Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Synonyms: SLC35A3-CDG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autism spectrum disorder-epilepsy-arthrogryposis syndrome | SLC35A3-CDG |
| fr | Syndrome d'arthrogrypose-épilepsie-trouble du spectre de l'autisme | = en |
| de | Autismus-Spektrum-Störung-Epilepsie-Arthrogrypose-Syndrom | = en |
| es | Síndrome de trastorno del espectro autista-epilepsia-artrogriposis | = en |
| it | Sindrome disturbo dello spettro autistico-epilessia-artrogriposi | = en |
| nl | Autismespectrumstoornis - epilepsie - artrogrypose-syndroom | = en |
| pt | Síndrome de espectro clínico de autismo-epilepsia-artrogripose | |
| pl | Zespół zaburzenia ze spektrum autyzmu-padaczka-artrogrypoza | = en |
| cs | Syndrom zahrnující poruchu autistického spektra, epilepsii a artrogrypózu | = en |
| uk | Синдром розладу аутистичного спектру-епілепсїя-артрогрипозу | = en |
| zh | 自闭症谱系障碍-癫痫-关节病综合征 | = en |
| tr | Otizm spektrum bozukluğu-epilepsi-artrogripoz sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615553 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | attributed | validated |
| MONDO | 0014248 | E | validated | |
| UMLS | C4518080 | 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 (6):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:309347Disorder of protein N-glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC35A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11023 | ENSG00000117620 | 605632 | 1p21.2 | solute carrier family 35 member A3 | 24031089[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 24031089[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24031089[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
10 annotations · validated 2017-03-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000729 | Autistic behavior | |
| Frequent (79-30%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0004976 | Knee dislocation | |
| Occasional (29-5%) | ||
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001765 | Hammertoe | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002650 | Scoliosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24031089[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370943
- This record as JSON: /data/d/370943.json