ORPHA:289860
Infantile glycine encephalopathy
Synonyms: Infantile NKH · Infantile non-ketotic hyperglycinemia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile glycine encephalopathy | Infantile NKH · Infantile non-ketotic hyperglycinemia |
| fr | Encéphalopathie glycinique infantile | Hyperglycinémie non cétosique infantile · NKH infantile |
| de | Glycin-Enzephalopathie, infantile | Infantile nicht ketotische Hyperglycinämie · NKH, infantil |
| es | Encefalopatía por glicina infantil | Hiperglicemia no cetósica infantil · NKH infantil |
| it | Encefalopatia da glicina, infantile | Iperglicinemia non chetotica infantile · NKH infantile |
| nl | Infantiele glycine-encefalopathie | Infantiele NKH · Infantiele non-ketotische hyperglycinemie |
| pt | Encefalopatia por glicina da infância | |
| pl | Dziecięca encefalopatia glicynowa | Dziecięca hiperglicynemia nieketonowa · NKH noworodków |
| cs | Glycinová encefalopatie s manifestací v kojeneckém věku | Kojenecká NKH · Neketotická hyperglycinémie s manifestací v kojeneckém věku |
| uk | Інфантильна гліцинова енцефалопатія | Інфантильний НКГ · Інфантильна некетотична гіпергліцинемія |
| zh | 婴儿甘氨酸脑病 | 婴儿非酮症高血糖 |
| tr | İnfantil glisin ensefalopatisi | İnfantil NKH · Infantil ketotik olmayan hiperglisinemi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605899 | 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 | 0017354 | E | validated | |
| UMLS | C5548209 | 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 | 27481395[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/289860
- This record as JSON: /data/d/289860.json