ORPHA:544254
SYNGAP1-related developmental and epileptic encephalopathy
Synonyms: SYNGAP1-related DEE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SYNGAP1-related developmental and epileptic encephalopathy | SYNGAP1-related DEE |
| fr | Encéphalopathie épileptique et développementale associée à SYNGAP1 | |
| de | SYNGAP1-assoziierte Entwicklungsverzögerung mit epileptischer Enzephalopathie | SYNGAP1-abhängige DEE |
| es | Encefalopatía epiléptica y del desarrollo asociada a SYNGAP1 | DEE asociada a SYNGAP1 |
| it | Encefalopatia epilettica e dello sviluppo correlata a SYNGAP1 | |
| nl | SYNGAP1-gerelateerde ontwikkelingsachterstand en epileptische encefalopathie | SYNGAP1-gerelateerde DEE |
| pt | Encefalopatia epilética e desenvolvimento SYNGAP1-relacionada | |
| pl | Encefalopatia epileptyczna i rozwojowa związana z SYNGAP1 | = en |
| cs | SYNGAP1-vázaná vývojová a epileptická encefalopatie | SYNGAP1-vázaná DEE |
| uk | Повязана з SYNGAP1 енцефалопатія розвитку та епілептична енцефалопатія | DEE, повязані з SYNGAP1 |
| zh | SYNGAP1基因相关的发育和癫痫性脑病 | = en |
| tr | SYNGAP1-ilişkili gelişimsel ve epileptik ensefalopati | SYNGAP1-ilişkili DEE |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612621 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0034099 | E | validated | |
| MONDO | 12960 | E | validated | |
| MONDO | 34099 | E | validated | |
| UMLS | C5680163 | 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 (2):
- ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| SYNGAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11497 | ENSG00000197283 | 603384 | 6p21.32 | synaptic Ras GTPase activating protein 1 | 30541864[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 57 cases | Worldwide | Case(s) | Validated | 30541864[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30541864[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
41 annotations · validated 2020-08-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010832 | Abnormality of pain sensation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0100738 | Abnormal eating behavior | |
| HP:0001999 | Abnormal facial shape | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0002376 | Developmental regression | |
| HP:0020208 | Eating-induced seizure | |
| HP:0001288 | Gait disturbance | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002370 | Poor coordination | |
| HP:0002465 | Poor speech | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0012703 | Abnormal subarachnoid space morphology | |
| HP:0030810 | Abnormal tongue physiology | |
| HP:0001344 | Absent speech | |
| HP:0040080 | Anteverted ears | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000490 | Deeply set eye | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000218 | High palate | |
| HP:0000047 | Hypospadias | |
| HP:0000276 | Long face | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0011150 | Myoclonic absence | |
| HP:0000160 | Narrow mouth | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0100259 | Postaxial polydactyly | |
| HP:0100023 | Recurrent hand flapping | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0000233 | Thin vermilion border | |
| HP:0001337 | Tremor | |
| HP:0000325 | Triangular face | |
| HP:0000154 | Wide mouth | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 30685520[PMID]_30541864[PMID]_30789692[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/544254
- This record as JSON: /data/d/544254.json