IVIC
MCID: IVC001
MIFTS: 42

Ivic Syndrome (IVIC)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Ivic Syndrome

MalaCards integrated aliases for Ivic Syndrome:

Name: Ivic Syndrome 57 11 19 58 73 12 14 38 75
Oculootoradial Syndrome 57 11 19 73 28 5 43 71
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 57 11 19 58 73
Instituto Venezolano De Investigaciones Cientificas Syndrome 11 19
Oculo-Oto-Radial Syndrome 11 58
Ivic 57 73
Oors 11 19

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable phenotype
allelic disorder to duane-radial ray syndrome (drrs, )


Classifications:

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


Summaries for Ivic Syndrome

UniProtKB/Swiss-Prot: 73 An 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 with a similar phenotype.

MalaCards based summary: Ivic Syndrome, also known as oculootoradial syndrome, is related to onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome and deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome, and has symptoms including ophthalmoplegia An important gene associated with Ivic Syndrome is SALL4 (Spalt Like Transcription Factor 4), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include bone, eye and kidney, and related phenotypes are hearing impairment and joint stiffness

OMIM®: 57 IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007). (147750) (Updated 08-Dec-2022)

Disease Ontology: 11 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.

GARD: 19 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.

Orphanet: 58 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.

Wikipedia: 75 IVIC syndrome, also known as Instituto Venezolano de Investigaciónes Científicas syndrome or... more...

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 30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000365
2 joint stiffness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001387
3 strabismus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000486
4 hypoplasia of the radius 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002984
5 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
6 scoliosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0002650
7 abnormal dermatoglyphics 58 30 Frequent (33%) Frequent (79-30%)
HP:0007477
8 radioulnar synostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002974
9 short thumb 58 30 Very rare (1%) Frequent (79-30%)
HP:0009778
10 synostosis of carpal bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0005048
11 triphalangeal thumb 58 30 Very rare (1%) Frequent (79-30%)
HP:0001199
12 thrombocytopenia 58 30 Very rare (1%) Occasional (29-5%)
HP:0001873
13 arrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011675
14 anal atresia 58 30 Very rare (1%) Occasional (29-5%)
HP:0002023
15 preaxial hand polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001177
16 rectovaginal fistula 58 30 Very rare (1%) Occasional (29-5%)
HP:0000143
17 leukocytosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001974
18 aplastic clavicle 30 Occasional (7.5%) HP:0006660
19 frontal bossing 30 Very rare (1%) HP:0002007
20 tetralogy of fallot 30 Very rare (1%) HP:0001636
21 patent ductus arteriosus 30 Very rare (1%) HP:0001643
22 hypoplasia of the ulna 30 Very rare (1%) HP:0003022
23 short clavicles 30 Very rare (1%) HP:0000894
24 absent thumb 30 Very rare (1%) HP:0009777
25 short femur 30 Very rare (1%) HP:0003097
26 carpal synostosis 30 Very rare (1%) HP:0009702
27 preaxial polydactyly 30 Very rare (1%) HP:0100258
28 small thenar eminence 30 Very rare (1%) HP:0001245
29 paroxysmal tonic upgaze 30 Very rare (1%) HP:0033980
30 limited elbow movement 30 HP:0002996
31 intestinal malrotation 30 HP:0002566
32 short 1st metacarpal 30 HP:0010034
33 external ophthalmoplegia 30 HP:0000544
34 limited wrist movement 30 HP:0006248
35 aplastic clavicles 58 Occasional (29-5%)
36 carpal bone hypoplasia 30 HP:0001498
37 limited interphalangeal movement 30 HP:0006064
38 pectoralis major hypoplasia 30 HP:0008953
39 hypoplasia of deltoid muscle 30 HP:0030241

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis

Skeletal Limbs:
limited elbow movement
radioulnar synostosis
radial ray hypoplasia

Genitourinary Internal Genitalia Female:
rectovaginal fistula

Head And Neck Ears:
hearing loss

Muscle Soft Tissue:
deltoid muscle hypoplasia
pectoralis major muscle hypoplasia

Head And Neck Eyes:
strabismus
external ophthalmoplegia

Abdomen Gastrointestinal:
rectovaginal fistula
imperforate anus

Skeletal Hands:
triphalangeal thumb
limited wrist movement
carpal bone hypoplasia
limited interphalangeal movement
hypoplastic thumbs
more
Genitourinary Kidneys:
kidney malrotation

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

Clinical features from OMIM®:

147750 (Updated 08-Dec-2022)

UMLS symptoms related to Ivic Syndrome:


ophthalmoplegia

Drugs & Therapeutics for Ivic Syndrome

Search Clinical Trials, NIH Clinical Center for Ivic Syndrome

Cochrane evidence based reviews: oculootoradial syndrome

Genetic Tests for Ivic Syndrome

Genetic tests related to Ivic Syndrome:

# Genetic test Affiliating Genes
1 Oculootoradial Syndrome 28 SALL4

Anatomical Context for Ivic Syndrome

Organs/tissues related to Ivic Syndrome:

MalaCards : Bone, Eye, Kidney, Heart, Pancreas, Lung, Brain

Publications for Ivic Syndrome

Articles related to Ivic Syndrome:

(show top 50) (show all 67)
# Title Authors PMID Year
1
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. 62 57 5
17256792 2007
2
The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. 62 57 5
7395922 1980
3
Monozygotic twins discordant for the oculo-oto-radial syndrome (IVIC syndrome). 62 57
9327262 1997
4
IVIC syndrome report by Czeizel et al. 62 57
2764040 1989
5
IVIC syndrome: report of a third family. 62 57
2764039 1989
6
IVIC syndrome: report of a second family. 62 57
3400733 1988
7
Addition of intravitreal carboplatin with melphalan for management of vitreous seeding in retinoblastoma. 62
36401651 2022
8
Determination of reference intervals from a laboratory database of an academic clinical research unit in a tertiary care teaching hospital and an audit of out of range values. 62
34760646 2021
9
Alterations of Serum Biochemical and Urinary Parameters in a Canine Population before and after Intravenous Contrast Administration. 62
34437469 2021
10
Recommendations for building out mosquito-transmitted diseases in sub-Saharan Africa: the DELIVER mnemonic. 62
33357059 2021
11
Globe salvage treatment in group D and group E retinoblastoma. 62
33817429 2021
12
Perceptions of the Cardiologists and Oncologists: Initial Step for Establishing Cardio-Oncology Service. 62
34917654 2021
13
Lean approach to the management of patients undergoing intravitreal injections during COVID-19 pandemic. 62
34212127 2021
14
Safety and Efficacy of Intravitreal Chemotherapy (Melphalan) to Treat Vitreous Seeds in Retinoblastoma. 62
34322023 2021
15
Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder. 62
32587205 2020
16
Evaluation of Microvascular Structure Changes after Conbercept Treatment on Macular Edema Secondary to Retinal Vein Occlusion. 62
32685542 2020
17
SALL4 mediates teratogenicity as a thalidomide-dependent cereblon substrate. 62
30190590 2018
18
Leptospira venezuelensis sp. nov., a new member of the intermediate group isolated from rodents, cattle and humans. 62
29239713 2018
19
Diagnosis and management of secondary epipapillary retinoblastoma. 62
28183830 2017
20
The critical gap for pediatric reference intervals of complete blood count in China. 62
28315660 2017
21
Toxic effects of melphalan, topotecan and carboplatin on retinal pigment epithelial cells. 62
26893290 2016
22
Alternated intra-arterial and intravitreal chemotherapy for advanced intraocular retinoblastoma: preliminary successful results without systemic chemotherapy. 62
26416040 2015
23
Overview of systematic reviews - a new type of study. Part II. 62
25388685 2015
24
First Report of Colletotrichum fioriniae Causing Postharvest Decay on 'Nittany' Apple Fruit in the United States. 62
30708891 2014
25
Genetic variations of beta-MYH7 in Venezuelan patients with hypertrophic cardiomyopathy. 62
24758099 2014
26
Intravitreal chemotherapy for vitreous seeding in retinoblastoma: Recent advances and perspectives. 62
24227979 2013
27
Infusion volume control and calculation using metronome and drop counter based intravenous infusion therapy helper. 62
23730857 2013
28
Intravitreal chemotherapy for vitreous disease in retinoblastoma revisited: from prohibition to conditional indications. 62
22694968 2012
29
Overview of systematic reviews - a new type of study: part I: why and for whom? 62
23338737 2012
30
[Progress of study on the transcription factor SALL4]. 62
21729579 2011
31
Magnetic marker monitoring: high resolution real-time tracking of oral solid dosage forms in the gastrointestinal tract. 62
19619649 2010
32
Effect of leukocyte inhibitors benzydamine and cyclophosphamide, on lung injury caused by Tityus discrepans scorpion venom. 62
17884126 2007
33
First Report of Tomato yellow leaf curl virus in Venezuela. 62
30780492 2007
34
[Venezuelan Virology Network]. 62
15782531 2005
35
[Spontaneous motor activity and brain catecholamines in C57BL/6 and albino mice treated with manganese]. 62
15058754 2004
36
Application of a convective-dispersion model to predict in vivo hepatic clearance from in vitro measurements utilizing cryopreserved human hepatocytes. 62
14529368 2003
37
[IVIC syndrome]. 62
11528694 2001
38
Overview of some biomedical research projects in tropical medicine conducted at the Instituto Venezolano de Investigaciones Cientificas. 62
11142721 2000
39
Unilateral testing of utricular function. 62
9746153 1998
40
Effect of otolith dysfunction. Impairment of visual acuity during linear head motion in labyrinthine defective subjects. 62
9217684 1997
41
Skeletal and cardiac malformations with thrombocytopenia: a new syndrome? 62
8862629 1996
42
Presence of curarizing polypeptides and a pancreatitis-inducing fraction without muscarinic effects in the venom of the Venezuelan scorpion Tityus discrepans (Karsch). 62
7638872 1995
43
Distribution and characterization of plasmids in oral anaerobic spirochetes. 62
7644276 1995
44
IVIC/Vetstream. 62
7975091 1994
45
IVIC/Vetstream. 62
7975068 1994
46
A comparison of the molecular biology of trypanosomes and leishmaniae, and its impact on the development of methods for the diagnosis and vaccination of leishmaniasis and Chagas disease. 62
7670534 1993
47
Monozygotic twin girls with congenital malformations resembling fanconi anemia. 62
1554014 1992
48
Mutants of Paracoccidioides brasiliensis strain IVIC Pb9 affected in dimorphism. 62
1573521 1992
49
Suppression of IgE antibody production against an unrelated antigen in experimental murine paracoccidioidomycosis. 62
2795403 1989
50
Evaluation of the pathogenicity and immunogenicity of seven Paracoccidioides brasiliensis isolates in susceptible inbred mice. 62
2746437 1989

Variations for Ivic Syndrome

ClinVar genetic disease variations for Ivic Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SALL4 NM_020436.5(SALL4):c.2607del (p.Gln869fs) DEL Pathogenic
3330 rs1601166963 GRCh37: 20:50405535-50405535
GRCh38: 20:51788996-51788996
2 SALL4 NM_020436.5(SALL4):c.131-2del DEL Likely Pathogenic
624200 rs1568866374 GRCh37: 20:50408893-50408893
GRCh38: 20:51792354-51792354
3 SALL4 NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu) SNV Uncertain Significance
982635 rs2078023413 GRCh37: 20:50406600-50406600
GRCh38: 20:51790061-51790061
4 SALL4 NM_020436.5(SALL4):c.1056G>A (p.Ala352=) SNV Benign
261258 rs13038893 GRCh37: 20:50407966-50407966
GRCh38: 20:51791427-51791427
5 SALL4 NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) SNV Benign
261259 rs6126344 GRCh37: 20:50407502-50407502
GRCh38: 20:51790963-51790963
6 SALL4 NM_020436.5(SALL4):c.1860A>G (p.Thr620=) SNV Benign
261260 rs6021437 GRCh37: 20:50407162-50407162
GRCh38: 20:51790623-51790623
7 SALL4 NM_020436.5(SALL4):c.540T>C (p.Asn180=) SNV Benign
261264 rs6013281 GRCh37: 20:50408482-50408482
GRCh38: 20:51791943-51791943

Expression for Ivic Syndrome

Search GEO for disease gene expression data for Ivic Syndrome.

Pathways for Ivic Syndrome

Pathways related to Ivic Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.19 SALL4 SALL1

GO Terms for Ivic Syndrome

Cellular components related to Ivic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterochromatin GO:0000792 8.92 SALL4 SALL1

Biological processes related to Ivic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein targeting to membrane GO:0006612 9.62 RTP2 RTP1
2 detection of chemical stimulus involved in sensory perception of bitter taste GO:0001580 9.56 RTP2 RTP1
3 ventricular septum development GO:0003281 9.26 SALL4 SALL1
4 neural tube development GO:0021915 9.16 SALL4 SALL2
5 protein insertion into membrane GO:0051205 8.92 RTP2 RTP1

Molecular functions related to Ivic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 SALL4 SALL3 SALL2 SALL1 HOXA9
2 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 9.65 SALL4 SALL3 SALL2 SALL1 HOXA9
3 olfactory receptor binding GO:0031849 8.92 RTP2 RTP1

Sources for Ivic Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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