ORPHA:689822
Structural heart defects-renal anomalies syndrome
Synonyms: SHDRA syndrome · Severe congenital heart defects-renal anomalies syndome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Structural heart defects-renal anomalies syndrome | SHDRA syndrome · Severe congenital heart defects-renal anomalies syndome |
| fr | Syndrome de malformations cardiaques structurelles-anomalies rénales | Syndrome sévère de malformations cardiaques congénitales et d'anomalies rénales |
| de | Strukturelle Herzfehler-Nierenanomalien-Syndrom | SHDRA-Syndrom · Syndrom des schweren kongenitalen Herzdefekts mit Nierenanomalien |
| es | Síndrome de cardiopatías congénitas graves-anomalías renales | Síndrome SHDRA · Síndrome de defectos cardíacos congénitos graves-anomalías renales · Síndrome de defectos cardíacos estructurales-anomalías renales |
| it | Sindrome cardiopatie strutturali e anomalie renali | Sindrome SHDRA · Sindrome cardiopatie congenite gravi-anomalie renali |
| nl | Structurele hartdefecten - nieranomalieën-yndroom | Ernstige congenitale hartdefecten - nieranomalieën-yndroom · SHDRA-syndroom |
| pt | Síndrome de defeitos cardíacos estruturais-anomalias renais | Síndrome SHDRA · Síndrome de defeitos cardíacos congénitos graves-anomalias renais |
| pl | Zespół strukturalnych wad serca i nerek | = en |
| cs | Syndrom zahrnující strukturální srdeční vady a anomálie ledvin | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617478 | E | validated | |
| ICD-10 | Q21.8 | NTBT | attributed | validated |
| ICD-11 | LA88.Y | NTBT | attributed | validated |
| MONDO | 44321 | 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: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:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMEM260 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20185 | ENSG00000070269 | 617449 | 14q22.3 | transmembrane protein 260 | 37186866[PMID]_34612517[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 28318500[PMID]_34612517[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28318500[PMID]_34612517[PMID]_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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/689822
- This record as JSON: /data/d/689822.json