OORS
MCID: IVC001
MIFTS: 29

Ivic Syndrome (OORS)

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

Aliases & Classifications for Ivic Syndrome

MalaCards integrated aliases for Ivic Syndrome:

Name: Ivic Syndrome 58 54 60 76 38 30 13 6 41
Oculootoradial Syndrome 58 54 76 74
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 58 54 60
Oors 58 54 76
Instituto Venezolano De Investigaciones Cientificas Syndrome 54
Oculootoradial Syndrome; Oors 58
Oculo-Oto-Radial Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
ivic syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
allelic disorder to duane-radial ray syndrome (drrs, )


HPO:

33
ivic syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ivic Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2307Disease definitionIVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.EpidemiologyPrevalence of IVIC is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described.Clinical descriptionAsymmetrical upper limbs are a characteristic clinical manifestation. Thumb involvement is the most typical clinical manifestation and can range from absence or hypoplasia to the presence of a triphalangic thumb. Other upper limb anomalies include radial ray defects and carpal bone fusion. Upper limbs may be severely malformed. Extraocular motor disturbances and hearing loss of variable severity have also been reported. Some affected individuals have been reported to have mild thrombocytopenia, leukocytosis, shoulder girdle hypoplasia, cardiac involvement, kidney malrotation, intermediate anorectal malformation (see this term), or rectovaginal fistula. The clinical presentation is highly variable but lower limbs are normal. There have been reports of sudden death.EtiologyThe syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor involved in the maintenance and self-renewal of embryonic and hematopoietic stem cells. Okihiro syndrome (see this term) is a disorder allelic to IVIC syndrome.Genetic counselingIVIC syndrome is inherited in an autosomal dominant manner. Genetic counseling should be offered to affected families, informing them of the 50% chance of offspring inheriting the disease-causing mutation and therefore being affected with the syndrome.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ivic Syndrome, also known as oculootoradial syndrome, is related to acute zonal occult outer retinopathy and thrombocytopenia, and has symptoms including ophthalmoplegia An important gene associated with Ivic Syndrome is SALL4 (Spalt Like Transcription Factor 4). Affiliated tissues include bone, kidney and heart, and related phenotypes are hearing impairment and joint stiffness

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 147750

Related Diseases for Ivic Syndrome

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

# Related Disease Score Top Affiliating Genes
1 acute zonal occult outer retinopathy 10.2
2 thrombocytopenia 10.1

Symptoms & Phenotypes for Ivic Syndrome

Human phenotypes related to Ivic Syndrome:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
4 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
5 hypoplasia of the radius 60 33 hallmark (90%) Very frequent (99-80%) HP:0002984
6 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
7 abnormal dermatoglyphics 60 33 frequent (33%) Frequent (79-30%) HP:0007477
8 radioulnar synostosis 60 33 frequent (33%) Frequent (79-30%) HP:0002974
9 synostosis of carpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0005048
10 triphalangeal thumb 60 33 frequent (33%) Frequent (79-30%) HP:0001199
11 short thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009778
12 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
13 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
14 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
15 leukocytosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001974
16 rectovaginal fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0000143
17 preaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001177
18 aplastic clavicle 33 occasional (7.5%) HP:0006660
19 carpal bone hypoplasia 33 HP:0001498
20 limited elbow movement 33 HP:0002996
21 intestinal malrotation 33 HP:0002566
22 short 1st metacarpal 33 HP:0010034
23 external ophthalmoplegia 33 HP:0000544
24 limited wrist movement 33 HP:0006248
25 aplastic clavicles 60 Occasional (29-5%)
26 carpal synostosis 33 HP:0009702
27 small thenar eminence 33 HP:0001245
28 absent thumb 33 HP:0009777
29 limited interphalangeal movement 33 HP:0006064
30 hypoplasia of deltoid muscle 33 HP:0030241
31 pectoralis major hypoplasia 33 HP:0008953

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Skeletal Hands:
carpal bone hypoplasia
triphalangeal thumb
limited wrist movement
hypoplastic thumbs
absent thumbs
more
Abdomen Gastrointestinal:
rectovaginal fistula
imperforate anus

Head And Neck Ears:
hearing loss

Hematology:
mild thrombocytopenia (before age 50)
leukocytosis (before age 50)

Head And Neck Eyes:
strabismus
external ophthalmoplegia

Skeletal Limbs:
limited elbow movement
radioulnar synostosis
radial ray hypoplasia

Genitourinary Internal Genitalia Female:
rectovaginal fistula

Muscle Soft Tissue:
deltoid muscle hypoplasia
pectoralis major muscle hypoplasia

Clinical features from OMIM:

147750

UMLS symptoms related to Ivic Syndrome:


ophthalmoplegia

Drugs & Therapeutics for Ivic Syndrome

Search Clinical Trials , NIH Clinical Center for Ivic Syndrome

Genetic Tests for Ivic Syndrome

Genetic tests related to Ivic Syndrome:

# Genetic test Affiliating Genes
1 Ivic Syndrome 30 SALL4

Anatomical Context for Ivic Syndrome

MalaCards organs/tissues related to Ivic Syndrome:

42
Bone, Kidney, Heart, Eye

Publications for Ivic Syndrome

Articles related to Ivic Syndrome:

# 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
# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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