ORPHA:263494
DPM3-CDG
Synonyms: CDG syndrome type Io · CDG-Io · CDG1O · Carbohydrate deficient glycoprotein syndrome type Io · Congenital disorder of glycosylation type 1o · Congenital disorder of glycosylation type Io
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DPM3-CDG | CDG syndrome type Io · CDG-Io · CDG1O · Carbohydrate deficient glycoprotein syndrome type Io · Congenital disorder of glycosylation type 1o · Congenital disorder of glycosylation type Io |
| fr | DPM3-CDG | Anomalie congénitale de la glycosylation type 1o · Anomalie congénitale de la glycosylation type Io · CDG-Io · CDG1O · Syndrome CDG type Io · Syndrome des glycoprotéines déficientes en hydrates de carbone type Io |
| de | DPM3-CDG | CDG (Congenital Disorder of Glycosylation) Typ Io · CDG-Io · CDG-Syndrom Typ Io · CDG1O · Kohlenhydrat-defizientes Glykoprotein-Syndrom Io · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Io |
| es | DPM3-CDG | CDG-Io · CDG1O · Síndrome CDG tipo Io · Síndrome de glicoproteínas deficientes en carbohidratos tipo lo · Trastorno congénito de la glicosilación tipo 1o · Trastorno congénito de la glicosilación tipo Io |
| it | DPM3-CDG | CDG-Io · CDG1O · Disturbo congenito della glicosilazione, tipo Io · Sindrome CDG, tipo Io · Sindrome delle glicoproteine carenti in carboidrati, tipo Io |
| nl | DPM3-CDG | CDG1O · Congenitale defecten van de glycosylering type 1o · Congenitale defecten van de glycosylering type Io · Congenitale glycosylatiestoornis type 1o · Congenitale glycosylatiestoornis type Io · Koolhydraatdeficiënt glycoproteïne syndroom type Io · CDG-Io · CDG-syndroom type Io |
| pt | SíndromeCDG, tipo Io | |
| pl | DPM3-CDG | CDG1O · CDG-Io · Zespół CDG typu Io · Wrodzone zaburzenie glikozylacji typu 1o · Wrodzone zaburzenie glikozylacji typu Io · Zespół obniżonej glikozylacji glikoprotein typu Io |
| cs | DPM3-CDG | CDG syndrom, typ Io · CDG-Io · CDG1O · Vrozená porucha glykosylace, typ Io |
| uk | DPM3-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Io · Синдром CDG, тип Io · CDG1O · CDG-Io · Вроджене порушення глікозилювання типу 1о · Вроджене порушення глікозилювання типу Io |
| zh | DPM3基因型先天性糖基化障碍 | 糖基化缺陷糖蛋白综合征Io型 |
| tr | DPM3-CDG | CDG1O · CDG-Io · CDG sendromu tip Io · Doğumsal glikozilasyon bozukluğu tip 1o · Doğumsal glikozilasyon bozukluğu tip Io · Karbonhidrat eksikliği olan glikoprotein sendromu tip Io |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612937 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0013049 | E | validated | |
| MeSH | C567857 | E | validated | |
| UMLS | C2752007 | E | validated | |
| GARD | 12395 | 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 (5):
- ORPHA:371176Congenital disorder of glycosylation with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:370953Congenital muscular dystrophy due to dystroglycanopathy
rare genetic diseases; rare neurological diseases - ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DPM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3007 | ENSG00000179085 | 605951 | 1q22 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | 20301507[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 19576565[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19576565[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.
6
HPO phenotypes
15 annotations · validated 2017-11-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012363 | Decreased sialylation of O-linked protein glycosylation | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0100749 | Chest pain | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0001324 | Muscle weakness | |
| HP:0003560 | Muscular dystrophy | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0001763 | Pes planus | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0002401 | Stroke-like episode | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 19576565[PMID]_10835346[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263494
- This record as JSON: /data/d/263494.json