ROSAH syndrome
Synonyms: Optic nerve edema-splenomegaly syndrome · Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ROSAH syndrome | Optic nerve edema-splenomegaly syndrome · Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome |
| fr | Syndrome ROSAH | Syndrome de dystrophie rétinienne-oedème du nerf optique-splénomégalie-anhidrose-céphalée migraineuse |
| de | ROSAH-Syndrom | Sehnervödem-Splenomegalie-Syndrom · Netzhautdystrophie-Sehnervödem-Splenomegalie-Anhidrose-Migräne-Kopfschmerz-Syndrom |
| es | Síndrome ROSAH | Síndrome de edema del nervio óptico-esplenomegalia · Síndrome de distrofia retiniana-edema del nervio óptico-esplenomegalia-anhidrosis-cefalea migrañosa |
| it | Sindrome ROSAH | Sindrome edema del nervo ottico-splenomegalia · Sindrome da distrofia della retina, edema del nervo ottico, splenomegalia, anidrosi ed emicrania · Sindrome da edema del nervo ottico e splenomegalia |
| nl | ROSAH-syndroom | Oedeem van nervus opticus - splenomegalie-syndroom · Retinadystrofie - oedeem van nervus opticus - splenomegalie - anhidrose - migrainehoofdpijn-syndroom |
| pt | Síndrome de distrofia da retina-edema do nervo óptico-esplenomegalia-anidrose-enxaqueca | Síndrome ROSAH · Síndrome de edema do nervo óptico-esplenomegália |
| pl | Zespół obrzęk nerwu wzrokowego-splenomegalia | Zespół dystrofia siatkówki-obrzęk nerwu wzrokowego-splenomegalia-brak potliwości-migrenowy ból głowy |
| cs | Syndrom zahrnující retinální dystrofii, edém optického nervu, splenomegalii, anhidrózu a migrenózní bolesti hlavy | = en |
| uk | Синдром дистрофії сітківки-набряку зорового нерва-спленомегалії-ангідрозу-мігрені | Синдром набряку зорового нерва-спленомегалії · Синдром ROSAH |
| zh | 视神经水肿-脾肿大综合征 | |
| tr | Optik sinir ödemi-splenomegali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614979 | E | validated | |
| ICD-10 | H35.8 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | attributed | validated |
| MONDO | 0013999 | E | validated | |
| UMLS | C4749914 | 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 (3):
- ORPHA:519339Pseudopapilledema
rare genetic diseases; rare ophthalmic disorders - ORPHA:165711Rare abdominal surgical disease
rare abdominal surgical diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALPK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20917 | ENSG00000073331 | 607347 | 4q25 | alpha kinase 1 | 30967659[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22307799[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313800
- This record as JSON: /data/d/313800.json