MCID: IVC001
MIFTS: 27

Ivic Syndrome 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 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: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 31)
id Description HPO Frequency HPO Source Accession
1 hearing impairment64 hallmark (90%) HP:0000365
2 strabismus64 hallmark (90%) HP:0000486
3 limitation of joint mobility64 hallmark (90%) HP:0001376
4 short stature64 hallmark (90%) HP:0004322
5 triphalangeal thumb64 typical (50%) HP:0001199
6 scoliosis64 typical (50%) HP:0002650
7 radioulnar synostosis64 typical (50%) HP:0002974
8 synostosis of carpal bones64 typical (50%) HP:0005048
9 abnormal dermatoglyphics64 typical (50%) HP:0007477
10 aplasia/hypoplasia of the thumb64 typical (50%) HP:0009601
11 abnormality of the clavicle64 occasional (7.5%) HP:0000889
12 preaxial hand polydactyly64 occasional (7.5%) HP:0001177
13 thrombocytopenia64 occasional (7.5%) HP:0001873
14 leukocytosis64 occasional (7.5%) HP:0001974
15 arrhythmia64 occasional (7.5%) HP:0011675
16 urogenital fistula64 occasional (7.5%) HP:0100589
17 rectovaginal fistula64 HP:0000143
18 external ophthalmoplegia64 HP:0000544
19 small thenar eminence64 HP:0001245
20 carpal bone hypoplasia64 HP:0001498
21 anal atresia64 HP:0002023
22 intestinal malrotation64 HP:0002566
23 hypoplasia of the radius64 HP:0002984
24 limited elbow movement64 HP:0002996
25 limited interphalangeal movement64 HP:0006064
26 limited wrist movement64 HP:0006248
27 pectoralis major hypoplasia64 HP:0008953
28 carpal synostosis64 HP:0009702
29 absent thumb64 HP:0009777
30 short 1st metacarpal64 HP:0010034
31 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

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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, Bone marrow

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, 2607AdeletionPathogenicChr na, -1: -1

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