ORPHA:79321
ALG3-CDG
Synonyms: CDG syndrome type Id · CDG-Id · CDG1D · Carbohydrate deficient glycoprotein syndrome type Id · Congenital disorder of glycosylation type 1d · Congenital disorder of glycosylation type Id · Mannosyltransferase 6 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene <i>ALG3</i> (3q27.3).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALG3-CDG | CDG syndrome type Id · CDG-Id · CDG1D · Carbohydrate deficient glycoprotein syndrome type Id · Congenital disorder of glycosylation type 1d · Congenital disorder of glycosylation type Id · Mannosyltransferase 6 deficiency |
| fr | ALG3-CDG | Anomalie congénitale de la glycosylation type 1d · Anomalie congénitale de la glycosylation type Id · CDG-Id · CDG1D · Déficit en mannosyltransférase 6 · Syndrome CDG type Id · Syndrome des glycoprotéines déficientes en hydrates de carbone type Id |
| de | ALG3-CDG | CDG-Id · CDG-Syndrom Typ Id · CDG1D · Kohlenhydrat-defizientes Glykoprotein-Syndrom Id · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Id · Mannosyltransferase 6-Mangel |
| es | ALG3-CDG | CDG-Id · CDG1D · Deficiencia de manosiltransferasa 6 · Síndrome CDG tipo Id · Síndrome de glicoproteínas deficientes en carbohidratos tipo Id · Trastorno congénito de la glicosilación tipo 1d · Trastorno congénito de la glicosilación tipo Id |
| it | ALG3-CDG | CDG-Id · CDG1D · Deficit di mannosiltransferasi 6 · Disturbo congenito della glicosilazione, tipo 1d · Disturbo congenito della glicosilazione, tipo Id · Sindrome CDG, tipo Id · Sindrome delle glicoproteine carenti in carboidrati, tipo Id |
| nl | ALG3-CDG | CDG-Id · CDG-syndroom type Id · CDG1D · Congenitale defecten van de glycosylering type 1d · Congenitale defecten van de glycosylering type Id · Congenitale glycosylatiestoornis type 1d · Congenitale glycosylatiestoornis type Id · Koolhydraatdeficiënt glycoproteïne-syndroom type Id · Mannosyltransferase 6-deficiëntie |
| pt | ALG3-CDG | CDG-Id · CDG1D · Deficiência em manosiltransferase 6 · Doença congénita da glicosilação tipo 1d · Doença congénita da glicosilação tipo Id · Síndrome CDG tipo Id · Síndrome de glicoproteína deficiente em carbohidratos tipo Id |
| pl | ALG3-CDG | CDG1D · CDG-Id · Niedobór mannozylotransferazy 6 · Wrodzone zaburzenie glikozylacji typu 1d · Wrodzone zaburzenie glikozylacji typu Id · Zespół CDG typu Id · Zespół obniżonej glikozylacji glikoprotein typu Id |
| cs | ALG3-CDG | CDG syndrom, typ Id · CDG-Id · CDG1D · Carbohydrate deficient glycoprotein syndrom type Id · Vrozená porucha glykosylace, typ 1d · Vrozená porucha glykosylace, typ Id · Deficit mannosyltransferázy 6 · Syndrom s deficitem karbohydrátového glykoproteinu typ Id |
| uk | ALG3-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром, тип Id · Тип синдрому CDG Id · CDG1D · CDG-Id · Вроджене порушення глікозилювання типу 1d · Вроджене порушення типу глікозилювання Id · Дефіцит маннозилтрансферази 6 |
| zh | 先天性糖基化障碍1d型 | 碳水化合物缺乏糖蛋白综合征Id型 |
| tr | ALG3-CDG | CDG1D · CDG-Id · CDG sendromu tip Id · Mannoziltransferaz 6 eksikliği · Glikozilasyon tip 1d'nin doğumsal bozukluğu · Glikozilasyon tip Id'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Id |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601110 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0010998 | E | validated | |
| MeSH | C535742 | E | validated | |
| UMLS | C1832736 | E | validated | |
| GARD | 9827 | 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALG3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23056 | ENSG00000214160 | 608750 | 3q27.1 | ALG3 alpha-1,3- mannosyltransferase | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 28122681[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28122681[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
45 annotations · validated 2021-09-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Very frequent (99-80%) | ||
| HP:0002060 | Abnormal cerebral morphology | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0002719 | Recurrent infections | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0002813 | Abnormality of limb bone morphology | |
| HP:0040064 | Abnormality of limbs | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000366 | Abnormality of the nose | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001410 | Decreased liver function | |
| HP:0000365 | Hearing impairment | |
| HP:0000252 | Microcephaly | |
| HP:0000938 | Osteopenia | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001871 | Abnormality of blood and blood-forming tissues | |
| HP:0012444 | Brain atrophy | |
| HP:0001332 | Dystonia | |
| HP:0001276 | Hypertonia | |
| HP:0003186 | Inverted nipples | |
| HP:0045005 | Neural tube defect | |
| HP:0001285 | Spastic tetraparesis | |
| Very rare (<4-1%) | ||
| HP:0000172 | Abnormality of the uvula | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000518 | Cataract | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0012305 | Coarctation of the descending aortic arch | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000218 | High palate | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0009125 | Lipodystrophy | |
| HP:0000158 | Macroglossia | |
| HP:0005871 | Metaphyseal chondrodysplasia | |
| HP:0000639 | Nystagmus | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0012157 | Subcortical cerebral atrophy | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 31067009[PMID]_33583022[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79321
- This record as JSON: /data/d/79321.json