MCID: IRF001
MIFTS: 13

Irf6-Related Disorders

Categories: Rare diseases

Aliases & Classifications for Irf6-Related Disorders

MalaCards integrated aliases for Irf6-Related Disorders:

Name: Irf6-Related Disorders 24 53

Characteristics:

GeneReviews:

24
Penetrance Irf6-related disorders have high, but incomplete, penetrance....

Classifications:



Summaries for Irf6-Related Disorders

NIH Rare Diseases : 53 IRF6-related disorders include two different disorders caused by abnormalities in the interferon regulatory factor 6 (IRF6) gene. Van der Woude syndrome (VWS) is at the mild end of the spectrum and popliteal pterygium syndrome (PPS) is at the severe end of the spectrum. The symptoms of IRF6-related disorders vary greatly from case to case. People with VWS can have lip pits alone, cleft lip or cleft palate alone, or a combination of these anomalies. People with PPS have a thick web of skin (pterygium) on the backs of both legs (popliteal), extending from the hip (ischial tuberosity) to the heel (calcaneus) or in other locations, as well as other problems. A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in PPS. Supportive/symptomatic treatment may include surgery, pediatric dentistry, orthodontia, speech therapy, feeding and hearing evaluation, physical therapy, and orthopedic care.

MalaCards based summary : Irf6-Related Disorders is related to van der woude syndrome 1 and popliteal pterygium syndrome. An important gene associated with Irf6-Related Disorders is IRF6 (Interferon Regulatory Factor 6). Affiliated tissues include skin.

GeneReviews: NBK1407

Related Diseases for Irf6-Related Disorders

Diseases related to Irf6-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 van der woude syndrome 1 11.6
2 popliteal pterygium syndrome 11.6
3 cleft palate, isolated 10.1
4 syngnathia 10.1
5 otitis media 10.1
6 chromosome 2q35 duplication syndrome 10.1
7 cryptorchidism, unilateral or bilateral 10.1
8 cleft lip 10.1
9 cleft lip with or without cleft palate 10.1
10 isolated cleft lip 10.1
11 cleft lip/palate 10.1

Graphical network of the top 20 diseases related to Irf6-Related Disorders:



Diseases related to Irf6-Related Disorders

Symptoms & Phenotypes for Irf6-Related Disorders

Drugs & Therapeutics for Irf6-Related Disorders

Search Clinical Trials , NIH Clinical Center for Irf6-Related Disorders

Genetic Tests for Irf6-Related Disorders

Anatomical Context for Irf6-Related Disorders

MalaCards organs/tissues related to Irf6-Related Disorders:

41
Skin

Publications for Irf6-Related Disorders

Articles related to Irf6-Related Disorders:

(show top 50) (show all 94)
# Title Authors PMID Year
1
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. 4
24442519 2014
2
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 4
24360809 2014
3
Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. 4
23949966 2013
4
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. 4
22197488 2012
5
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. 4
22197489 2012
6
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. 4
20803643 2010
7
Wound complications after cleft repair in children with Van der Woude syndrome. 4
20856020 2010
8
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 4
20436469 2010
9
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 4
19536562 2010
10
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. 4
21045959 2010
11
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. 4
19842205 2009
12
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. 4
19623037 2009
13
Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence. 4
19439425 2009
14
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? 4
19449419 2009
15
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. 4
19282774 2009
16
Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population. 4
19115793 2009
17
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 4
18836445 2008
18
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. 4
18478600 2008
19
Identification of IRF6 gene variants in three families with Van der Woude syndrome. 4
18506368 2008
20
Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance. 4
18247422 2008
21
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. 4
17873121 2008
22
A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. 4
17549393 2007
23
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation. 4
17551329 2007
24
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. 4
17041603 2006
25
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). 4
17041601 2006
26
[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome]. 4
16456794 2006
27
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 4
16160700 2005
28
Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome. 4
16211254 2005
29
[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province]. 4
15995766 2005
30
Gene symbol: IRF6. Disease: Van der Woude syndrome. 4
15988826 2005
31
IRF-7 is the master regulator of type-I interferon-dependent immune responses. 4
15800576 2005
32
Integral role of IRF-5 in the gene induction programme activated by Toll-like receptors. 4
15665823 2005
33
Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family. 4
15647839 2005
34
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. 4
15472655 2004
35
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. 4
15317890 2004
36
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome. 4
15013698 2004
37
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. 4
14757865 2004
38
Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome. 4
12964020 2003
39
Novel mutations in the IRF6 gene for Van der Woude syndrome. 4
12920575 2003
40
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. 4
12807959 2003
41
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 4
12627230 2003
42
A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome. 4
12632105 2003
43
Syngnathia and Van der Woude syndrome: a case report and literature review. 4
12498614 2003
44
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. 4
14618417 2003
45
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 4
12219090 2002
46
Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family. 4
11920830 2002
47
Signal transduction and the control of gene expression. 4
11823631 2002
48
Structure and function of IRF-7. 4
11846980 2002
49
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. 4
11781685 2001
50
Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. 4
11303516 2001

Variations for Irf6-Related Disorders

Expression for Irf6-Related Disorders

Search GEO for disease gene expression data for Irf6-Related Disorders.

Pathways for Irf6-Related Disorders

GO Terms for Irf6-Related Disorders

Sources for Irf6-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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