OORS
MCID: IVC001
MIFTS: 28

Ivic Syndrome (OORS) malady

Rare diseases, Bone diseases, Fetal diseases, Blood diseases categories
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Summaries for Ivic Syndrome

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MalaCards based summary: Ivic Syndrome, also known as instituto venezolano de investigaciones cientificas syndrome, is related to thrombocytopenia and ophthalmoplegia, and has symptoms including strabismus/squint, hearing loss/hypoacusia/deafness and radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray. An important gene associated with Ivic Syndrome is SALL4 (spalt-like transcription factor 4). Affiliated tissues include bone and heart.

Description from OMIM:46 147750

Aliases & Classifications for Ivic Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Ivic Syndrome, Aliases & Descriptions:

Name: Ivic Syndrome 42 22 46 48
Instituto Venezolano De Investigaciones Cientificas Syndrome 42 62
Oculootoradial Syndrome 42 62
 
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia 42
Oculo-Oto-Radial Syndrome 48
Oors 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
ivic syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 147750
ICD10 via Orphanet26 Q71.8
UMLS via Orphanet63 C1327918

Related Diseases for Ivic Syndrome

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Diseases related to Ivic Syndrome via text searches within MalaCards or GeneCards/GeneDecks 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:

48 (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 41)
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 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
6 triphalangeal thumb typical (50%) HP:0001199
7 scoliosis typical (50%) HP:0002650
8 radioulnar synostosis typical (50%) HP:0002974
9 synostosis of carpal bones typical (50%) HP:0005048
10 abnormal dermatoglyphics typical (50%) HP:0007477
11 aplasia/hypoplasia of the thumb typical (50%) HP:0009601
12 abnormality of the clavicles occasional (7.5%) HP:0000889
13 preaxial hand polydactyly occasional (7.5%) HP:0001177
14 thrombocytopenia occasional (7.5%) HP:0001873
15 leukocytosis occasional (7.5%) HP:0001974
16 arrhythmia occasional (7.5%) HP:0011675
17 urogenital fistula occasional (7.5%) HP:0100589
18 autosomal dominant inheritance HP:0000006
19 rectovaginal fistula HP:0000143
20 hearing impairment HP:0000365
21 strabismus HP:0000486
22 external ophthalmoplegia HP:0000544
23 triphalangeal thumb HP:0001199
24 small thenar eminence HP:0001245
25 carpal bone hypoplasia HP:0001498
26 thrombocytopenia HP:0001873
27 leukocytosis HP:0001974
28 anal atresia HP:0002023
29 intestinal malrotation HP:0002566
30 scoliosis HP:0002650
31 radioulnar synostosis HP:0002974
32 hypoplasia of the radius HP:0002984
33 limited elbow movement HP:0002996
34 phenotypic variability HP:0003812
35 limited interphalangeal movement HP:0006064
36 limited wrist movement HP:0006248
37 pectoralis major hypoplasia HP:0008953
38 hypoplasia of deltoid muscle HP:0009044
39 carpal synostosis HP:0009702
40 absent thumb HP:0009777
41 short 1st metacarpal HP:0010034

Drugs & Therapeutics for Ivic Syndrome

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Drug clinical trials:

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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 Syndrome22

Anatomical Context for Ivic Syndrome

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MalaCards organs/tissues related to Ivic Syndrome:

32
Bone, Heart

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:

6
id Gene Name 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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Compounds for genes affiliated with Ivic Syndrome

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GO Terms for genes affiliated with Ivic Syndrome

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Products for genes affiliated with Ivic Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Ivic Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet