PUM1-associated developmental disability-ataxia-seizure syndrome
Synonyms: PADDAS syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PUM1-associated developmental disability-ataxia-seizure syndrome | PADDAS syndrome |
| fr | Syndrome de retard de développement-ataxie-épilepsie associé à PUM1 | Syndrome PADDAS |
| de | PUM1-assoziiertes Syndrom der Entwicklungsstörung, Ataxie und Krampfanfälle | Ataxie, spinozerebelläre, Typ 47 · PADDAS-Syndrom · PUM1-assoziierte Entwicklungsstörung mit Ataxie und Krampfanfällen · SCA47 |
| es | Síndrome de discapacidad del desarrollo-ataxia-epilepsia asociado a PUM1 | Ataxia espinocerebelosa tipo 47 · Síndrome PADDAS |
| it | Sindrome da ritardo dello sviluppo-atassia-crisi epilettiche correlata a PUM1 | Sindrome PADDAS |
| nl | PUM1-geassocieerd ontwikkelingsstoornis - ataxie - insulten-syndroom | PADDAS-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual-ataxia-convulsões PUM1-associada | Síndrome PADDAS |
| pl | Zespół niepełnosprawności rozwojowej, ataksji i napadów związanych z PUM1 | Zespół PADDAS · Zespół niepełnosprawności rozwojowej, ataksji i drgawek związany z PUM1 |
| cs | PUM1-asociovaný syndrom zahrnující vývojovou poruchu, ataxii a záchvaty | = en |
| uk | PUM1-асоційований синдром затримки розвитку-атаксії-судом | Синдром PADDAS |
| zh | PUM1-associated developmental disability-ataxia-seizure syndrome | PADDAS syndrome · SCA47 |
| tr | PUM1-associated developmental disability-ataxia-seizure syndrome | PADDAS syndrome · SCA47 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620719 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| MONDO | 0035117 | E | validated | |
| MONDO | 35117 | E | validated | |
| UMLS | C4693672 | 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 (3):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:166472Monogenic disease with epilepsy
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PUM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14957 | ENSG00000134644 | 607204 | 1p35.2 | pumilio RNA binding family member 1 | 30903679[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 29474920[PMID]_31859446[PMID]_30903679[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29474920[PMID]_31859446[PMID]_30903679[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589515
- This record as JSON: /data/d/589515.json