ORPHA:370930
XYLT1-CDG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | XYLT1-CDG | |
| fr | XYLT1-CDG | |
| de | XYLT1-CDG | |
| es | XYLT1-CDG | |
| it | XYLT1-CDG | |
| nl | XYLT1-CDG | |
| pt | XYLT1-CDG | |
| pl | XYLT1-CDG | |
| cs | XYLT1-CDG | |
| uk | XYLT1-CDG | |
| zh | XYLT1基因型先天性糖基化障碍 | |
| tr | XYLT1-CDG |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.1 | NTBT | attributed | validated |
| MONDO | 0018273 | E | validated | |
| UMLS | C4750849 | 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 (5):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309450Disorder of O-xylosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| XYLT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15516 | ENSG00000103489 | 608124 | 16p12.3 | xylosyltransferase 1 | 23982343[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23982343[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
29 annotations · validated 2019-09-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0001061 | Acne | |
| HP:0000885 | Broad ribs | |
| HP:0011304 | Broad thumb | |
| HP:0030084 | Clinodactyly | |
| HP:0002673 | Coxa valga | |
| HP:0003015 | Flared metaphysis | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001373 | Joint dislocation | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0500011 | Moon facies | |
| HP:0001763 | Pes planus | |
| HP:0000894 | Short clavicles | |
| HP:0100864 | Short femoral neck | |
| HP:0003026 | Short long bone | |
| HP:0004322 | Short stature | |
| HP:0001027 | Soft, doughy skin | |
| HP:0000664 | Synophrys | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0001007 | Hirsutism | |
| HP:0000545 | Myopia | |
| HP:0000520 | Proptosis | |
| HP:0004482 | Relative macrocephaly | |
| HP:0001956 | Truncal obesity | |
Annotation source: 28484880[PMID]_23982343[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370930
- This record as JSON: /data/d/370930.json