ORPHA:86309
DPAGT1-CDG
Synonyms: CDG syndrome type Ij · CDG-Ij · CDG1J · Carbohydrate deficient glycoprotein syndrome type Ij · Congenital disorder of glycosylation type 1j · Congenital disorder of glycosylation type Ij · Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene <i>DPAGT1 </i> (11q23.3).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DPAGT1-CDG | CDG syndrome type Ij · CDG-Ij · CDG1J · Carbohydrate deficient glycoprotein syndrome type Ij · Congenital disorder of glycosylation type 1j · Congenital disorder of glycosylation type Ij · Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency |
| fr | DPAGT1-CDG | Anomalie congénitale de la glycosylation type 1j · Anomalie congénitale de la glycosylation type Ij · CDG-Ij · CDG1J · Déficit en dolichyl-phosphate N-acetylgalactosamine phosphotransférase · Syndrome CDG type Ij · Syndrome des glycoprotéines déficientes en hydrates de carbone type Ij |
| de | DPAGT1-CDG | CDG-Ij · CDG-Syndrom Typ Ij · CDG1J · Dolichol-Phosphat N-Acetylglucosamin 1-Phosphat-Transferase-Mangel · Kohlenhydrat-defizientes Glykoprotein-Syndrom Ij · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ij |
| es | DPAGT1-CDG | CDG-Ij · CDG1J · Deficiencia de fosfotransferasa N-acetilglucosamina dolicil-fosfato · Síndrome CDG tipo Ij · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ij · Trastorno congénito de la glicosilación tipo 1j · Trastorno congénito de la glicosilación tipo Ij |
| it | DPAGT1-CDG | Disturbo congenito della glicosilazione, tipo 1j · Disturbo congenito della glicosilazione, tipo Ij · Sindrome CDG, tipo Ij · Sindrome delle glicoproteine carenti in carboidrati, tipo Ij · CDG-Ij · CDG1J · Deficit di dolichil-fosfato N-acetilgalattosamina fosfotransferasi |
| nl | DPAGT1-CDG | CDG-Ij · CDG-syndroom type Ij · CDG1J · Congenitale defecten van de glycosylering type 1j · Congenitale defecten van de glycosylering type Ij · Congenitale glycosylatiestoornis type 1j · Congenitale glycosylatiestoornis type Ij · Dolichylfosfaat N-acetylgalactosamine-fosfotransferasedeficiëntie · Koolhydraatdeficiënt glycoproteïne-syndroom type Ij |
| pt | DPAGT1-CDG | CDG-Ij · CDG1J · Deficiência de dolicil-fosfato N-acetilgalactosamina fosfotransferase · Doença congénita da glicosilação tipo 1j · Doença congénita da glicosilação tipo Ij · Síndrome CDG tipo Ij · Síndrome de proteína deficiente em carbohidratos tipo 1j |
| pl | DPAGT1-CDG | CDG1J · CDG-Ij · Niedobór fosfotransferazy dolicholofosforanu N-acetylogalaktozoaminy · Wrodzone zaburzenie glikozylacji 2j · Wrodzone zaburzenie glikozylacji IIj · Zespół CDG typu Ij · Zespół obniżonej glikozylacji glikoprotein typu Ij |
| cs | DPAGT1-CDG | CDG syndrom, typ Ij · CDG-Ij · CDG1J · Carbohydrate deficient glycoprotein syndrom type Ij · Vrozená porucha glykosylace, typ 1j · Vrozená porucha glykosylace, typ Ij · Deficit dolichyl-fosfát N-acetylgalaktosaminfosfotransferázy · Glykoproteinový syndrom deficitu sacharidů typu Ij |
| uk | DPAGT1-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ij · Синдром CDG, тип Ij · CDG1J · CDG-Ij · Вроджене порушення глікозилювання типу 1j · Вроджене порушення глікозилювання типу Ij · Дефіцит доліхіл-фосфат N-ацетилгалактозамінфосфотрансферази |
| zh | DRAGT1缺乏型先天性糖基化障碍 | 磷酸多糖- N-乙酰半乳糖胺磷酸转移酶缺乏症 |
| tr | DPAGT1-CDG | CDG1J · CDG-Ij · CDG sendromu tip Ij · Doğumsal glikozilasyon tipi 1j bozukluğu · Doğumsal glikozilasyon tipi Ij bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ij · Dolikil-fosfat N-asetilgalaktozamin fosfotransferaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608093 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0011964 | E | validated | |
| MeSH | C535748 | E | validated | |
| UMLS | C2931004 | E | validated | |
| GARD | 9837 | 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 (3):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:309347Disorder of protein N-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 |
|---|---|---|---|---|---|---|---|---|
| DPAGT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2995 | ENSG00000172269 | 191350 | 11q23.3 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 26033833 [PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26033833 [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
69 annotations · validated 2021-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000519 | Developmental cataract | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0000718 | Aggressive behavior | |
| HP:0012050 | Anasarca | |
| HP:0001903 | Anemia | |
| HP:0001166 | Arachnodactyly | |
| HP:0000483 | Astigmatism | |
| HP:0000717 | Autism | |
| HP:0008936 | Axial hypotonia | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0003429 | CNS hypomyelination | |
| HP:0012385 | Camptodactyly | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0030084 | Clinodactyly | |
| HP:0000750 | Delayed speech and language development | |
| HP:0012512 | Diffuse optic disc pallor | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0030213 | Emotional blunting | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0011097 | Epileptic spasm | |
| HP:0000577 | Exotropia | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0011153 | Focal motor seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002283 | Global brain atrophy | |
| HP:0002240 | Hepatomegaly | |
| HP:0001276 | Hypertonia | |
| HP:0000998 | Hypertrichosis | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001265 | Hyporeflexia | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0003186 | Inverted nipples | |
| HP:0009125 | Lipodystrophy | |
| HP:0000252 | Microcephaly | |
| HP:0000662 | Nyctalopia | |
| HP:0000639 | Nystagmus | |
| HP:0025534 | Ocular melanocytosis | |
| HP:0000648 | Optic atrophy | |
| HP:0000939 | Osteoporosis | |
| HP:0001657 | Prolonged QT interval | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0004855 | Reduced protein S activity | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0002650 | Scoliosis | |
| HP:0010781 | Skin dimple | |
| HP:0000486 | Strabismus | |
| HP:0001072 | Thickened skin | |
| Very rare (<4-1%) | ||
| HP:0001344 | Absent speech | |
| HP:0002304 | Akinesia | |
| HP:0001251 | Ataxia | |
| HP:0001558 | Decreased fetal movement | |
| HP:0001989 | Fetal akinesia sequence | |
| HP:0012168 | Head-banging | |
| HP:0000365 | Hearing impairment | |
| HP:0002540 | Inability to walk | |
| HP:0012172 | Stereotypical body rocking | |
| HP:0002401 | Stroke-like episode | |
| HP:0001337 | Tremor | |
Annotation source: 20301507[PMID]_30117111[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86309
- This record as JSON: /data/d/86309.json