ORPHA:46
Adenylosuccinate lyase deficiency
Synonyms: ADSL deficiency · Adenylosuccinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adenylosuccinate lyase deficiency | ADSL deficiency · Adenylosuccinase deficiency |
| fr | Déficit en adénylosuccinate lyase | Déficit en ADSL · Déficit en adénylosuccinase |
| de | Adenylosuccinat-Lyase-Mangel | Adenylosuccinase-Mangel |
| es | Deficiencia de adenilsuccinato liasa | |
| it | Deficit di adenilsuccinato liasi | Deficit di adenilsuccinasi |
| nl | Deficiëntie van adenylosuccinaatlyase | ADSL-deficiëntie · Deficiëntie van adenylosuccinase |
| pt | Deficiência de adenilossuccinato liase | Deficiência de adenilossuccinase |
| pl | Deficyt liazy adenylobursztynianowej | Niedobór adenylosukcynazy · Niedobór ADSL |
| cs | Deficit adenylosukcinátlyázy | Deficit ADSL · Deficit adenylosukcinázy |
| uk | Дефіцит аденілосукцинатліази | Дефіцит аденілосукцинази · Дефіцит ADSL |
| zh | 腺苷酸琥珀酸裂解酶缺乏症 | 腺苷琥珀酸酶缺乏症 |
| tr | Adenilosukinat liyaz eksikliği | ADSL eksikliği · Adenilosüksinaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 103050 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.0Y | NTBT | index | validated |
| MONDO | 0007068 | E | validated | |
| MeSH | C538235 | E | validated | |
| UMLS | C0268126 | E | validated | |
| GARD | 550 | E | validated | |
| MedDRA | 10081681 | 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 (5):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADSL | Disease-causing germline mutation(s) in | Assessed | HGNC:291 | ENSG00000239900 | 608222 | 22q13.1 | adenylosuccinate lyase | 18524658[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 56 cases | Worldwide | Case(s) | Validated | 18830228[PMID] | |
| 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.
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HPO phenotypes
17 annotations · validated 2017-02-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001344 | Absent speech | |
| HP:0000463 | Anteverted nares | |
| HP:0000248 | Brachycephaly | |
| HP:0005469 | Flat occiput | |
| HP:0001290 | Generalized hypotonia | |
| HP:0007103 | Hypointensity of cerebral white matter on MRI | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0003196 | Short nose | |
| HP:0000319 | Smooth philtrum | |
| HP:0000219 | Thin upper lip vermilion | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12070256[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/46
- This record as JSON: /data/d/46.json