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

Aliases & Descriptions for Ivic Syndrome:

Name: Ivic Syndrome 54 50 56 66 29 13
Oculootoradial Syndrome 50 66 69
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 50 56
Oors 50 66
Instituto Venezolano De Investigaciones Cientificas Syndrome 50
Oculo-Oto-Radial Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
ivic syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

HPO:

32
ivic syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 147750
Orphanet 56 ORPHA2307
UMLS via Orphanet 70 C1327918
ICD10 via Orphanet 34 Q71.8
MedGen 40 C1327918

Summaries for Ivic Syndrome

UniProtKB/Swiss-Prot : 66 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 scoliosis, hearing impairment and strabismus. An important gene associated with Ivic Syndrome is SALL4 (Spalt Like Transcription Factor 4). Affiliated tissues include bone, heart and kidney.

Description from OMIM: 147750

Related Diseases for Ivic Syndrome

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

id Related Disease Score Top Affiliating Genes
1 thrombocytopenia 9.8

Symptoms & Phenotypes for Ivic Syndrome

Symptoms by clinical synopsis from OMIM:

147750

Clinical features from OMIM:

147750

Human phenotypes related to Ivic Syndrome:

32 (show all 22)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 hearing impairment 32 HP:0000365
3 strabismus 32 HP:0000486
4 carpal bone hypoplasia 32 HP:0001498
5 thrombocytopenia 32 HP:0001873
6 limited elbow movement 32 HP:0002996
7 anal atresia 32 HP:0002023
8 intestinal malrotation 32 HP:0002566
9 leukocytosis 32 HP:0001974
10 radioulnar synostosis 32 HP:0002974
11 rectovaginal fistula 32 HP:0000143
12 triphalangeal thumb 32 HP:0001199
13 short 1st metacarpal 32 HP:0010034
14 external ophthalmoplegia 32 HP:0000544
15 hypoplasia of the radius 32 HP:0002984
16 absent thumb 32 HP:0009777
17 limited wrist movement 32 HP:0006248
18 carpal synostosis 32 HP:0009702
19 small thenar eminence 32 HP:0001245
20 limited interphalangeal movement 32 HP:0006064
21 pectoralis major hypoplasia 32 HP:0008953
22 hypoplasia of deltoid muscle 32 HP:0030241

UMLS symptoms related to Ivic Syndrome:


ophthalmoplegia

Drugs & Therapeutics for Ivic Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274

Search NIH Clinical Center for Ivic Syndrome

Genetic Tests for Ivic Syndrome

Genetic tests related to Ivic Syndrome:

id Genetic test Affiliating Genes
1 Ivic Syndrome 29

Anatomical Context for Ivic Syndrome

MalaCards organs/tissues related to Ivic Syndrome:

39
Bone, Heart, Kidney

Publications for Ivic Syndrome

Articles related to Ivic Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Ivic Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SALL4 SALL4, 1-BP DEL, 2607A deletion Pathogenic

Expression for Ivic Syndrome

Search GEO for disease gene expression data for Ivic Syndrome.

Pathways for Ivic Syndrome

GO Terms for Ivic Syndrome

Sources for Ivic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....