OORS
MCID: IVC001
MIFTS: 26

Ivic Syndrome (OORS) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Ivic Syndrome

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ivic Syndrome:

Name: Ivic Syndrome 52 48 54 70 27 12
Oculootoradial Syndrome 48 70 68
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 48 54
 
Oors 48 70
Instituto Venezolano De Investigaciones Cientificas Syndrome 48
Oculo-Oto-Radial Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
ivic syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile

HPO:

64
ivic syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 147750
Orphanet54 ORPHA2307
UMLS via Orphanet69 C1327918
ICD10 via Orphanet31 Q71.8
MedGen37 C1327918

Summaries for Ivic Syndrome

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UniProtKB/Swiss-Prot:70 Oculootoradial syndrome: Autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype.

MalaCards based summary: Ivic Syndrome, also known as oculootoradial syndrome, is related to thrombocytopenia, and has symptoms including ophthalmoplegia, ophthalmoplegia and rectovaginal fistula. An important gene associated with Ivic Syndrome is SALL4 (Spalt Like Transcription Factor 4). Affiliated tissues include bone, kidney and heart.

Description from OMIM:52 147750

Related Diseases for Ivic Syndrome

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Diseases related to Ivic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia9.8

Symptoms & Phenotypes for Ivic Syndrome

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Symptoms by clinical synopsis from OMIM:

147750

Clinical features from OMIM:

147750

Human phenotypes related to Ivic Syndrome:

 64 (show all 22)
id Description HPO Frequency HPO Source Accession
1 rectovaginal fistula64 HP:0000143
2 hearing impairment64 HP:0000365
3 strabismus64 HP:0000486
4 external ophthalmoplegia64 HP:0000544
5 triphalangeal thumb64 HP:0001199
6 small thenar eminence64 HP:0001245
7 carpal bone hypoplasia64 HP:0001498
8 thrombocytopenia64 HP:0001873
9 leukocytosis64 HP:0001974
10 anal atresia64 HP:0002023
11 intestinal malrotation64 HP:0002566
12 scoliosis64 HP:0002650
13 radioulnar synostosis64 HP:0002974
14 hypoplasia of the radius64 HP:0002984
15 limited elbow movement64 HP:0002996
16 limited interphalangeal movement64 HP:0006064
17 limited wrist movement64 HP:0006248
18 pectoralis major hypoplasia64 HP:0008953
19 carpal synostosis64 HP:0009702
20 absent thumb64 HP:0009777
21 short 1st metacarpal64 HP:0010034
22 hypoplasia of deltoid muscle64 HP:0030241

UMLS symptoms related to Ivic Syndrome:


ophthalmoplegia

Drugs & Therapeutics for Ivic Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274

Search NIH Clinical Center for Ivic Syndrome

Genetic Tests for Ivic Syndrome

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Genetic tests related to Ivic Syndrome:

id Genetic test Affiliating Genes
1 Ivic Syndrome27

Anatomical Context for Ivic Syndrome

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MalaCards organs/tissues related to Ivic Syndrome:

36
Bone, Kidney, Heart

Publications for Ivic Syndrome

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Articles related to Ivic Syndrome:

idTitleAuthorsYear
1
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. (17256792)
2007
2
Monozygotic twins discordant for the oculo-oto-radial syndrome (IVIC syndrome). (9327262)
1997
3
IVIC syndrome: report of a third family. (2764039)
1989
4
IVIC syndrome report by Czeizel et al. (2764040)
1989
5
IVIC syndrome: report of a second family. (3400733)
1988
6
The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. (7395922)
1980

Variations for Ivic Syndrome

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Clinvar genetic disease variations for Ivic Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SALL4SALL4, 1-BP DEL, 2607AdeletionPathogenic

Expression for genes affiliated with Ivic Syndrome

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Search GEO for disease gene expression data for Ivic Syndrome.

Pathways for genes affiliated with Ivic Syndrome

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GO Terms for genes affiliated with Ivic Syndrome

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Sources for Ivic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet