ORPHA:3197
Hereditary hyperekplexia
Synonyms: Congenital stiff man syndrome · Familial startle disease · Hereditary hyperexplexia · Kok disease · Stiff baby syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary hyperekplexia | Congenital stiff man syndrome · Familial startle disease · Hereditary hyperexplexia · Kok disease · Stiff baby syndrome |
| fr | Hyperexplexie héréditaire | Hyperekplexie · Hyperekplexie héréditaire · Maladie de Kok · Maladie familiale du sursaut · Syndrome "stiff baby" · Syndrome "stiff man" congénital |
| de | Hyperekplexie, hereditäre | Kok-Krankheit · Startle-Krankheit, familiäre · Stiff-Baby-Syndrom · Stiff-Man-Syndrom, kongenitales |
| es | Hiperekplexia hereditaria | Hiperplexia hereditaria · Síndrome congénito del hombre rígido · Síndrome del bebé rígido · Enfermedad de Kok · Enfermedad del sobresalto familiar · Hiperecplexia hereditaria |
| it | Iperekplexia ereditaria | Iperekplexia · Iperexplexia ereditaria · Malattia dei sussulti familiare · Malattia di Kok · Sindrome congenita dell'uomo rigido · Sindrome del neonato rigido |
| nl | Erfelijke hyperekplexie | Congenitaal stiff man-syndroom · Congenitaal stijve man-syndroom · Familiale schrikziekte · Hereditaire hyperekplexie · Stiff baby-syndroom · Stijve baby-syndroom · Ziekte van Kok |
| pt | Hiperecplexia hereditária | Doença "startle" familiar · Doença de Kok · Hiperecplexia hereditária · Síndrome bebé rígido · Síndrome homem rígido congénito |
| pl | Hiperekpleksja dziedziczna | Choroba Koka · Familial startle disease · Hiperekpleksja · Hiperekpleksja dziedziczna · Wrodzony zespół sztywności uogólnionej · Zespół sztywnego dziecka |
| cs | Defekt glycinového receptoru | Vrozený syndrom celkového ztuhnutí · Familiární choroba s úlekovými reakcemi · Hereditární hyperekplexie · Kokova nemoc |
| uk | Спадкова гіперекплексія | Синдром вродженої скутості людини · Родинна хвороба тремтіння · Спадкова гіперчутливість · Хвороба Кок · Синдром скованого немовляти |
| zh | 遗传性肌张力过度 | 先天性僵人综合征 |
| tr | Kalıtsal hiperekpleksi | Kok hastalığı · Katı bebek sendromu · Ailesel irkilme hastalığı · Kalıtsal hiperekspleksi · Doğumsal katı adam sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 149400 | E | validated | |
| OMIM | 614618 | BTNT | validated | |
| OMIM | 614619 | BTNT | validated | |
| OMIM | 618011 | BTNT | validated | |
| ICD-10 | G25.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0021022 | E | validated | |
| MeSH | C538136 | E | validated | |
| UMLS | C1835614 | E | validated | |
| GARD | 3129 | 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 (6):
- ORPHA:306773Hyperekplexia
rare neurological diseases - ORPHA:79219Metabolic disease involving other neurotransmitter deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:98747Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:183521Rare genetic movement disorder
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98122OBSOLETE: Channelopathy due to a neuronal glycine receptor defect referred to · inactive
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATAD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25903 | ENSG00000138138 | 614452 | 10q23.31 | ATPase family AAA domain containing 1 | 29390050[PMID] |
| GLRA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4326 | ENSG00000145888 | 138491 | 5q33.1 | glycine receptor alpha 1 | 20301437[PMID] |
| GLRB | Disease-causing germline mutation(s) in | Assessed | HGNC:4329 | ENSG00000109738 | 138492 | 4q32.1 | glycine receptor beta | 20301437[PMID] |
| GPHN | Disease-causing germline mutation(s) in | Assessed | HGNC:15465 | ENSG00000171723 | 603930 | 14q23.3 | gephyrin | 20301437[PMID] |
| SLC6A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:11051 | ENSG00000165970 | 604159 | 11p15.1 | solute carrier family 6 member 5 | 20301437[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
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HPO phenotypes
21 annotations · validated 2017-10-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001251 | Ataxia | |
| HP:0100633 | Esophagitis | |
| HP:0002380 | Fasciculations | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002036 | Hiatus hernia | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0001387 | Joint stiffness | |
| HP:0003552 | Muscle stiffness | |
| HP:0001336 | Myoclonus | |
| HP:0002063 | Rigidity | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0100790 | Hernia | |
| HP:0002360 | Sleep abnormality | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0002827 | Hip dislocation | |
| HP:0001249 | Intellectual disability | |
| HP:0001373 | Joint dislocation | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3197
- This record as JSON: /data/d/3197.json