MCID: IVC001
MIFTS: 26

Ivic Syndrome malady

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

Aliases & Classifications for Ivic Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ivic Syndrome:

Name: Ivic Syndrome 49 11 45 51 67 24
Oculootoradial Syndrome 45 67 65
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
ivic syndrome:
Onset and clinical course: phenotypic variability
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 147750
Orphanet51 2307
ICD10 via Orphanet28 Q71.8
UMLS via Orphanet66 C1327918
MedGen34 C1327918
UMLS65 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 short stature, limitation of joint mobility and strabismus. 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
1thrombocytopenia9.9
2ophthalmoplegia9.9

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

UMLS symptoms related to Ivic Syndrome:


ophthalmoplegia

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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Anatomical Context for Ivic Syndrome

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MalaCards organs/tissues related to Ivic Syndrome:

33
Bone, Heart, Kidney, Bone marrow, Dorsal root ganglion

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