OORS
MCID: IVC001
MIFTS: 23

Ivic Syndrome (OORS) malady

Bone diseases, Fetal diseases, Blood diseases categories

Summaries for Ivic Syndrome

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46OMIM, 32MalaCards
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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 (sal-like 4 (Drosophila)). 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, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: 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


Aliases & Descriptions:

ivic syndrome 42 22 46 48
oculootoradial syndrome 42 60
radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia 42
instituto venezolano de investigaciones cientificas syndrome 42
oculo-oto-radial syndrome 48
oors 42


External Ids:

ICD10 via Orphanet26 Q71.8
OMIM46 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

Clinical Features for Ivic Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

147750

Clinical synopsis from OMIM:

147750

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ivic Syndrome

Drug clinical trials:

Search ClinicalTrials for Ivic Syndrome

Search NIH Clinical Center for Ivic Syndrome

Search CenterWatch 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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Sources:
32MalaCards
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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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Genetic Variations for Ivic Syndrome

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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet