ORPHA:79323
MPDU1-CDG
Synonyms: CDG syndrome type If · CDG-If · CDG1F · Carbohydrate deficient glycoprotein syndrome type If · Congenital disorder of glycosylation type 1f · Congenital disorder of glycosylation type If
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder of multiple-pathway glycosylation characterised by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MPDU1-CDG | CDG syndrome type If · CDG-If · CDG1F · Carbohydrate deficient glycoprotein syndrome type If · Congenital disorder of glycosylation type 1f · Congenital disorder of glycosylation type If |
| fr | MPDU1-CDG | Anomalie congénitale de la glycosylation type 1f · Anomalie congénitale de la glycosylation type If · CDG-If · CDG1F · Syndrome CDG type If · Syndrome des glycoprotéines déficientes en hydrates de carbone type If |
| de | MPDU1-CDG | CDG-If · CDG-Syndrom Typ If · CDG1F · Kohlenhydrat-defizientes Glykoprotein-Syndrom If · Kongenitaler Defekt der Glycoproteinbiosynthese Typ If |
| es | MPDU1-CDG | Síndrome CDG tipo If · Síndrome de glicoproteínas deficientes en carbohidratos tipo If · Trastorno congénito de la glicosilación tipo 1f · Trastorno congénito de la glicosilación tipo If · CDG-If · CDG1F |
| it | MPDU1-CDG | CDG-If · CDG1F · Disturbo congenito della glicosilazione, tipo 1f · Disturbo congenito della glicosilazione, tipo If · Sindrome CDG, tipo If · Sindrome delle glicoproteine carenti in carboidrati, tipo If |
| nl | MPDU1-CDG | CDG-If · CDG-syndroom type If · CDG1F · Congenitale defecten van de glycosylering type 1f · Congenitale defecten van de glycosylering type If · Congenitale glycosylatiestoornis type 1f · Congenitale glycosylatiestoornis type If · Koolhydraatdeficiënt glycoproteïne-syndroom type If |
| pt | MPDU1-CDG | CDG-If · CDG1F · Doença congénita da glicosilação tipo 1f · Doença congénita da glicosilação tipo If · Síndrome CDG tipo If · Síndrome de glicoproteína deficiente em carbohidratos tipo If |
| pl | MPDU1-CDG | CDG1F · CDG-If · Wrodzone zaburzenie glikozylacji typu 1f · Wrodzone zaburzenie glikozylacji typu If · Zespół CDG typu If · Zespół obniżonej glikozylacji glikoprotein typu If |
| cs | MPDU1-CDG | CDG syndrom, typ If · CDG-If · CDG1F · Carbohydrate deficient glycoprotein syndrom type If · Vrozená porucha glykosylace, typ 1f · Vrozená porucha glykosylace, typ If · Syndrom s deficitem karbohydrátového glykoproteinu typ If |
| uk | MPDU1-CDG | Вуглеводно-дефіцитний глікопротеїновий тип синдрому If · Синдром CDG тип If · CDG1F · CDG-If · Вроджене порушення глікозилювання типу 1f · Вроджене порушення типу глікозилювання Якщо |
| zh | 先天性糖基化障碍1f型 | 碳水化合物缺乏糖蛋白综合征If型 |
| tr | MPDU1-CDG | CDG1F · CDG-If · CDG sendromu tip If · Glikozilasyon tip 1f'nin doğumsal bozukluğu · Glikozilasyon tip If'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tipi If |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609180 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | index | validated |
| MONDO | 0012211 | E | validated | |
| MeSH | C535744 | E | validated | |
| UMLS | C1836669 | E | validated | |
| GARD | 9832 | 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 (4):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin 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 |
|---|---|---|---|---|---|---|---|---|
| MPDU1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7207 | ENSG00000129255 | 604041 | 17p13.1 | mannose-P-dolichol utilization defect 1 | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28122681[PMID]_28940310[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28122681[PMID]_28940310[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
26 annotations · validated 2021-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0003642 | Type I transferrin isoform profile | |
| Frequent (79-30%) | ||
| HP:0008947 | Floppy infant | |
| Occasional (29-5%) | ||
| HP:0008529 | Absence of acoustic reflex | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0025474 | Erythematous plaque | |
| HP:0011968 | Feeding difficulties | |
| HP:0001276 | Hypertonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0008064 | Ichthyosis | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0000648 | Optic atrophy | |
| HP:0000242 | Parietal bossing | |
| HP:0005478 | Prominent frontal sinuses | |
| HP:0000803 | Renal cortical cysts | |
| HP:0040189 | Scaling skin | |
| HP:0001250 | Seizure | |
| HP:0000233 | Thin vermilion border | |
| HP:0007965 | Undetectable visual evoked potentials | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000260 | Wide anterior fontanel | |
| HP:0012704 | Widened subarachnoid space | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 11733564[PMID]_28484880[PMID]_28122681[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79323
- This record as JSON: /data/d/79323.json