Classic glucose transporter type 1 deficiency syndrome
Go to external page http://www.orpha.net/ORDO/Orphanet_71277
Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.
Synonyms:
Classic GLUT1 deficiency syndrome
De Vivo disease
Encephalopathy due to GLUT1 deficiency
Classic GLUT1-DS
This is just here as a test because I lose it
Term information
database
cross reference
- ICD-10:G40.4 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)
- OMIM:606777 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C1847501 (E (Exact mapping: the two concepts are equivalent))
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277
hasDbXref
- OMIM:606777
- ICD-10:G40.4
- UMLS:C1847501
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409945
- http://www.orpha.net/ORDO/Orphanet_409944
has birth prevalence average value
- 1.2
- 1.11
has birth prevalence range
- http://www.orpha.net/ORDO/Orphanet_409977
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409929
- http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409981
notation
- ORPHA:71277
part of
- http://www.orpha.net/ORDO/Orphanet_225713
- http://www.orpha.net/ORDO/Orphanet_79178
- http://www.orpha.net/ORDO/Orphanet_68385
present in
- http://www.orpha.net/ORDO/Orphanet_409991
- http://www.orpha.net/ORDO/Orphanet_410006
- http://www.orpha.net/ORDO/Orphanet_410051
Term relations
Subclass of: