Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Synonyms: ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypermethioninemia encephalopathy due to adenosine kinase deficiency | ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency |
| fr | Encéphalopathie associée à une hyperméthioninémie par déficit en adénosine kinase | Encéphalopathie associée à une hyperméthioninémie par déficit en ADK |
| de | Enzephalopathie bei Hypermethioninämie durch Adenosinkinase-Mangel | ADK-Hypermethioninämie · Hypermethioninämische Enzephalopathie durch ADK-Mangel |
| es | Encefalopatía con hipermetioninemia por deficiencia de adenosina quinasa | Encefalopatía con hipermetioninemia por deficiencia de ADK · Hipermetioninemia ADK |
| it | Encefalopatia associata a ipermetioninemia da deficit di adenosina chinasi | Encefalopatia associata a ipermetioninemia da deficit di ADK · Ipermetioninemia ADK |
| nl | Encefalopathie met hypermethioninemie door deficiëntie van adenosinekinase | ADK-hypermethioninemie · Encefalopathie met hypermethioninemie door ADK-deficiëntie |
| pt | Encefalopatia associada a hipermetioninemia por deficiência da adenosina cinase | Encefalopatia associada a hipermetioninemia por deficiência de ADK · Hipermetioninemia ADK |
| pl | Encefalopatia z hipermetioninemią z powodu niedoboru kinazy adenozyny | Encefalopatia z hipermetioninemią z powodu niedoboru ADK · Hipermetioninemia ADK |
| cs | Hypermethioninémie a encefalopatie způsobená deficitem adenozinkinázy | ADK hypermethioninémie · Hypermethioninémie a encefalopatie způsobená deficitem ADK |
| uk | Гіперметіонінемічна енцефалопатія внаслідок дефіциту аденозинкінази | Гіперметіонінемія АДК · Гіперметіонінемічна енцефалопатія внаслідок дефіциту АДК |
| zh | 腺苷激酶缺陷所致高蛋氨酸血症脑病 | ADK缺陷所致高蛋氨酸血症脑病 |
| tr | Adenozin kinaz eksikliğine bağlı hipermetiyoninemi ensefalopati | ADK hipermetioninemi · ADK eksikliğine bağlı hipermetioninemi ensefalopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614300 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| UMLS | C4706555 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:257 | ENSG00000156110 | 102750 | 10q22.2 | adenosine kinase | 21963049[PMID] |
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289290
- This record as JSON: /data/d/289290.json