Ivic Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Ivic Syndrome

MalaCards integrated aliases for Ivic Syndrome:

Name: Ivic Syndrome ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ⁷³ ¹² ¹⁴ ³⁸ ⁷⁵

Oculootoradial Syndrome ⁵⁷ ¹¹ ¹⁹ ⁷³ ²⁸ ⁵ ⁴³ ⁷¹

Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ⁷³

Instituto Venezolano De Investigaciones Cientificas Syndrome ¹¹ ¹⁹

Oculo-Oto-Radial Syndrome ¹¹ ⁵⁸

Ivic ⁵⁷ ⁷³

Oors ¹¹ ¹⁹

Characteristics:

Inheritance:

Autosomal dominant ⁵⁸ ⁵⁷

Prevelance:

<1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Antenatal,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
highly variable phenotype
allelic disorder to duane-radial ray syndrome (drrs, )

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Reduction defects of upper limb

Other reduction defects of upper limb(s)

Orphanet: ⁵⁸

Rare eye diseases

Rare bone diseases

Developmental anomalies during embryogenesis

Sources

Summaries for Ivic Syndrome

UniProtKB/Swiss-Prot: ⁷³ An 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 with a similar phenotype.

MalaCards based summary: Ivic Syndrome, also known as oculootoradial syndrome, is related to onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome and deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome, and has symptoms including ophthalmoplegia An important gene associated with Ivic Syndrome is SALL4 (Spalt Like Transcription Factor 4), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include bone, eye and kidney, and related phenotypes are hearing impairment and joint stiffness

OMIM®: ⁵⁷ IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007). (147750) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has material basis in heterozygous mutation in SALL4 on chromosome 20q13.2.

GARD: ¹⁹ IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

Orphanet: ⁵⁸ IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

Wikipedia: ⁷⁵ IVIC syndrome, also known as Instituto Venezolano de Investigaciónes Científicas syndrome or... more...

Sources

Related Diseases for Ivic Syndrome

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

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	11.5
2	deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome	11.0
3	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.1
4	strabismus	10.1
5	anus, imperforate	10.1
6	progressive familial heart block, type ia	10.0
7	holt-oram syndrome	10.0
8	kearns-sayre syndrome	10.0
9	progressive familial heart block, type ib	10.0
10	progressive familial heart block	10.0
11	right bundle branch block	10.0
12	thrombocytopenia	10.0
13	ectodermal dysplasia	10.0
14	fetal thalidomide syndrome	10.0
15	duane retraction syndrome	9.8	SALL4 SALL1
16	duane-radial ray syndrome	9.5	SALL4 SALL3 SALL2 SALL1
17	townes-brocks syndrome	9.4	SALL4 SALL3 SALL2 SALL1

Graphical network of the top 20 diseases related to Ivic Syndrome:

Sources

Symptoms & Phenotypes for Ivic Syndrome

Human phenotypes related to Ivic Syndrome:

⁵⁸ ³⁰ (show all 39)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hearing impairment ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0000365
2	joint stiffness ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001387
3	strabismus ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0000486
4	hypoplasia of the radius ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002984
5	severe short stature ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003510
6	scoliosis ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0002650
7	abnormal dermatoglyphics ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007477
8	radioulnar synostosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002974
9	short thumb ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0009778
10	synostosis of carpal bones ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005048
11	triphalangeal thumb ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001199
12	thrombocytopenia ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0001873
13	arrhythmia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0011675
14	anal atresia ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0002023
15	preaxial hand polydactyly ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001177
16	rectovaginal fistula ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0000143
17	leukocytosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001974
18	aplastic clavicle ³⁰	Occasional (7.5%)		HP:0006660
19	frontal bossing ³⁰	Very rare (1%)		HP:0002007
20	tetralogy of fallot ³⁰	Very rare (1%)		HP:0001636
21	patent ductus arteriosus ³⁰	Very rare (1%)		HP:0001643
22	hypoplasia of the ulna ³⁰	Very rare (1%)		HP:0003022
23	short clavicles ³⁰	Very rare (1%)		HP:0000894
24	absent thumb ³⁰	Very rare (1%)		HP:0009777
25	short femur ³⁰	Very rare (1%)		HP:0003097
26	carpal synostosis ³⁰	Very rare (1%)		HP:0009702
27	preaxial polydactyly ³⁰	Very rare (1%)		HP:0100258
28	small thenar eminence ³⁰	Very rare (1%)		HP:0001245
29	paroxysmal tonic upgaze ³⁰	Very rare (1%)		HP:0033980
30	limited elbow movement ³⁰			HP:0002996
31	intestinal malrotation ³⁰			HP:0002566
32	short 1st metacarpal ³⁰			HP:0010034
33	external ophthalmoplegia ³⁰			HP:0000544
34	limited wrist movement ³⁰			HP:0006248
35	aplastic clavicles ⁵⁸		Occasional (29-5%)
36	carpal bone hypoplasia ³⁰			HP:0001498
37	limited interphalangeal movement ³⁰			HP:0006064
38	pectoralis major hypoplasia ³⁰			HP:0008953
39	hypoplasia of deltoid muscle ³⁰			HP:0030241

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skeletal Spine:
scoliosis

Skeletal Limbs:
limited elbow movement
radioulnar synostosis
radial ray hypoplasia

Genitourinary Internal Genitalia Female:
rectovaginal fistula

Head And Neck Ears:
hearing loss

Muscle Soft Tissue:
deltoid muscle hypoplasia
pectoralis major muscle hypoplasia

Head And Neck Eyes:
strabismus
external ophthalmoplegia

Abdomen Gastrointestinal:
rectovaginal fistula
imperforate anus

Skeletal Hands:
triphalangeal thumb
limited wrist movement
carpal bone hypoplasia
limited interphalangeal movement
hypoplastic thumbs
more

Genitourinary Kidneys:
kidney malrotation

Hematology:
mild thrombocytopenia (before age 50)
leukocytosis (before age 50)

Clinical features from OMIM®:

147750 (Updated 08-Dec-2022)

UMLS symptoms related to Ivic Syndrome:

ophthalmoplegia

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Drugs & Therapeutics for Ivic Syndrome

Search Clinical Trials, NIH Clinical Center for Ivic Syndrome

Cochrane evidence based reviews: oculootoradial syndrome

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Genetic Tests for Ivic Syndrome

Genetic tests related to Ivic Syndrome:

#	Genetic test	Affiliating Genes
1	Oculootoradial Syndrome ²⁸	SALL4

Sources

Anatomical Context for Ivic Syndrome

Organs/tissues related to Ivic Syndrome:

MalaCards : Bone, Eye, Kidney, Heart, Pancreas, Lung, Brain

Sources

Publications for Ivic Syndrome

Articles related to Ivic Syndrome:

(show top 50) (show all 67)

#	Title	Authors	PMID	Year
1	IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. ⁶² ⁵⁷ ⁵	Paradisi I...Arias S	17256792	2007
2	The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. ⁶² ⁵⁷ ⁵	Arias S...Larrauri S	7395922	1980
3	Monozygotic twins discordant for the oculo-oto-radial syndrome (IVIC syndrome). ⁶² ⁵⁷	Elcioglu N...Berry AC	9327262	1997
4	IVIC syndrome report by Czeizel et al. ⁶² ⁵⁷	Neri G...Sammito V	2764040	1989
5	IVIC syndrome: report of a third family. ⁶² ⁵⁷	Czeizel A...Kodaj I	2764039	1989
6	IVIC syndrome: report of a second family. ⁶² ⁵⁷	Sammito V...Neri G	3400733	1988
7	Addition of intravitreal carboplatin with melphalan for management of vitreous seeding in retinoblastoma. ⁶²	Riazi-Esfahani H...Ghassemi F	36401651	2022
8	Determination of reference intervals from a laboratory database of an academic clinical research unit in a tertiary care teaching hospital and an audit of out of range values. ⁶²	Figer BH...Thatte UM	34760646	2021
9	Alterations of Serum Biochemical and Urinary Parameters in a Canine Population before and after Intravenous Contrast Administration. ⁶²	Cagnasso F...Gianella P	34437469	2021
10	Recommendations for building out mosquito-transmitted diseases in sub-Saharan Africa: the DELIVER mnemonic. ⁶²	Lindsay SW...Knudsen J	33357059	2021
11	Globe salvage treatment in group D and group E retinoblastoma. ⁶²	Hussain AK...Davide B	33817429	2021
12	Perceptions of the Cardiologists and Oncologists: Initial Step for Establishing Cardio-Oncology Service. ⁶²	Farhan HA...Yaseen IF	34917654	2021
13	Lean approach to the management of patients undergoing intravitreal injections during COVID-19 pandemic. ⁶²	Verolino M...Costagliola C	34212127	2021
14	Safety and Efficacy of Intravitreal Chemotherapy (Melphalan) to Treat Vitreous Seeds in Retinoblastoma. ⁶²	Yousef YA...Al-Nawaiseh I	34322023	2021
15	Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder. ⁶²	Pandey PK...Saraf P	32587205	2020
16	Evaluation of Microvascular Structure Changes after Conbercept Treatment on Macular Edema Secondary to Retinal Vein Occlusion. ⁶²	Song W...Zhao B	32685542	2020
17	SALL4 mediates teratogenicity as a thalidomide-dependent cereblon substrate. ⁶²	Matyskiela ME...Chamberlain PP	30190590	2018
18	Leptospira venezuelensis sp. nov., a new member of the intermediate group isolated from rodents, cattle and humans. ⁶²	Puche R...Iraola G	29239713	2018
19	Diagnosis and management of secondary epipapillary retinoblastoma. ⁶²	Fabian ID...Munier FL	28183830	2017
20	The critical gap for pediatric reference intervals of complete blood count in China. ⁶²	Lv Y...Peng X	28315660	2017
21	Toxic effects of melphalan, topotecan and carboplatin on retinal pigment epithelial cells. ⁶²	Susskind D...Aisenbrey S	26893290	2016
22	Alternated intra-arterial and intravitreal chemotherapy for advanced intraocular retinoblastoma: preliminary successful results without systemic chemotherapy. ⁶²	De Francesco S...Hadjistilianou T	26416040	2015
23	Overview of systematic reviews - a new type of study. Part II. ⁶²	Silva V...Riera R	25388685	2015
24	First Report of Colletotrichum fioriniae Causing Postharvest Decay on 'Nittany' Apple Fruit in the United States. ⁶²	Kou LP...Jurick WM	30708891	2014
25	Genetic variations of beta-MYH7 in Venezuelan patients with hypertrophic cardiomyopathy. ⁶²	Rodriguez R...Flores Y	24758099	2014
26	Intravitreal chemotherapy for vitreous seeding in retinoblastoma: Recent advances and perspectives. ⁶²	Munier FL...Beck-Popovic M	24227979	2013
27	Infusion volume control and calculation using metronome and drop counter based intravenous infusion therapy helper. ⁶²	Park K...Hong S	23730857	2013
28	Intravitreal chemotherapy for vitreous disease in retinoblastoma revisited: from prohibition to conditional indications. ⁶²	Munier FL...Beck-Popovic M	22694968	2012
29	Overview of systematic reviews - a new type of study: part I: why and for whom? ⁶²	Silva V...Carvalho AP	23338737	2012
30	[Progress of study on the transcription factor SALL4]. ⁶²	Lin J...Qian J	21729579	2011
31	Magnetic marker monitoring: high resolution real-time tracking of oral solid dosage forms in the gastrointestinal tract. ⁶²	Weitschies W...Monnikes H	19619649	2010
32	Effect of leukocyte inhibitors benzydamine and cyclophosphamide, on lung injury caused by Tityus discrepans scorpion venom. ⁶²	D'Suze G...Brazon J	17884126	2007
33	First Report of Tomato yellow leaf curl virus in Venezuela. ⁶²	Zambrano K...Marys E	30780492	2007
34	[Venezuelan Virology Network]. ⁶²	Anez G	15782531	2005
35	[Spontaneous motor activity and brain catecholamines in C57BL/6 and albino mice treated with manganese]. ⁶²	Martinez HJ...Bonilla E	15058754	2004
36	Application of a convective-dispersion model to predict in vivo hepatic clearance from in vitro measurements utilizing cryopreserved human hepatocytes. ⁶²	Niro R...Bachmann K	14529368	2003
37	[IVIC syndrome]. ⁶²	Iwasaki K	11528694	2001
38	Overview of some biomedical research projects in tropical medicine conducted at the Instituto Venezolano de Investigaciones Cientificas. ⁶²	Romano E...Takiff H	11142721	2000
39	Unilateral testing of utricular function. ⁶²	Clarke AH...Engelhorn A	9746153	1998
40	Effect of otolith dysfunction. Impairment of visual acuity during linear head motion in labyrinthine defective subjects. ⁶²	Lempert T...Bronstein AM	9217684	1997
41	Skeletal and cardiac malformations with thrombocytopenia: a new syndrome? ⁶²	Rupps R...Der Kaloustian VM	8862629	1996
42	Presence of curarizing polypeptides and a pancreatitis-inducing fraction without muscarinic effects in the venom of the Venezuelan scorpion Tityus discrepans (Karsch). ⁶²	D'Suze G...Ramos M	7638872	1995
43	Distribution and characterization of plasmids in oral anaerobic spirochetes. ⁶²	Caudry S...Chan EC	7644276	1995
44	IVIC/Vetstream. ⁶²	Grieve J...Belgrave J	7975091	1994
45	IVIC/Vetstream. ⁶²	Davies M	7975068	1994
46	A comparison of the molecular biology of trypanosomes and leishmaniae, and its impact on the development of methods for the diagnosis and vaccination of leishmaniasis and Chagas disease. ⁶²	O'Daly JA	7670534	1993
47	Monozygotic twin girls with congenital malformations resembling fanconi anemia. ⁶²	Poole SR...Auerbach AD	1554014	1992
48	Mutants of Paracoccidioides brasiliensis strain IVIC Pb9 affected in dimorphism. ⁶²	San-Blas F...San-Blas G	1573521	1992
49	Suppression of IgE antibody production against an unrelated antigen in experimental murine paracoccidioidomycosis. ⁶²	Amarante-Mendes JG...Macedo MS	2795403	1989
50	Evaluation of the pathogenicity and immunogenicity of seven Paracoccidioides brasiliensis isolates in susceptible inbred mice. ⁶²	Singer-Vermes LM...Calich VL	2746437	1989

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Genes for Ivic Syndrome

Genes related to Ivic Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SALL4	Spalt Like Transcription Factor 4	Protein Coding	1448.62	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	7395922 17256792
2	SALL1	Spalt Like Transcription Factor 1	Protein Coding	6.18	DISEASES inferred ¹⁴
3	RTP2	Receptor Transporter Protein 2	Protein Coding	6.06	DISEASES inferred ¹⁴
4	SALL3	Spalt Like Transcription Factor 3	Protein Coding	6.05	DISEASES inferred ¹⁴
5	RTP1	Receptor Transporter Protein 1	Protein Coding	5.96	DISEASES inferred ¹⁴
6	OPRL1	Opioid Related Nociceptin Receptor 1	Protein Coding	5.72	DISEASES inferred ¹⁴
7	SALL2	Spalt Like Transcription Factor 2	Protein Coding	5.68	DISEASES inferred ¹⁴
8	MRS2	Magnesium Transporter MRS2	Protein Coding	4.59	DISEASES inferred ¹⁴
9	HOXA9	Homeobox A9	Protein Coding	4.58	DISEASES inferred ¹⁴

Sources

Variations for Ivic Syndrome

ClinVar genetic disease variations for Ivic Syndrome:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SALL4	NM_020436.5(SALL4):c.2607del (p.Gln869fs)	DEL	Pathogenic	3330	rs1601166963	GRCh37: 20:50405535-50405535 GRCh38: 20:51788996-51788996
2	SALL4	NM_020436.5(SALL4):c.131-2del	DEL	Likely Pathogenic	624200	rs1568866374	GRCh37: 20:50408893-50408893 GRCh38: 20:51792354-51792354
3	SALL4	NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu)	SNV	Uncertain Significance	982635	rs2078023413	GRCh37: 20:50406600-50406600 GRCh38: 20:51790061-51790061
4	SALL4	NM_020436.5(SALL4):c.1056G>A (p.Ala352=)	SNV	Benign	261258	rs13038893	GRCh37: 20:50407966-50407966 GRCh38: 20:51791427-51791427
5	SALL4	NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)	SNV	Benign	261259	rs6126344	GRCh37: 20:50407502-50407502 GRCh38: 20:51790963-51790963
6	SALL4	NM_020436.5(SALL4):c.1860A>G (p.Thr620=)	SNV	Benign	261260	rs6021437	GRCh37: 20:50407162-50407162 GRCh38: 20:51790623-51790623
7	SALL4	NM_020436.5(SALL4):c.540T>C (p.Asn180=)	SNV	Benign	261264	rs6013281	GRCh37: 20:50408482-50408482 GRCh38: 20:51791943-51791943

Sources

Expression for Ivic Syndrome

Search GEO for disease gene expression data for Ivic Syndrome.

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Pathways for Ivic Syndrome

Pathways related to Ivic Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transcriptional regulation of pluripotent stem cells ⁶⁶ Show member pathways POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation ⁶⁶	10.19	SALL4 SALL1

Sources

GO Terms for Ivic Syndrome

Cellular components related to Ivic Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heterochromatin	GO:0000792	8.92	SALL4 SALL1

Biological processes related to Ivic Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein targeting to membrane	GO:0006612	9.62	RTP2 RTP1
2	detection of chemical stimulus involved in sensory perception of bitter taste	GO:0001580	9.56	RTP2 RTP1
3	ventricular septum development	GO:0003281	9.26	SALL4 SALL1
4	neural tube development	GO:0021915	9.16	SALL4 SALL2
5	protein insertion into membrane	GO:0051205	8.92	RTP2 RTP1

Molecular functions related to Ivic Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.85	SALL4 SALL3 SALL2 SALL1 HOXA9
2	RNA polymerase II cis-regulatory region sequence-specific DNA binding	GO:0000978	9.65	SALL4 SALL3 SALL2 SALL1 HOXA9
3	olfactory receptor binding	GO:0031849	8.92	RTP2 RTP1

Sources

Sources for Ivic Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

IVIC MCID: IVC001 MIFTS: 42	Ivic Syndrome (IVIC) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Ivic Syndrome (IVIC)

Aliases & Classifications for Ivic Syndrome

MalaCards integrated aliases for Ivic Syndrome:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Ivic Syndrome

Related Diseases for Ivic Syndrome

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

Graphical network of the top 20 diseases related to Ivic Syndrome:

Symptoms & Phenotypes for Ivic Syndrome

Human phenotypes related to Ivic Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Ivic Syndrome:

Drugs & Therapeutics for Ivic Syndrome

Cochrane evidence based reviews: oculootoradial syndrome

Genetic Tests for Ivic Syndrome

Genetic tests related to Ivic Syndrome:

Anatomical Context for Ivic Syndrome

Organs/tissues related to Ivic Syndrome:

Publications for Ivic Syndrome

Articles related to Ivic Syndrome:

Genes for Ivic Syndrome

Genes related to Ivic Syndrome (1 elite genes):

Variations for Ivic Syndrome

ClinVar genetic disease variations for Ivic Syndrome:

Expression for Ivic Syndrome

Pathways for Ivic Syndrome

Pathways related to Ivic Syndrome according to GeneCards Suite gene sharing:

GO Terms for Ivic Syndrome

Cellular components related to Ivic Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Ivic Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Ivic Syndrome according to GeneCards Suite gene sharing:

Sources for Ivic Syndrome