ROSAH
MCID: RTN232
MIFTS: 25

Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome (ROSAH)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

MalaCards integrated aliases for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome:

Name: Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 57
Splenomegaly, Cytopenia, and Vision Loss 57 29 6
Rosah Syndrome 57 36 6
Optic Nerve Edema-Splenomegaly Syndrome 58
Rosah 57

Characteristics:

Orphanet epidemiological data:

58
optic nerve edema-splenomegaly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 614979
KEGG 36 H02482
Orphanet 58 ORPHA313800
MedGen 41 C3554278

Summaries for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

OMIM® : 57 Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH) is an autosomal dominant disorder in which affected individuals present in childhood with reduced vision associated with papilledema and low-grade ocular inflammation. Progressive deterioration of visual acuity results in counting fingers to no light perception by the third decade of life. Patients also show anhidrosis, as well as splenomegaly and mild pancytopenia, and most experience headaches that may be migraine-like in nature (Williams et al., 2019). (614979) (Updated 05-Mar-2021)

MalaCards based summary : Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome, also known as splenomegaly, cytopenia, and vision loss, is related to migraine with or without aura 1 and anhidrosis. An important gene associated with Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome is ALPK1 (Alpha Kinase 1). Affiliated tissues include eye and bone, and related phenotypes are splenomegaly and urticaria

KEGG : 36 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.

Wikipedia : 74 ROSAH syndrome is a rare genetic disorder characterised by Retinal dystrophy, Optic nerve edema,... more...

Related Diseases for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

Diseases related to Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 migraine with or without aura 1 9.9
2 anhidrosis 9.9
3 pancytopenia 9.9
4 fundus dystrophy 9.9
5 splenomegaly 9.9
6 inherited retinal disorder 9.9

Graphical network of the top 20 diseases related to Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome:



Diseases related to Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome

Symptoms & Phenotypes for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

Human phenotypes related to Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 urticaria 31 HP:0001025
3 visual loss 31 HP:0000572
4 pancytopenia 31 HP:0001876
5 anhidrosis 31 HP:0000970

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
optic atrophy
uveitis
vitreous hemorrhage
optic disc pallor
retinal dystrophy
more
Respiratory Nasopharynx:
recurrent upper respiratory infections

Hematology:
pancytopenia, mild

Head And Neck Teeth:
multiple dental caries (in some patients)
peg-shaped teeth (uncommon)

Genitourinary Kidneys:
renal failure, mild (in australian family)

Immunology:
low igm, mild (in some patients)
lymphopenia, mild (in some patients)

Skin Nails Hair Skin:
urticaria
anhidrosis
recurrent jaundice (in 1 patient)

Abdomen Liver:
hepatomegaly (uncommon)

Metabolic Features:
fever, recurrent

Abdomen Spleen:
splenomegaly, massive congestive

Neurologic Central Nervous System:
recurrent headaches (often migrainous in nature)

Laboratory Abnormalities:
elevated tnfa levels
elevated c-reactive protein

Clinical features from OMIM®:

614979 (Updated 05-Mar-2021)

Drugs & Therapeutics for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

Search Clinical Trials , NIH Clinical Center for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome

Genetic Tests for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

Genetic tests related to Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome:

# Genetic test Affiliating Genes
1 Splenomegaly, Cytopenia, and Vision Loss 29 ALPK1

Anatomical Context for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

MalaCards organs/tissues related to Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome:

40
Eye, Bone

Publications for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

Articles related to Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome:

# Title Authors PMID Year
1
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1. 6 57 61
31939038 2020
2
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 6 57 61
30967659 2019
3
An inherited disorder with splenomegaly, cytopenias, and vision loss. 57
22307799 2012

Variations for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

ClinVar genetic disease variations for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALPK1 NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) SNV Pathogenic 619031 rs1052954321 4:113348736-113348736 4:112427580-112427580
2 ALPK1 NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) SNV Pathogenic 619031 rs1052954321 4:113348736-113348736 4:112427580-112427580

Expression for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

Search GEO for disease gene expression data for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome.

Pathways for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

GO Terms for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

Sources for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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