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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Sources:
47OMIM, 33MalaCards
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MalaCards: Ivic Syndrome, also known as oculootoradial syndrome, is related to ophthalmoplegia and thrombocytopenia, and has symptoms including fingerlike/triphalangeal thumb, clavicle absent/abnormal and preaxial polydactyly (hand). An important gene associated with Ivic Syndrome is SALL4 (spalt-like transcription factor 4). Affiliated tissues include bone and heart.

Description from OMIM:47 147750

Aliases & Classifications for Ivic Syndrome

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Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 63UMLS via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
ivic syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ivic syndrome 43 22 47 49
oculootoradial syndrome 43 62
radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia 43
instituto venezolano de investigaciones cientificas syndrome 43
oculo-oto-radial syndrome 49
oors 43


External Ids:

UMLS via Orphanet63 C1327918
ICD10 via Orphanet26 Q71.8
OMIM47 147750

Related Diseases for Ivic Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ivic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

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

Symptoms for Ivic Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

147750

Clinical features from OMIM:

147750

Symptoms:

49 (show all 18)
  • 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
  • thumb hypoplasia/aplasia/absence
  • abnormal dermatoglyphics
  • 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
  • strabismus/squint

Drugs & Therapeutics for Ivic Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Ivic Syndrome

Search NIH Clinical Center for Ivic Syndrome

Genetic Tests for Ivic Syndrome

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Sources:
22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Ivic Syndrome:

33
Bone, Heart

Animal Models for Ivic Syndrome or affiliated genes

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Publications for Ivic Syndrome

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Sources:
52PubMed
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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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Ivic Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SALL4SALL4, 1-BP DEL, 2607AdeletionPathogenic/card/ivic_syndrome

Expression for genes affiliated with Ivic Syndrome

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Sources:
15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Ivic Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet