ORPHA:653709
Cone rod dystrophy-short stature syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cone rod dystrophy-short stature syndrome | |
| fr | Syndrome de dystrophie des cônes et des bâtonnets-petite taille | |
| de | Zapfenstäbchendystrophie-Kleinwuchs-Syndrom | Syndrom der Zapfenstäbchendystrophie und Kleinwuchs |
| es | Síndrome de distrofia de conos y bastones-talla baja | |
| it | Sindrome distrofia dei coni e dei bastoncelli-bassa statura | |
| nl | Kegel-staafdystrofie - kleine gestalte-syndroom | |
| pt | Síndrome de distrofia de cones e bastonetes-baixa estatura | |
| pl | Zespół dystrofii pręcikowo-czopkowej i niskiego wzrostu | |
| cs | Syndrom zahrnující dystrofii tyčinek a čípků a malý vzrůst | |
| uk | Синдром дистрофії шишкоподібного відростка-низькорослості |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617547 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | attributed | validated |
| MONDO | 60507 | E | validated | |
| UMLS | C5925115 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFAP410 | Disease-causing germline mutation(s) in | Assessed | HGNC:1260 | ENSG00000160226 | 603191 | 21q22.3 | cilia and flagella associated protein 410 | 27548899[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 34915818[PMID]_26294103[PMID]_27548899[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34915818[PMID]_26294103[PMID]_27548899[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/653709
- This record as JSON: /data/d/653709.json