MCID: IVC001
MIFTS: 28

Ivic Syndrome

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

Aliases & Classifications for Ivic Syndrome

MalaCards integrated aliases for Ivic Syndrome:

Name: Ivic Syndrome 57 53 59 75 29 13 6 40
Oculootoradial Syndrome 57 53 75 73
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 57 53 59
Oors 57 53 75
Instituto Venezolano De Investigaciones Cientificas Syndrome 53
Oculootoradial Syndrome; Oors 57
Oculo-Oto-Radial Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
ivic syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Ivic Syndrome

NIH Rare Diseases : 53 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 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 scoliosis and hearing impairment

UniProtKB/Swiss-Prot : 75 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 thrombocytopenia 9.9

Symptoms & Phenotypes for Ivic Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ivic Syndrome:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
2 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
5 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
6 abnormal dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0007477
7 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
8 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
9 leukocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001974
10 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
11 radioulnar synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0002974
12 synostosis of carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0005048
13 rectovaginal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000143
14 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
15 triphalangeal thumb 59 32 frequent (33%) Frequent (79-30%) HP:0001199
16 hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0002984
17 short thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009778
18 carpal bone hypoplasia 32 HP:0001498
19 limited elbow movement 32 HP:0002996
20 intestinal malrotation 32 HP:0002566
21 short 1st metacarpal 32 HP:0010034
22 external ophthalmoplegia 32 HP:0000544
23 limited wrist movement 32 HP:0006248
24 aplastic clavicles 59 Occasional (29-5%)
25 carpal synostosis 32 HP:0009702
26 small thenar eminence 32 HP:0001245
27 absent thumb 32 HP:0009777
28 limited interphalangeal movement 32 HP:0006064
29 hypoplasia of deltoid muscle 32 HP:0030241
30 aplastic clavicle 32 occasional (7.5%) HP:0006660
31 pectoralis major hypoplasia 32 HP:0008953

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:

41
Bone, Kidney, Heart

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
2 SALL4 NM_020436.4(SALL4): c.1311_1321delAAACCCCCAGC (p.Asn438Valfs) deletion Pathogenic GRCh37 Chromosome 20, 50407701: 50407711
3 SALL4 NM_020436.4(SALL4): c.1311_1321delAAACCCCCAGC (p.Asn438Valfs) deletion Pathogenic GRCh38 Chromosome 20, 51791162: 51791172

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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