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ALDH18A1-related De Barsy syndrome
Disease definition
A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.
ORPHA:35664
Classification level: Subtype of disorder- Synonym(s):
- Delta-1-pyrroline 5-carboxylate synthetase deficiency
- Neurocutaneous syndrome, Bicknell type
- P5CS deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive or Not applicable
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.8
- ICD-11: 5C50.8
- OMIM: 219150
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)
Detailed information
Guidelines
- Anesthesia guidelines
- Czech (2017) - Orphananesthesia
- English (2017) - Orphananesthesia
- Español (2018) - Orphananesthesia
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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