ORPHA:79332
B4GALT1-CDG
Synonyms: Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId · CDG-IId · CDG2D · Carbohydrate deficient glycoprotein syndrome type IId · Congenital disorder of glycosylation type 2d · Congenital disorder of glycosylation type IId
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the <i>GALT1</i> gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | B4GALT1-CDG | Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId · CDG-IId · CDG2D · Carbohydrate deficient glycoprotein syndrome type IId · Congenital disorder of glycosylation type 2d · Congenital disorder of glycosylation type IId |
| fr | B4GALT1-CDG | Anomalie congénitale de la glycosylation type 2d · Anomalie congénitale de la glycosylation type IId · CDG-IId · CDG2D · Déficit en bêta-1,4-galactosyltransférase · Syndrome CDG type IId · Syndrome des glycoprotéines déficientes en hydrates de carbone type IId |
| de | B4GALT1-CDG | Beta-1,4-Galaktosyltransferase-Mangel · CDG-IId · CDG-Syndrom Typ IId · CDG2D · Kohlenhydrat-defizientes Glykoprotein-Syndrom IId · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IId |
| es | B4GALT1-CDG | CDG-IId · CDG2D · Deficiencia de beta-1,4-galactosiltransferasa · Síndrome CDG tipo IId · Síndrome de glicoproteínas deficientes en carbohidratos tipo IId · Trastorno congénito de la glicosilación tipo 2d · Trastorno congénito de la glicosilación tipo IId |
| it | B4GALT1-CDG | CDG-IId · CDG2D · Deficit di beta-1,4-galattosiltransferasi · Disturbo congenito della glicosilazione, tipo 2d · Disturbo congenito della glicosilazione, tipo IId · Sindrome CDG, tipo IId · Sindrome delle glicoproteine carenti in carboidrati, tipo IId |
| nl | B4GALT1-CDG | Bèta-1,4-galactosyltransferasedeficiëntie · CDG-IId · CDG-syndroom type IId · CDG2D · Congenitale defecten van de glycosylering type 2d · Congenitale defecten van de glycosylering type IId · Congenitale glycosylatiestoornis type 2d · Congenitale glycosylatiestoornis type IId · Koolhydraatdeficiënt glycoproteïne-syndroom type IId |
| pt | B4GALT1-CDG | CDG-IId · CDG2D · Deficiência de beta-1,4-galactosiltransferase · Doença congénita da glicosilação tipo 2d · Doença congénita da glicosilação tipo IId · Síndrome CDG tipo IId · Síndrome de glicoproteína deficiente em carbohidratos tipo IId |
| pl | B4GALT1-CDG | CDG2D · CDG-IId · Niedobór beta-1,4-galaktozylotransferazy · Wrodzone zaburzenie glikozylacji typu 2d · Wrodzone zaburzenie glikozylacji typu IId · Zespół CDG typu IId · Zespół obniżonej glikozylacji glikoprotein IId |
| cs | B4GALT1-CDG | Deficit beta-1,4-galaktosyltransferázy · CDg syndrom, typ IId · CDG-IId · CDG2D · Carbohydrate deficient glycoprotein syndrom type IId · Vrozená porucha glykosylace, typ 2d · Vrozená porucha glykosylace, typ IId · Syndrom s deficitem karbohydrátového glykoproteinu typ IId |
| uk | B4GALT1-CDG | Дефіцит бета-1,4-галактозилтрансферази · Вуглеводно-дефіцитний глікопротеїновий синдром типу IId · Синдром CDG, тип IId · CDG2D · CDG-IId · Вроджене порушення глікозилювання типу 2d · Вроджене порушення глікозилювання типу IId |
| zh | 先天性糖基化障碍2d型 | 糖蛋白缺乏综合征Ⅱd型 |
| tr | B4GALT1-CDG | CDG2D · CDG-IId · CDG sendromu tip IId · Beta-1,4-galaktosiltransferaz eksikliği · Glikozilasyon tip 2d'nin doğumsal bozukluğu · Glikozilasyon tip IId'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip IId |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607091 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | index | validated |
| MONDO | 0011772 | E | validated | |
| MeSH | C535753 | E | validated | |
| UMLS | C2931009 | E | validated | |
| GARD | 9841 | 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 (6):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
rare genetic diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| B4GALT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:924 | ENSG00000086062 | 137060 | 9p21.1 | beta-1,4-galactosyltransferase 1 | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 11930273[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11930273[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
34 annotations · validated 2021-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0008947 | Floppy infant | |
| HP:0012301 | Type II transferrin isoform profile | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0008936 | Axial hypotonia | |
| HP:0003563 | Decreased LDL cholesterol concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000369 | Low-set ears | |
| HP:0000545 | Myopia | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0005543 | Reduced protein C activity | |
| HP:0004855 | Reduced protein S activity | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002014 | Diarrhea | |
| HP:0000969 | Edema | |
| HP:0002240 | Hepatomegaly | |
| HP:0011003 | High myopia | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000821 | Hypothyroidism | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0003186 | Inverted nipples | |
| HP:0000343 | Long philtrum | |
| HP:0001622 | Premature birth | |
| HP:0005989 | Redundant neck skin | |
| HP:0001518 | Small for gestational age | |
| HP:0001744 | Splenomegaly | |
| HP:0000219 | Thin upper lip vermilion | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 21920538[PMID]_28139241[PMID]_31800099[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79332
- This record as JSON: /data/d/79332.json