OORS
MCID: IVC001
MIFTS: 32

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 56 12 52 58 73 36 29 13 6 39
Oculootoradial Syndrome 56 12 52 73 71
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 56 12 52 58
Oors 56 12 52 73
Instituto Venezolano De Investigaciones Cientificas Syndrome 12 52
Oculo-Oto-Radial Syndrome 12 58
Oculootoradial Syndrome; Oors 56

Characteristics:

Orphanet epidemiological data:

58
ivic syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
ivic syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Ivic Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2307 Definition IVIC 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 . Epidemiology Prevalence of IVIC is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins ) have been described. Clinical description Asymmetrical 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. Etiology The 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 counseling IVIC 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 cystic fibrosis and strabismus, 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

Disease Ontology : 12 A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has material basis in heterozygous mutation in SALL4 on chromosome 20q13.2.

KEGG : 36 The IVIC syndrome is an autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the SALL4. SALL4 encodes a transcription factor with a wide expression in early embryogenesis, and later expression restricted to adult testis and ovary.

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 147750

Related Diseases for Ivic Syndrome

Graphical network of the top 20 diseases related to Ivic Syndrome:



Diseases related to Ivic Syndrome

Symptoms & Phenotypes for Ivic Syndrome

Human phenotypes related to Ivic Syndrome:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
4 hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002984
5 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
6 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
7 abnormal dermatoglyphics 58 31 frequent (33%) Frequent (79-30%) HP:0007477
8 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
9 short thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009778
10 synostosis of carpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0005048
11 triphalangeal thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001199
12 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
13 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
14 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
15 leukocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001974
16 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
17 rectovaginal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000143
18 aplastic clavicle 31 occasional (7.5%) HP:0006660
19 carpal bone hypoplasia 31 HP:0001498
20 limited elbow movement 31 HP:0002996
21 intestinal malrotation 31 HP:0002566
22 external ophthalmoplegia 31 HP:0000544
23 short 1st metacarpal 31 HP:0010034
24 absent thumb 31 HP:0009777
25 limited wrist movement 31 HP:0006248
26 aplastic clavicles 58 Occasional (29-5%)
27 carpal synostosis 31 HP:0009702
28 small thenar eminence 31 HP:0001245
29 limited interphalangeal movement 31 HP:0006064
30 pectoralis major hypoplasia 31 HP:0008953
31 hypoplasia of deltoid muscle 31 HP:0030241

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Skeletal Hands:
carpal bone hypoplasia
triphalangeal thumb
limited wrist movement
limited interphalangeal movement
hypoplastic 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 29 SALL4

Anatomical Context for Ivic Syndrome

MalaCards organs/tissues related to Ivic Syndrome:

40
Bone, Kidney, Heart, Ovary, Testis, Eye

Publications for Ivic Syndrome

Articles related to Ivic Syndrome:

# Title Authors PMID Year
1
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. 61 56 6
17256792 2007
2
Monozygotic twins discordant for the oculo-oto-radial syndrome (IVIC syndrome). 61 56
9327262 1997
3
IVIC syndrome: report of a third family. 61 56
2764039 1989
4
IVIC syndrome report by Czeizel et al. 61 56
2764040 1989
5
IVIC syndrome: report of a second family. 61 56
3400733 1988
6
The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. 61 56
7395922 1980
7
[Progress of study on the transcription factor SALL4]. 61
21729579 2011
8
[IVIC syndrome]. 61
11528694 2001
9
Skeletal and cardiac malformations with thrombocytopenia: a new syndrome? 61
8862629 1996

Variations for Ivic Syndrome

ClinVar genetic disease variations for Ivic Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SALL4 NM_020436.5(SALL4):c.2607del (p.Gln869fs)deletion Pathogenic 3330 20:50405535-50405535 20:51788996-51788996

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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