ORPHA:79320
ALG6-CDG
Synonyms: CDG syndrome type Ic · CDG-Ic · CDG1C · Carbohydrate deficient glycoprotein syndrome type Ic · Congenital disorder of glycosylation type 1c · Congenital disorder of glycosylation type Ic · Glucosyltransferase 1 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 feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene <i>ALG6</i> (1p31.3).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALG6-CDG | CDG syndrome type Ic · CDG-Ic · CDG1C · Carbohydrate deficient glycoprotein syndrome type Ic · Congenital disorder of glycosylation type 1c · Congenital disorder of glycosylation type Ic · Glucosyltransferase 1 deficiency |
| fr | ALG6-CDG | Anomalie congénitale de la glycosylation type 1c · Anomalie congénitale de la glycosylation type Ic · CDG-Ic · CDG1C · Déficit en glucosyltransférase 1 · Syndrome CDG type Ic · Syndrome des glycoprotéines déficientes en hydrates de carbone type Ic |
| de | ALG6-CDG | CDG-Ic · CDG-Syndrom Typ Ic · CDG1C · Glukosyltransferase 1-Mangel · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ic · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ic |
| es | ALG6-CDG | Deficiencia de glucosiltransferasa 1 · Síndrome CDG tipo Ic · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ic · Trastorno congénito de la glicosilación tipo 1c · Trastorno congénito de la glicosilación tipo Ic · CDG-Ic · CDG1C |
| it | ALG6-CDG | CDG-Ic · CDG1C · Deficit di glucosiltransferasi 1 · Disturbo congenito della glicosilazione, tipo Ic · Disturbo congenito della glisosilazione, tipo 1c · Sindrome CDG, tipo Ic · Sindrome delle glicoproteine carenti in carboidrati, tipo Ic |
| nl | ALG6-CDG | CDG-Ic · CDG-syndroom type Ic · CDG1C · Congenitale defecten van de glycosylering type 1c · Congenitale defecten van de glycosylering type Ic · Congenitale glycosylatiestoornis type 1c · Congenitale glycosylatiestoornis type Ic · Glucosyltransferase 1-deficiëntie · Koolhydraatdeficiënt glycoproteïne-syndroom type Ic |
| pt | ALG6-CDG | CDG-Ic · CDG1C · Deficiência de glucosiltransferase 1 · Doença congénita da glicosilação tipo 1c · Doença congénita da glicosilação tipo Ic · Síndrome CDG tipo Ic · Síndrome de glicoproteína deficiente em carbohidratos tipo Ic |
| pl | ALG6-CDG | CDG1C · CDG-Ic · Niedobór glukozylotransferazy 1 · Wrodzone zaburzenie glikozylacji typu 1c · Wrodzone zaburzenie glikozylacji typu Ic · Zespół CDG typu Ic · Zespół obniżonej glikozylacji glikoprotein typu Ic |
| cs | ALG6-CDG | CDG syndrom, typ Ic · CDG-Ic · CDG1C · Carbohydrate deficient glycoprotein syndrom type Ic · Vrozená porucha glykosylace, typ 1c · Vrozená porucha glykosylace, typ Ic · Deficit glukosyltransferázy 1 · Syndrom s deficitem karbohydrátového glykoproteinu typ Ic |
| uk | ALG6-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ic · Синдром CDG тип Ic · CDG1C · CDG-Ic · Вроджене порушення глікозилювання типу 1c · Вроджене порушення глікозилювання типу Ic · Дефіцит глюкозилтрансферази 1 |
| zh | 先天性糖基化障碍1c型 | 碳水化合物缺乏糖蛋白综合征Ic型 |
| tr | ALG6-CDG | CDG1C · CDG-Ic · CDG sendromu tip Ic · Glukosiltransferaz 1 eksikliği · Tip 1c'nin doğumsal bozukluğu · Tip Ic'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ic |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603147 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0011291 | E | validated | |
| MeSH | C535741 | E | validated | |
| UMLS | C2930997 | E | validated | |
| GARD | 9829 | 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:371188Congenital disorder of glycosylation with intestinal involvement
rare gastroenterological diseases; rare genetic 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 |
|---|---|---|---|---|---|---|---|---|
| ALG6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23157 | ENSG00000088035 | 604566 | 1p31.3 | ALG6 alpha-1,3-glucosyltransferase | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 54 cases | Worldwide | Case(s) | Validated | 25052310[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25052310[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
35 annotations · validated 2021-09-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Frequent (79-30%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001251 | Ataxia | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001252 | Hypotonia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0001392 | Abnormality of the liver | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000316 | Hypertelorism | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0000952 | Jaundice | |
| HP:0000369 | Low-set ears | |
| HP:0000158 | Macroglossia | |
| HP:0002243 | Protein-losing enteropathy | |
| HP:0040246 | Reduced antithrombin antigen | |
| HP:0001929 | Reduced factor XI activity | |
| HP:0005543 | Reduced protein C activity | |
| HP:0004855 | Reduced protein S activity | |
| HP:0002650 | Scoliosis | |
| HP:0006118 | Shortening of all distal phalanges of the fingers | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000486 | Strabismus | |
| HP:0003642 | Type I transferrin isoform profile | |
| Very rare (<4-1%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0003563 | Decreased LDL cholesterol concentration | |
| HP:0002625 | Deep venous thrombosis | |
| HP:0030348 | Increased circulating androgen concentration | |
| HP:0008373 | Puberty and gonadal disorders | |
| HP:0000546 | Retinal degeneration | |
| HP:0000510 | Rod-cone dystrophy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28108845[PMID]_34441372[PMID]_30740408[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79320
- This record as JSON: /data/d/79320.json