ORPHA:243343
Dimethylglycine dehydrogenase deficiency
Synonyms: DMG dehydrogenase deficiency · DMGDH deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dimethylglycine dehydrogenase deficiency | DMG dehydrogenase deficiency · DMGDH deficiency |
| fr | Déficit en diméthylglycine déshydrogénase | Déficit en DMG déshydrogénase · Déficit en DMGDH |
| de | Dimethylglycin-Dehydrogenase-Mangel | |
| es | Deficiencia de dimetilglicina deshidrogenasa | Deficiencia de DMG deshidrogenasa |
| it | Deficit di dimetilglicina deidrogenasi | Deficit di DMG deidrogenasi · Deficit di DMGDH |
| nl | Deficiëntie van dimethylglycinedehydrogenase | DMGDH-deficiëntie · Deficiëntie van DMG-dehydrogenase |
| pt | Deficiência de dimetilglicina desidrogenase | |
| pl | Niedobór dehydrogenazy dimetyloglicyny | Niedobór dehydrogenazy DMG · Niedobór DMGDH |
| cs | Deficit dimethylglycindehydrogenázy | Deficit DMG dehydrogenázy · DMGDC deficit |
| uk | Дефіцит диметилгліциндегідрогенази | Дефіцит DMG дегідрогенази · Дефіцит DMGDH |
| zh | 二甲基脱氢酶缺乏症 | 二甲基脱氢酶缺乏症 |
| tr | Dimetilglisin dehidrojenaz eksikliği | DMGDH eksikliği · DMG dehidrojenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605850 | E | validated | |
| ICD-10 | E72.5 | NTBT | attributed | validated |
| ICD-11 | 5C50.7Y | NTBT | attributed | validated |
| MONDO | 0011610 | E | validated | |
| MeSH | C565278 | E | validated | |
| UMLS | C1853892 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79194Disorder of serine or glycine metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DMGDH | Disease-causing germline mutation(s) in | Assessed | HGNC:24475 | ENSG00000132837 | 605849 | 5q14.1 | dimethylglycine dehydrogenase | 11231903[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 10102904[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10102904[PMID] |
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
5 annotations · validated 2017-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0410020 | Fish odor | |
| HP:0003750 | Increased muscle fatiguability | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 10102904[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/243343
- This record as JSON: /data/d/243343.json