ORPHA:140976
RHYNS syndrome
Synonyms: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RHYNS syndrome | Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome |
| fr | Syndrome RHYNS | Syndrome de rétinite pigmentaire-hypopituitarisme-néphronophtise-dysplasie osseuse |
| de | RHYNS-Syndrom | |
| es | Síndrome RHYNS | |
| it | Sindrome RHYNS | |
| nl | RHYNS-syndroom | Retinitis pigmentosa - hypopituïtarisme - nefronoftisis - skeletdysplasie-syndroom |
| pt | Síndrome RHYNS | |
| pl | Zespół RHYNS | Zwyrodnienie barwnikowe siatkówki - niedoczynność przysadki - nefronoftyza - dysplazja szkieletowa |
| cs | RHYNS syndrom | Syndrom zahrnující retinitis pigmentosa, hypopituitarismus, nefronoftízu a skeletální dysplázii |
| uk | RHYNS синдром | Синдром пігментного ретиніту-гіпопітуїтаризму-нефронофтізісу- скелетної дисплазії |
| zh | RHYNS综合征 | 视网膜色素变性-垂体功能减退症-肾消耗病-骨骼发育不良综合征 |
| tr | RHYNS sendromu | Retinitis pigmentosa-hipopitüitarizm-nefronofitizis-iskelet displazisi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602152 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011202 | E | validated | |
| MeSH | C537612 | E | validated | |
| UMLS | C1865794 | E | validated | |
| GARD | 9681 | 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:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMEM67 | Disease-causing germline mutation(s) in | Assessed | HGNC:28396 | ENSG00000164953 | 609884 | 8q22.1 | transmembrane protein 67 | 29891882[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 9375913[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9375913[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.
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HPO phenotypes
19 annotations · validated 2017-02-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0040075 | Hypopituitarism | |
| HP:0000090 | Nephronophthisis | |
| HP:0000508 | Ptosis | |
| HP:0000510 | Rod-cone dystrophy | |
| Frequent (79-30%) | ||
| HP:0006897 | Abducens palsy | |
| HP:0000002 | Abnormality of body height | |
| HP:0011314 | Abnormality of long bone morphology | |
| HP:0003170 | Abnormality of the acetabulum | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000490 | Deeply set eye | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000365 | Hearing impairment | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000938 | Osteopenia | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0010585 | Small epiphyses | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 9375913[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140976
- This record as JSON: /data/d/140976.json