- Encephalitis
- Hyperkinesia / dyskinesia
- Large fontanelle / delayed fontanelle closure
- Metabolic anomalies
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Extrapyramidal syndrome
- Facial dysmorphism
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Frontal bossing / prominent forehead
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Joint / articular deformation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Movement disorder
- Structural anomalies of the nervous system

Occasional
- Abnormal eye movements / oculomotor disorder
- Abnormal gait
- Dizziness
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Malignant hyperthermia
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline
- Retinal vascular anomalies / retinal telangiectasia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Transient cerebral ischemia / stroke


Very frequent
- Autosomal dominant inheritance
- Cardiomyopathy / hypertrophic / dilated

Occasional
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Lipoatrophy
- Myopathy
- Palmoplantar hyperkeratosis / keratoderma
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sensorineural deafness / hearing loss
- Stillbirth / neonatal death
- X-linked dominant inheritance
- X-linked recessive inheritance