ORPHA:79507
Hypotonia-failure to thrive-microcephaly syndrome
Synonyms: LTC4 synthase deficiency · Leukotriene C4 synthase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotonia-failure to thrive-microcephaly syndrome | LTC4 synthase deficiency · Leukotriene C4 synthase deficiency |
| fr | Syndrome d'hypotonie-retard staturo-pondéral-microcéphalie | Déficit en leucotriène-C4 synthétase |
| de | Hypotonie - Gedeihstörungen - Mikrozephalie | Leukotrien-C4 (LTC4)-Synthase-Mangel |
| es | Síndrome de hipotonía-falta de crecimiento-microcefalia | Deficiencia de leucotrieno C4 (LTC4) sintetasa · Deficiencia de leucotrieno C4 sintasa (LTC4S) |
| it | Ipotonia - ritardo di crescita - microcefalia | Deficit di leucotriene C4 (LTC4) sintasi |
| nl | Hypotonie - niet-gedijen - microcefalie-syndroom | Deficiëntie van LTC4-synthase · Deficiëntie van leukotrieen C4-synthase |
| pt | Síndrome de hipotonia-má evolução estaturoponderal-microcefalia | Deficiência de LTC4 sintetase · Deficiência de leucotrieno C4 sintase |
| pl | Hipotonia - zahamowanie wzrostu - mikrocefalia | Niedobór syntazy leukotrienu C4 · Niedobór syntazy LTC4 |
| cs | Syndrom zahrnující hypotonii, neprospívání a mikrocefalii | Deficit LCT4 syntázy · Deficit leukotrien C4 syntázy |
| uk | Синдром гіпотонії-відставання в розвитку-мікроцефалії | Дефіцит синтази лейкотрієну С4 · Дефіцит синтази LTC4 |
| zh | 肌张力低下-发育停滞-小头畸形综合征 | 白三烯C4合成酶缺乏症 |
| tr | Hipotoni-gelişme bozukluğu-mikrosefali sendromu | LTC4 sentaz eksikliği · Lökotrien C4 sentaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614037 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5D0Y | NTBT | attributed | validated |
| MONDO | 0013539 | E | validated | |
| MeSH | C565439 | E | validated | |
| UMLS | C3279662 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:91088Other metabolic disease
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 10896305[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10896305[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79507
- This record as JSON: /data/d/79507.json