Congenital vertebral-cardiac-renal anomalies syndrome
Synonyms: Congenital NAD deficiency disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital vertebral-cardiac-renal anomalies syndrome | Congenital NAD deficiency disorder |
| fr | Syndrome d'anomalies vertébrales-cardiaques-rénales | Déficit congénital en NAD |
| de | Kongenitales vertebral-kardial-renales Fehlbildungssyndrom | Kongenitale NAD-Mangel-Störung · Kongenitale NAD-Mangelkrankheit |
| es | Síndrome congénito de anomalías vertebral-cardiaco-renales | Trastorno congénito de deficiencia de NAD |
| it | Sindrome anomalie vertebrali-cardiache-renali congenite | Malattia da deficit congenito di NAD |
| nl | Congenitale vertebrale-cardiale-renale anomalieën-syndroom | Congenitale NAD-deficiëntiestoornis |
| pt | Síndrome de anomalias congénitas vertebral-cardíaco-renal | |
| pl | Zespół wrodzonych wad kręgosłupa-serca-nerek | Wrodzony niedobór NAD |
| cs | Syndrom zahrnující vrozené vady páteře, srdce a ledvin | Vrozená porucha deficitu NAD |
| uk | Синдром вроджених хребетно-серцево-ниркових аномалій | Вроджений дефіцит NAD |
| zh | 先天性脊椎-心脏-肾脏异常综合症 | 先天性NAD缺乏症 |
| tr | Doğumsal vertebral-kardiyak-renal anomaliler sendromu | Doğumsal NAD eksikliği bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617660 | BTNT | validated | |
| OMIM | 617661 | BTNT | validated | |
| OMIM | 618845 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0020831 | E | validated | |
| UMLS | C5680183 | 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 (5):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HAAO | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4796 | ENSG00000162882 | 604521 | 2p21 | 3-hydroxyanthranilate 3,4-dioxygenase | 28792876[PMID] |
| KYNU | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6469 | ENSG00000115919 | 605197 | 2q22.2 | kynureninase | 28792876[PMID] |
| NADSYN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29832 | ENSG00000172890 | 608285 | 11q13.4 | NAD synthetase 1 | 31883644[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28792876[PMID] |
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 28792876[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/521438
- This record as JSON: /data/d/521438.json