ORPHA:289863
Atypical glycine encephalopathy
Synonyms: Atypical non-ketotic hyperglycinemia · Atypical NKA
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Unknown
- Age of onset
- All ages
- Status
- active
A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical glycine encephalopathy | Atypical non-ketotic hyperglycinemia · Atypical NKA |
| fr | Encéphalopathie glycinique atypique | Hyperglycinémie non cétosique atypique · NKA atypique |
| de | Glycin-Enzephalopathie, atypische | Atypische nicht ketotische Hyperglycinämie · NKH, atypisch |
| es | Encefalopatía por glicina atípica | Hiperglicemia no cetósica atípica · NKA atípica |
| it | Encefalopatia da glicina, atipica | Iperglicinemia non chetotica atipica · NKA atipica |
| nl | Atypische glycine-encefalopathie | Atypische NKA · Atypische non-ketotische hyperglycinemie |
| pt | Encefalopatia atípica por glicína | |
| pl | Atypowa encefalopatia glicynowa | Atypowa hiperglicynemia nieketonowa · Atypowa NKA |
| cs | Atypická glycinová encefalopatie | Atypická NKA · Atypická neketotická hyperglycinémie |
| uk | Атипова гліцинова енцефалопатія | Нетипова НКГ · Атипова некетотична гіпергліцинемія |
| zh | 非典型甘氨酸脑病 | 非典型非酮症高血糖 |
| tr | Atipik glisin ensefalopatisi | Atipik NKA · Atipik ketotik olmayan hiperglisinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605899 | NTBT | validated | |
| OMIM | 617301 | NTBT | validated | |
| OMIM | 620398 | NTBT | validated | |
| OMIM | 620423 | NTBT | validated | |
| ICD-10 | E72.5 | NTBT | attributed | validated |
| ICD-11 | 5C50.70 | NTBT | index | validated |
| MONDO | 0015010 | E | validated | |
| UMLS | C5548198 | 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 (1):
- ORPHA:407Glycine encephalopathy
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AMT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:473 | ENSG00000145020 | 238310 | 3p21.31 | aminomethyltransferase | 20301531[PMID] |
| GCSH | Disease-causing germline mutation(s) in | Assessed | HGNC:4208 | ENSG00000140905 | 238330 | 16q23.2 | glycine cleavage system protein H | 20301531[PMID] |
| GLDC | Disease-causing germline mutation(s) in | Assessed | HGNC:4313 | ENSG00000178445 | 238300 | 9p24.1 | glycine decarboxylase | 20301531[PMID] |
| SLC6A9 | Disease-causing germline mutation(s) in | Assessed | HGNC:11056 | ENSG00000196517 | 601019 | 1p34.1 | solute carrier family 6 member 9 | 27773429[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289863
- This record as JSON: /data/d/289863.json