ORPHA:79322
DPM1-CDG
Synonyms: CDG syndrome type Ie · CDG-Ie · CDG1E · Carbohydrate deficient glycoprotein syndrome type Ie · Congenital disorder of glycosylation type 1e · Congenital disorder of glycosylation type Ie · Dol-P-mannosyltransferase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder of multiple glycosylation pathways characterized by global developmental delay, motor skills delay, hypotonia, seizures, microcephaly and eye abnormalities (including retinopathy, nystagmus, strabismus) with varying onset and severity. Additional clinical features may include peripheral neuropathy, dysmorphic features (facial and limb abnormalities), ataxia and severe gastrointestinal involvement.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DPM1-CDG | CDG syndrome type Ie · CDG-Ie · CDG1E · Carbohydrate deficient glycoprotein syndrome type Ie · Congenital disorder of glycosylation type 1e · Congenital disorder of glycosylation type Ie · Dol-P-mannosyltransferase deficiency |
| fr | DPM1-CDG | Anomalie congénitale de la glycosylation type 1e · Anomalie congénitale de la glycosylation type Ie · CDG-Ie · CDG1E · Déficit en Dol-P-mannosyltransférase · Syndrome CDG type Ie · Syndrome des glycoprotéines déficientes en hydrates de carbone type Ie |
| de | DPM1-CDG | CDG-Ie · CDG-Syndrom Typ Ie · CDG1E · Dol-P-Mannosyltransferase-Mangel · Kohlenhydrat-defizientes Glykoprotein-Syndrom Ie · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ie |
| es | DPM1-CDG | CDG-Ie · CDG1E · Deficiencia de Dol-P-manosiltransferasa · Síndrome CDG tipo Ie · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ie · Trastorno congénito de la glicosilación tipo 1e · Trastorno congénito de la glicosilación tipo Ie |
| it | DPM1-CDG | CDG1E · Deficit di Dol-P-mannosiltransferasi · Disturbo congenito della glicosilazione, tipo 1e · Disturbo congenito della glicosilazione, tipo Ie · Sindrome CDG, tipo Ie · Sindrome delle glicoproteine carenti in carboidrati, tipo Ie · CDG-Ie |
| nl | DPM1-CDG | CDG-Ie · CDG-syndroom type Ie · CDG1E · Congenitale defecten van de glycosylering type 1e · Congenitale defecten van de glycosylering type Ie · Congenitale glycosylatiestoornis type 1e · Congenitale glycosylatiestoornis type Ie · Dol-P-mannosyltransferasedeficiëntie · Koolhydraatdeficiënt glycoproteïne-syndroom type Ie |
| pt | DPM1-CDG | CDG-Ie · CDG1E · Deficiência de Dol-P-manosiltransferase · Doença congénita da glicosilação tipo 1e · Doença congénita da glicosilação tipo Ie · Síndrome CDG tipo Ie · Síndrome de glicoproteína deficiente em carbohidratos tipo le |
| pl | DPM1-CDG | CDG1E · CDG-Ie · Niedobór Dol-P-mannozylotransferazy · Wrodzone zaburzenie glikozylacji typu 1e · Wrodzone zaburzenie glikozylacji typu Ie · Zespół CDG typu Ie · Zespół obniżonej glikozylacji glikoprotein typu Ie |
| cs | DPM1-CDG | CDG syndrom, typ Ie · CDG-Ie · CDG1E · Carbohydrate deficient glycoprotein syndrom type Ie · Vrozená porucha glykosylace, typ 1e · Vrozená porucha glykosylace, typ Ie · Deficit Dol-P-mannosyltransferázy · Syndrom s deficitem karbohydrátového glykoproteinu typ Ie |
| uk | DPM1-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ie · Синдром CDG тип Ie · CDG1E · CDG-Ie · Вроджене порушення глікозилювання типу 1e · Вроджене порушення глікозилювання типу Ie · Дефіцит Dol-Р-манозилтрансферази |
| zh | 先天性糖基化障碍1e型 | 碳水化合物缺乏糖蛋白综合征Ie型 |
| tr | DPM1-CDG | CDG1E · CDG-Ie · CDG sendromu tip Ie · Dol-P-mannosiltransferaz eksikliği · Tip 1e'nin doğumsal bozukluğu · Doğumsal glikozilasyon tipi Ie bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ie |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608799 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | index | validated |
| MONDO | 0012123 | E | validated | |
| MeSH | C535743 | E | validated | |
| UMLS | C1837396 | E | validated | |
| GARD | 9831 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DPM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3005 | ENSG00000000419 | 603503 | 20q13.13 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 27481510[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27481510[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
59 annotations · validated 2021-09-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0008947 | Floppy infant | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0100321 | Abnormality of the dentate nucleus | |
| HP:0012448 | Delayed myelination | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0005543 | Reduced protein C activity | |
| HP:0004855 | Reduced protein S activity | |
| Occasional (29-5%) | ||
| HP:0025404 | Abnormal visual fixation | |
| HP:0001251 | Ataxia | |
| HP:0010819 | Atonic seizure | |
| HP:0012385 | Camptodactyly | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002014 | Diarrhea | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0011152 | Early onset absence seizures | |
| HP:0001298 | Encephalopathy | |
| HP:0000565 | Esotropia | |
| HP:0003241 | External genital hypoplasia | |
| HP:0005469 | Flat occiput | |
| HP:0000293 | Full cheeks | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0007333 | Hypoplasia of the frontal lobes | |
| HP:0003186 | Inverted nipples | |
| HP:0006380 | Knee flexion contracture | |
| HP:0009826 | Limb undergrowth | |
| HP:0001847 | Long hallux | |
| HP:0000347 | Micrognathia | |
| HP:0003560 | Muscular dystrophy | |
| HP:0002164 | Nail dysplasia | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0006879 | Pontocerebellar atrophy | |
| HP:0002057 | Prominent glabella | |
| HP:0000488 | Retinopathy | |
| HP:0001852 | Sandal gap | |
| HP:0000319 | Smooth philtrum | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000243 | Trigonocephaly | |
| HP:0010806 | U-Shaped upper lip vermilion | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 27481510[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79322
- This record as JSON: /data/d/79322.json