ORPHA:697160
Infantile epileptic spasms syndrome
Synonyms: IESS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile epileptic spasms syndrome | IESS |
| fr | Syndrome des spasmes infantiles | SSI |
| de | Infantile Spasmen | BNS-Epilepsie · Blitz-Nick-Salaam Epilepsie · Blitz-Nick-Salaam-Krämpfe · IESS |
| es | Síndrome de crisis epilépticas infantiles | = en |
| it | Sindrome da spasmi epilettici infantili | = en |
| nl | Infantiele epileptische spasmen-syndroom | = en |
| pt | Infantile epileptic spasms syndrome | |
| pl | Infantile epileptic spasms syndrome | = en |
| cs | Infantile epileptic spasms syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300672 | BTNT | validated | |
| OMIM | 308350 | BTNT | validated | |
| OMIM | 613477 | BTNT | validated | |
| OMIM | 613722 | BTNT | validated | |
| OMIM | 616139 | BTNT | validated | |
| OMIM | 616341 | BTNT | validated | |
| OMIM | 617065 | BTNT | validated | |
| OMIM | 617929 | BTNT | validated | |
| OMIM | 618298 | BTNT | validated | |
| ICD-10 | G40.4 | NTBT | inclusion | validated |
| ICD-11 | 8A62.0 | E | specific | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3451West syndrome moved to · inactive
4
Genes
13 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRIN2B | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4586 | ENSG00000273079 | 138252 | 12p13.1 | glutamate ionotropic receptor NMDA type subunit 2B | 24272827[PMID] |
| ARX | Disease-causing germline mutation(s) in | Assessed | HGNC:18060 | ENSG00000004848 | 300382 | Xp21.3 | aristaless related homeobox | 20506206[PMID]_22787626[PMID] |
| CDKL5 | Disease-causing germline mutation(s) in | Assessed | HGNC:11411 | ENSG00000008086 | 300203 | Xp22.13 | cyclin dependent kinase like 5 | 18564362[PMID]_22196487[PMID]_22787626[PMID] |
| CNPY3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11968 | ENSG00000137161 | 610774 | 6p21.1 | canopy FGF signaling regulator 3 | 29394991[PMID] |
| GUF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25799 | ENSG00000151806 | 617064 | 4p12 | GTP binding elongation factor GUF1 | 26486472[PMID] |
| NTRK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8032 | ENSG00000148053 | 600456 | 9q21.33 | neurotrophic receptor tyrosine kinase 2 | 29100083[PMID] |
| PHACTR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20990 | ENSG00000112137 | 608723 | 6p24.1 | phosphatase and actin regulator 1 | 30256902[PMID] |
| PIGA | Disease-causing germline mutation(s) in | Assessed | HGNC:8957 | ENSG00000165195 | 311770 | Xp22.2 | phosphatidylinositol glycan anchor biosynthesis class A | 24357517[PMID] |
| PLCB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15917 | ENSG00000182621 | 607120 | 20p12.3 | phospholipase C beta 1 | 20833646[PMID]_22196487[PMID] |
| SCN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:10588 | ENSG00000136531 | 182390 | 2q24.3 | sodium voltage-gated channel alpha subunit 2 | 23935176[PMID] |
| SIK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11142 | ENSG00000142178 | 605705 | 21q22.3 | salt inducible kinase 1 | 25839329[PMID] |
| SPTAN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11273 | ENSG00000197694 | 182810 | 9q34.11 | spectrin alpha, non-erythrocytic 1 | 22196487[PMID]_18065176[PMID] |
| WDR45 | Disease-causing germline mutation(s) in | Assessed | HGNC:28912 | ENSG00000196998 | 300526 | Xp11.23 | WD repeat domain 45 | 27030146[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | 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.
6
HPO phenotypes
6 annotations · validated 2017-09-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002376 | Developmental regression | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0012469 | Infantile spasms | |
| HP:0001336 | Myoclonus | |
| Frequent (79-30%) | ||
| HP:0011121 | Abnormal skin morphology | |
| HP:0000707 | Abnormality of the nervous system | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28846304[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/697160
- This record as JSON: /data/d/697160.json