MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome | |
| fr | Syndrome de retard de développement-microcéphalie-petite taille-épilepsie associé à MTHFS | |
| de | MTHFS-assoziierte Entwicklungsverzögerung-Mikrozephalie-Kleinwuchs-Epilepsie-Syndrom | |
| es | Síndrome de retraso del desarrollo-microcefalia-talla baja-epilepsia asociado a MTHFS | |
| it | Sindrome da ritardo dello sviluppo, microcefalia, bassa statura ed epilessia correlata a MTHFS | |
| nl | MTHFS-gerelateerd syndroom van ontwikkelingsachterstand - microcefalie - kleine gestalte - epilepsie | |
| pt | Síndrome de perturbação do desenvolvimento-microcefalia-baixa estatura-epilepsia MTHFS-relacionada | |
| pl | Zespół opóźnionego rozwoju, małogłowia, niskiego wzrostu oraz padaczki związany z MTHFS | |
| cs | Syndrom zahrnující vývojové opoždění související s MTHFS, mikrocefalii, nízký vzrůst a epilepsii | |
| uk | MTHFS-повязаний синдром затримки розвитку-мікроцефалії-низькорослості-епілепсії | |
| zh | MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome | |
| tr | MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618367 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.Y | NTBT | attributed | validated |
| MONDO | 0032705 | E | validated | |
| UMLS | C5193057 | 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 (5):
- ORPHA:285657Disorder of folate metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225713Other metabolic disease with epilepsy
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 |
|---|---|---|---|---|---|---|---|---|
| MTHFS | Disease-causing germline mutation(s) in | Assessed | HGNC:7437 | ENSG00000136371 | 604197 | 15q25.1 | methenyltetrahydrofolate synthetase | 30031689[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 30031689[PMID]_31844630[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30031689[PMID]_31844630[PMID]_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/597874
- This record as JSON: /data/d/597874.json