MCID: IVC001
MIFTS: 28

Ivic Syndrome malady

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

Aliases & Classifications for Ivic Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ivic Syndrome:

Name: Ivic Syndrome 50 46 52 68 25 12
Oculootoradial Syndrome 46 68 66
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 46 52
 
Oors 46 68
Instituto Venezolano De Investigaciones Cientificas Syndrome 46
Oculo-Oto-Radial Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
ivic syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile

HPO:

62
ivic syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 147750
Orphanet52 ORPHA2307
ICD10 via Orphanet29 Q71.8
UMLS via Orphanet67 C1327918
MedGen35 C1327918

Summaries for Ivic Syndrome

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UniProtKB/Swiss-Prot:68 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 hearing impairment, strabismus and limitation of joint mobility. An important gene associated with Ivic Syndrome is SALL4 (Spalt Like Transcription Factor 4). Affiliated tissues include bone, kidney and heart.

Description from OMIM:50 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
1thrombocytopenia9.9

Symptoms for Ivic Syndrome

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Symptoms by clinical synopsis from OMIM:

147750

Clinical features from OMIM:

147750

HPO human phenotypes related to Ivic Syndrome:

(show all 38)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 strabismus hallmark (90%) HP:0000486
3 limitation of joint mobility hallmark (90%) HP:0001376
4 short stature hallmark (90%) HP:0004322
5 triphalangeal thumb typical (50%) HP:0001199
6 scoliosis typical (50%) HP:0002650
7 radioulnar synostosis typical (50%) HP:0002974
8 synostosis of carpal bones typical (50%) HP:0005048
9 abnormal dermatoglyphics typical (50%) HP:0007477
10 aplasia/hypoplasia of the thumb typical (50%) HP:0009601
11 abnormality of the clavicle occasional (7.5%) HP:0000889
12 preaxial hand polydactyly occasional (7.5%) HP:0001177
13 thrombocytopenia occasional (7.5%) HP:0001873
14 leukocytosis occasional (7.5%) HP:0001974
15 arrhythmia occasional (7.5%) HP:0011675
16 urogenital fistula occasional (7.5%) HP:0100589
17 rectovaginal fistula HP:0000143
18 hearing impairment HP:0000365
19 strabismus HP:0000486
20 external ophthalmoplegia HP:0000544
21 triphalangeal thumb HP:0001199
22 small thenar eminence HP:0001245
23 carpal bone hypoplasia HP:0001498
24 thrombocytopenia HP:0001873
25 leukocytosis HP:0001974
26 anal atresia HP:0002023
27 intestinal malrotation HP:0002566
28 scoliosis HP:0002650
29 radioulnar synostosis HP:0002974
30 hypoplasia of the radius HP:0002984
31 limited elbow movement HP:0002996
32 limited interphalangeal movement HP:0006064
33 limited wrist movement HP:0006248
34 pectoralis major hypoplasia HP:0008953
35 carpal synostosis HP:0009702
36 absent thumb HP:0009777
37 short 1st metacarpal HP:0010034
38 hypoplasia of deltoid muscle 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 Syndrome25

Anatomical Context for Ivic Syndrome

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MalaCards organs/tissues related to Ivic Syndrome:

34
Bone, Kidney, Heart, Bone marrow

Animal Models for Ivic Syndrome or affiliated genes

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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 by Czeizel et al. (2764040)
1989
4
IVIC syndrome: report of a third family. (2764039)
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet