Name: ROSAH syndrome | Acronym: ROSAH
Alt. names: retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

Gene: ALPK1 | MOI: Autosomal dominant | Mechanism of action: Gain of Function

No. of cases in DB: 0 | First reported in: 2019

Last updated on: 2024-07-29 01:01:40 by Xiao P. Peng

OMIM: 614979

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It is characterized by childhood-onset reduced vision associated with papilledema, low-grade ocular inflammation unresponsive to immunosuppression and progressive deterioration of visual acuity. Patients also show anhidrosis, splenomegaly, chronic mild pancytopenia that may be exacerbated during infections, migraine-like headaches often accompanied by episodic fevers with back and joint pains, dental and/or nail issues, and variable renal impairment (PMID: 22307799, 30967659, 31939038). Peripheral smears frequently show leukopenia with reactive lymphocytosis, while bone marrow is normocellular with trilineage hematopoiesis and relative erythroid hyperplasia. Immunophenotyping performed on 2 Chinese patients found elevated inflammatory markers and serum TNF-alpha levels, as well as reduced CD19+ B cell counts and low IgM in one patient (PMID: 31939038).

The best treatment remains unknown, but biologics targeting tumour necrosis factor, interleukin (IL)-1, and IL-6 have shown efficacy in suppressing systemic inflammation (PMID: 38251500). For further details, see GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK604494/