MCID: IVC001
MIFTS: 29

Ivic Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases categories

Aliases & Classifications for Ivic Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Ivic Syndrome:

Name: Ivic Syndrome 49 11 45 51 24 67
Oculootoradial Syndrome 45 65 67
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 45 51
 
Oors 45 67
Instituto Venezolano De Investigaciones Cientificas Syndrome 45
Oculo-Oto-Radial Syndrome 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
ivic syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

OMIM49 147750
Orphanet51 2307
ICD10 via Orphanet28 Q71.8
UMLS via Orphanet66 C1327918
MedGen34 C1327918

Summaries for Ivic Syndrome

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UniProtKB/Swiss-Prot:67 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 ophthalmoplegia, and has symptoms including hearing impairment, strabismus and limitation of joint mobility. An important gene associated with Ivic Syndrome is SALL4 (Spalt-Like Transcription Factor 4). Affiliated tissues include bone, heart and kidney.

Description from OMIM:49 147750

Related Diseases for Ivic Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia10.2
2ophthalmoplegia10.2

Symptoms for Ivic Syndrome

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Symptoms by clinical synopsis from OMIM:

147750

Clinical features from OMIM:

147750

Symptoms:

 51 (show all 18)
  • strabismus/squint
  • hearing loss/hypoacusia/deafness
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • scoliosis
  • radioulnar synostosis
  • carpal bones fusion/synostosis
  • abnormal dermatoglyphics
  • thumb hypoplasia/aplasia/absence
  • fingerlike/triphalangeal thumb
  • clavicle absent/abnormal
  • preaxial polydactyly (hand)
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • hyperleukocytosis/leukocytosis
  • thrombocytopenia/thrombopenia

HPO human phenotypes related to Ivic Syndrome:

(show all 40)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 strabismus hallmark (90%) HP:0000486
3 limitation of joint mobility hallmark (90%) HP:0001376
4 short stature hallmark (90%) HP:0004322
5 triphalangeal thumb typical (50%) HP:0001199
6 scoliosis typical (50%) HP:0002650
7 radioulnar synostosis typical (50%) HP:0002974
8 synostosis of carpal bones typical (50%) HP:0005048
9 abnormal dermatoglyphics typical (50%) HP:0007477
10 aplasia/hypoplasia of the thumb typical (50%) HP:0009601
11 abnormality of the clavicle occasional (7.5%) HP:0000889
12 preaxial hand polydactyly occasional (7.5%) HP:0001177
13 thrombocytopenia occasional (7.5%) HP:0001873
14 leukocytosis occasional (7.5%) HP:0001974
15 arrhythmia occasional (7.5%) HP:0011675
16 urogenital fistula occasional (7.5%) HP:0100589
17 autosomal dominant inheritance HP:0000006
18 rectovaginal fistula HP:0000143
19 hearing impairment HP:0000365
20 strabismus HP:0000486
21 external ophthalmoplegia HP:0000544
22 triphalangeal thumb HP:0001199
23 small thenar eminence HP:0001245
24 carpal bone hypoplasia HP:0001498
25 thrombocytopenia HP:0001873
26 leukocytosis HP:0001974
27 anal atresia HP:0002023
28 intestinal malrotation HP:0002566
29 scoliosis HP:0002650
30 radioulnar synostosis HP:0002974
31 hypoplasia of the radius HP:0002984
32 limited elbow movement HP:0002996
33 phenotypic variability HP:0003812
34 limited interphalangeal movement HP:0006064
35 limited wrist movement HP:0006248
36 pectoralis major hypoplasia HP:0008953
37 carpal synostosis HP:0009702
38 absent thumb HP:0009777
39 short 1st metacarpal HP:0010034
40 hypoplasia of deltoid muscle HP:0030241

Drugs & Therapeutics for Ivic Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274

Search NIH Clinical Center for Ivic Syndrome

Genetic Tests for Ivic Syndrome

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Genetic tests related to Ivic Syndrome:

id Genetic test Affiliating Genes
1 Ivic Syndrome24

Anatomical Context for Ivic Syndrome

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MalaCards organs/tissues related to Ivic Syndrome:

33
Bone, Heart, Kidney, Bone marrow

Animal Models for Ivic Syndrome or affiliated genes

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Publications for Ivic Syndrome

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Articles related to Ivic Syndrome:

idTitleAuthorsYear
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 by Czeizel et al. (2764040)
1989
4
IVIC syndrome: report of a third family. (2764039)
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

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Clinvar genetic disease variations for Ivic Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SALL4SALL4, 1-BP DEL, 2607AdeletionPathogenic

Expression for genes affiliated with Ivic Syndrome

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Search GEO for disease gene expression data for Ivic Syndrome.

Pathways for genes affiliated with Ivic Syndrome

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GO Terms for genes affiliated with Ivic Syndrome

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Sources for Ivic Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet