Guanidinoacetate methyltransferase deficiency
Synonyms: GAMT deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Guanidinoacetate methyltransferase deficiency | GAMT deficiency |
| fr | Déficit en guanidinoacétate méthyltransférase | Déficit en GAMT |
| de | Guanidinoacetat-Methyltransferase-Mangel | GAMT-Mangel |
| es | Deficiencia de guanidinoacetato metiltransferasa | Deficiencia GAMT |
| it | Deficit di guanidinoacetato metiltransferasi | Deficit di GAMT |
| nl | Guanidinoacetaat-methyltransferasedeficiëntie | GAMT-deficiëntie |
| pt | Deficiência de guanidinoacetato metiltransferase | Deficiência cerebral de creatina · Deficiência de GAMT |
| pl | Deficyt metylotransferazy kwasu guanidynooctowego | Niedobór GAMT |
| cs | Deficit guanidinoacetát methyltransferázy | GAMT deficit |
| uk | Дефіцит гуанідиноацетатметилтрансферази | Дефіцит GAMT |
| zh | 乙酸胍转甲基酶缺乏症 | 乙酸胍转甲基酶缺乏症 |
| tr | Guanidinoasetat metiltransferaz eksikliği | GAMT eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612736 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.4 | NTBT | index | validated |
| MONDO | 0012999 | E | validated | |
| MeSH | C537622 | E | validated | |
| UMLS | C0574080 | E | validated | |
| GARD | 2578 | 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 (3):
- ORPHA:79172Creatine deficiency syndrome
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GAMT | Disease-causing germline mutation(s) in | Assessed | HGNC:4136 | ENSG00000130005 | 601240 | 19p13.3 | guanidinoacetate N-methyltransferase | 20301745[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | 20301745[PMID] | |
| 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.
HPO phenotypes
22 annotations · validated 2019-09-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0100022 | Abnormality of movement | |
| HP:0000708 | Atypical behavior | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002465 | Poor speech | |
| HP:0007153 | Progressive extrapyramidal movement disorder | |
| HP:0011344 | Severe global developmental delay | |
| Occasional (29-5%) | ||
| HP:0002457 | Abnormal head movements | |
| HP:0000718 | Aggressive behavior | |
| HP:0001251 | Ataxia | |
| HP:0002305 | Athetosis | |
| HP:0010819 | Atonic seizure | |
| HP:0000717 | Autism | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002072 | Chorea | |
| HP:0001332 | Dystonia | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0000752 | Hyperactivity | |
| HP:0100716 | Self-injurious behavior | |
| Very rare (<4-1%) | ||
| HP:0001252 | Hypotonia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 78088440[PMID]_8651275[PMID]_9386672[PMID]_15651030[PMID]_20301745[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/382
- This record as JSON: /data/d/382.json