ALDH18A1-related De Barsy syndrome
Synonyms: Neurocutaneous syndrome, Bicknell type · P5CS deficiency · Delta-1-pyrroline 5-carboxylate synthetase deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALDH18A1-related De Barsy syndrome | Neurocutaneous syndrome, Bicknell type · P5CS deficiency · Delta-1-pyrroline 5-carboxylate synthetase deficiency |
| fr | Syndrome de De Barsy associé à ALDH18A1 | Déficit en P5CS · Déficit en delta-1-pyrroline 5-carboxylate synthétase · Syndrome neurocutané type Bicknell |
| de | DeBarsy-Syndrom, ALDH18A1-abhängiges | Delta-1-Pyrrolin-5-Carboxylat-Synthetase-Mangel · Neurokutanes Syndrom Typ Bicknell · P5CS-Mangel |
| es | Síndrome de De Barsy asociado a ALDH18A1 | Deficiencia de Delta-1-pirrolina 5-carboxilato sintetasa · Deficiencia de P5CS · Síndrome neurocutáneo tipo Bicknell |
| it | Sindrome di De Barsy correlata a ALDH18A1 | Deficit di P5CS · Deficit di delta-1-pirrolina 5-carbossilato sintetasi · Sindrome neurocutanea, tipo Bicknell |
| nl | ALDH18A1-gerelateerd syndroom van De Barsy | Delta-1-pyrroline 5-carboxylaatsynthetasedeficiëntie · Neurocutaan syndroom, Bicknell-type · P5CS-deficiëntie |
| pt | Síndrome De Barsy ALDH18A1-relacionada | Deficiência de delta-1-pirrolina-5-carboxilato sintetase |
| pl | Zespół De Barsy'ego związany z ALDH18A1 | Delta-1-pyrroline 5-carboxylate synthetase deficiency Niedobór syntetazy karboksylanu delta-1-piroliny · Niedobór P5CS · Zespół nerwowo-skórny, typ Bicknella |
| cs | ALDH18A1-vázaný De Barsyho syndrom | Deficit delta 1-pyrrolin-5-karboxylátsyntetázy · Deficit P5CS · Neurokutánní syndrom, Bicknellův typ |
| uk | Синдром де Барсі, повязаний з ALDH18A1 | Дефіцит дельта-1-піролін-5-карбоксилатсинтетази · Нейрошкірний синдром, тип Бікнелла · Дефіцит P5CS |
| zh | ALDH18A1相关De Barsy综合征 | δ1-二氢吡咯5-羧酸合成酶缺乏症 |
| tr | ALDH18A1--ilişkili De Barsy sendromu | P5CS eksikliği · Nörokutanöz sendrom, Bicknell tipi · Delta-1-pirrolin 5-karboksilat sentetaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219150 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.8 | NTBT | index | validated |
| MONDO | 0009053 | E | validated | |
| UMLS | C5234852 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2962De Barsy syndrome
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDH18A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9722 | ENSG00000059573 | 138250 | 10q24.1 | aldehyde dehydrogenase 18 family member A1 | 21739576[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0001263 | Global developmental delay | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35664
- This record as JSON: /data/d/35664.json