KEGG   DISEASE: ROSAH syndrome
Entry
H02482                      Disease                                
Name
ROSAH syndrome
Description
ROSAH syndrome is an autosomal dominant systemic disorder characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. It has been reported that mutations in ALPK1 cause ROSAH syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02482  ROSAH syndrome
Gene
ALPK1 [HSA:80216] [KO:K08868]
Other DBs
ICD-11: LD2F.1Y
OMIM: 614979
Reference
PMID:22307799
  Authors
Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, DeAngelis MM, Clayton FC, Vitale AT, Rodgers GM
  Title
An inherited disorder with splenomegaly, cytopenias, and vision loss.
  Journal
Am J Med Genet A 158A:475-81 (2012)
DOI:10.1002/ajmg.a.34437
Reference
PMID:30967659
  Authors
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM
  Title
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
  Journal
Genet Med 21:2103-2115 (2019)
DOI:10.1038/s41436-019-0476-3
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