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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ivic Syndrome:

Name: Ivic Syndrome 51 47 53 69 26 12
Oculootoradial Syndrome 47 69 67
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 47 53
 
Oors 47 69
Instituto Venezolano De Investigaciones Cientificas Syndrome 47
Oculo-Oto-Radial Syndrome 53

Characteristics:

Orphanet epidemiological data:

53
ivic syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile

HPO:

63
ivic syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM51 147750
Orphanet53 ORPHA2307
UMLS via Orphanet68 C1327918
ICD10 via Orphanet30 Q71.8
MedGen36 C1327918

Summaries for Ivic Syndrome

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UniProtKB/Swiss-Prot:69 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:51 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 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:

 63 (show all 31)
id Description HPO Frequency HPO Source Accession
1 hearing impairment63 hallmark (90%) HP:0000365
2 strabismus63 hallmark (90%) HP:0000486
3 limitation of joint mobility63 hallmark (90%) HP:0001376
4 short stature63 hallmark (90%) HP:0004322
5 triphalangeal thumb63 typical (50%) HP:0001199
6 scoliosis63 typical (50%) HP:0002650
7 radioulnar synostosis63 typical (50%) HP:0002974
8 synostosis of carpal bones63 typical (50%) HP:0005048
9 abnormal dermatoglyphics63 typical (50%) HP:0007477
10 aplasia/hypoplasia of the thumb63 typical (50%) HP:0009601
11 abnormality of the clavicle63 occasional (7.5%) HP:0000889
12 preaxial hand polydactyly63 occasional (7.5%) HP:0001177
13 thrombocytopenia63 occasional (7.5%) HP:0001873
14 leukocytosis63 occasional (7.5%) HP:0001974
15 arrhythmia63 occasional (7.5%) HP:0011675
16 urogenital fistula63 occasional (7.5%) HP:0100589
17 rectovaginal fistula63 HP:0000143
18 external ophthalmoplegia63 HP:0000544
19 small thenar eminence63 HP:0001245
20 carpal bone hypoplasia63 HP:0001498
21 anal atresia63 HP:0002023
22 intestinal malrotation63 HP:0002566
23 hypoplasia of the radius63 HP:0002984
24 limited elbow movement63 HP:0002996
25 limited interphalangeal movement63 HP:0006064
26 limited wrist movement63 HP:0006248
27 pectoralis major hypoplasia63 HP:0008953
28 carpal synostosis63 HP:0009702
29 absent thumb63 HP:0009777
30 short 1st metacarpal63 HP:0010034
31 hypoplasia of deltoid muscle63 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 Syndrome26

Anatomical Context for Ivic Syndrome

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MalaCards organs/tissues related to Ivic Syndrome:

35
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, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet