ORPHA:544503
RNF13-related severe early-onset epileptic encephalopathy
Synonyms: RNF13-related severe EOEE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RNF13-related severe early-onset epileptic encephalopathy | RNF13-related severe EOEE |
| fr | Encéphalopathie épileptique sévère à début précoce associée à RNF13 | |
| de | Enzephalopathie, epileptische, frühinfantile, RNF13-assoziierte | RNF13-assoziierte schwere EOEE |
| es | Encefalopatía epiléptica grave de inicio precoz asociada al gen RNF13 | EOEE grave asociada al gen RNF13 |
| it | Encefalopatia epilettica grave ad esordio precoce correlata a RNF13 | |
| nl | RNF13-gerelateerde ernstige epileptische encefalopathie met vroege aanvang | RNF13-gerelateerde EOEE |
| pt | Encefalopatia epilética grave de início precoce RNF13-relacionada | |
| pl | Ciężka wczesna encefalopatia padaczkowa związana z RNF13 | = en |
| cs | RNF13-vázaná závažná epileptická encefalopatie s časným nástupem | RNF13-vázaná závažná EOEE |
| uk | Важка рання епілептична енцефалопатія, повязана з RNF13 | Тяжка ЕОЕЕ, повязана з RNF13 |
| zh | RNF13基因相关严重早发型癫痫性脑病 | = en |
| tr | RNF13 -ilişkili ağır erken başlangıçlı epileptik ensefalopati | RNF13-ilişkili ağır EOEE |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618379 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0034106 | E | validated | |
| UMLS | C5193065 | E | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNF13 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10057 | ENSG00000082996 | 609247 | 3q25.1 | ring finger protein 13 | 30595371[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 30595371[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30595371[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
49 annotations · validated 2020-06-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001276 | Hypertonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000023 | Inguinal hernia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0025373 | Interictal EEG abnormality | |
| HP:0000737 | Irritability | |
| HP:0000252 | Microcephaly | |
| HP:0011800 | Midface retrusion | |
| HP:0000341 | Narrow forehead | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0000711 | Restlessness | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000331 | Short chin | |
| HP:0003196 | Short nose | |
| HP:0001257 | Spasticity | |
| HP:0025405 | Visual fixation instability | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0040126 | Abnormal vitamin B12 level | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000518 | Cataract | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0012448 | Delayed myelination | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0012098 | Edema of the dorsum of feet | |
| HP:0007514 | Edema of the dorsum of hands | |
| HP:0011432 | Elevated maternal circulating alpha-fetoprotein concentration | |
| HP:0006094 | Finger joint hypermobility | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001385 | Hip dysplasia | |
| HP:0005072 | Hyperextensibility at wrists | |
| HP:0000668 | Hypodontia | |
| HP:0012469 | Infantile spasms | |
| HP:0001382 | Joint hypermobility | |
| HP:0006070 | Metacarpophalangeal joint contracture | |
| HP:0002164 | Nail dysplasia | |
| HP:0002098 | Respiratory distress | |
| HP:0100806 | Sepsis | |
| HP:0001182 | Tapered finger | |
Annotation source: 30595371[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/544503
- This record as JSON: /data/d/544503.json