NANS-CDG
Synonyms: SEMD, Geneviève type · SEMDG · N-acetylneuraminic acid-9-phosphate synthase deficiency · Spondyloepimetaphyseal dysplasia Camera-Genevieve type · Spondyloepimetaphyseal dysplasia, Geneviève type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NANS-CDG | SEMD, Geneviève type · SEMDG · N-acetylneuraminic acid-9-phosphate synthase deficiency · Spondyloepimetaphyseal dysplasia Camera-Genevieve type · Spondyloepimetaphyseal dysplasia, Geneviève type |
| fr | NANS-CDG | SEMD type Geneviève · SEMDG · Déficit en N-acétylneuraminique acide-9-phosphate synthase · Dysplasie spondylo-épimétaphysaire type Camera-Genevieve · Dysplasie spondylo-épimétaphysaire type Geneviève |
| de | NANS-CDG | SEMD Typ Geneviève · SEMDG · Kongenitale Glykosylierungsstörung durch N-Acetylneuraminsäure-9-phosphat-Synthase-Mangel · Dysplasie, spondyloepimetaphysäre, Typ Geneviève |
| es | NANS-CDG | Deficiencia de ácido N-acetilneuramínico-9-fosfato sintasa · Displasia espondiloepimetafisaria tipo Camera-Genevieve · Displasia espondiloepimetafisaria tipo Geneviève · SEMD, tipo Geneviève · SEMDG |
| it | NANS-CDG | Displasia spondiloepimetafisaria tipo Camera-Genevieve · Deficit di acido N-acetilneuraminico-9-fosfato sintasi · Displasia spondiloepimetafisaria, tipo Genevieve · SEMDG · SEMD, tipo Geneviève |
| nl | NANS-CDG | Deficiëntie van N-acetylneuraminezuur-9-fosfaat-synthase · Spondylo-epimetafysaire dysplasie, Camera-Geneviève-type · Spondylo-epimetafysaire dysplasie, Geneviève-type · SEMD, Geneviève-type · SEMDG |
| pt | Displasia espondiloepimetafisária, tipo Genevieve | |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa, typ Geneviève | = en |
| cs | Spondyloepimetafyzární dysplázie, Genevieveho typ | = en |
| uk | Спондилоепіметафізарна дисплазія, тип Женевєва | SEMD, тип Женевєва · SEMDG |
| zh | GeneviÞve 型脊柱干骺端发育不良 | Geneviève型SEMD |
| tr | Spondiloepimetafizyaldisplazi, GeneviÞve tipi | SEMDG · SEMD, Geneviève tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610442 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0012495 | E | validated | |
| MeSH | C535785 | E | validated | |
| UMLS | C1864872 | E | validated | |
| GARD | 10057 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NANS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19237 | ENSG00000095380 | 605202 | 9q22.33 | N-acetylneuraminate synthase | 27213289[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 27213289[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27213289[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168454
- This record as JSON: /data/d/168454.json