Irf6-Related Disorders disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IRF001 MIFTS: 12	Irf6-Related Disorders Categories: Rare diseases
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Aliases & Classifications for Irf6-Related Disorders

MalaCards integrated aliases for Irf6-Related Disorders:

Name: Irf6-Related Disorders ²⁴ ⁵²

Characteristics:

GeneReviews:

²⁴

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

Classifications:

MalaCards categories:
Global: Rare diseases

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Summaries for Irf6-Related Disorders

NIH Rare Diseases : ⁵² 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

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Related Diseases for Irf6-Related Disorders

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

(showing 11, show less)

#	Related Disease	Score
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:

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Symptoms & Phenotypes for Irf6-Related Disorders

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Drugs & Therapeutics for Irf6-Related Disorders

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

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Genetic Tests for Irf6-Related Disorders

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Anatomical Context for Irf6-Related Disorders

MalaCards organs/tissues related to Irf6-Related Disorders:

⁴⁰

Skin

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Publications for Irf6-Related Disorders

Articles related to Irf6-Related Disorders:

(showing 94, show less)

#	Title	Authors	PMID	Year
1	An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. ²⁴	Fakhouri WD...Schutte BC	24442519	2014
2	Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. ²⁴	Peyrard-Janvid M...Schutte BC	24360809	2014
3	Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. ²⁴	Leslie EJ...Murray JC	23949966	2013
4	Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. ²⁴	Mitchell K...Dixon MJ	22197488	2012
5	Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. ²⁴	Kalay E...Akarsu NA	22197489	2012
6	Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. ²⁴	Matsuzawa N...Yoshiura K	20803643	2010
7	Wound complications after cleft repair in children with Van der Woude syndrome. ²⁴	Jones JL...Dunnwald M	20856020	2010
8	A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. ²⁴	Beaty TH...Scott AF	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. ²⁴	Ferrero GB...Silengo MC	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. ²⁴	Desmyter L...Vikkula M	21045959	2010
11	Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. ²⁴	Yeetong P...Shotelersuk V	19842205	2009
12	Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. ²⁴	Houweling AC...Lachmeijer AM	19623037	2009
13	Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence. ²⁴	Richardson RJ...Dixon MJ	19439425	2009
14	Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? ²⁴	Jehee FS...Passos-Bueno MR	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. ²⁴	de Lima RL...Schutte BC	19282774	2009
16	Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population. ²⁴	Tang W...Tian W	19115793	2009
17	Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. ²⁴	Rahimov F...Murray JC	18836445	2008
18	A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. ²⁴	de Medeiros F...Jakobsen LP	18478600	2008
19	Identification of IRF6 gene variants in three families with Van der Woude syndrome. ²⁴	Tan EC...Yeow V	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. ²⁴	Birnbaum S...Mangold E	18247422	2008
21	Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. ²⁴	Osoegawa K...de Jong PJ	17873121	2008
22	A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. ²⁴	Brosch S...Pfister M	17549393	2007
23	Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation. ²⁴	Zechi-Ceide RM...Passos-Bueno MR	17551329	2007
24	Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). ²⁴	Ingraham CR...Schutte BC	17041601	2006
25	Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. ²⁴	Richardson RJ...Dixon MJ	17041603	2006
26	[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome]. ²⁴	Du XY...Zheng XH	16456794	2006
27	Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. ²⁴	Peyrard-Janvid M...Kere J	16160700	2005
28	Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome. ²⁴	Ye XQ...Bian Z	16211254	2005
29	[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province]. ²⁴	Wang XF...Kong XY	15995766	2005
30	Gene symbol: IRF6. Disease: Van der Woude syndrome. ²⁴	Mostowska A...Trzeciak WH	15988826	2005
31	IRF-7 is the master regulator of type-I interferon-dependent immune responses. ²⁴	Honda K...Taniguchi T	15800576	2005
32	Integral role of IRF-5 in the gene induction programme activated by Toll-like receptors. ²⁴	Takaoka A...Taniguchi T	15665823	2005
33	Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family. ²⁴	Item CB...Ewers R	15647839	2005
34	Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. ²⁴	Matsuzawa N...Niikawa N	15472655	2004
35	Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. ²⁴	Zucchero TM...Murray JC	15317890	2004
36	A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome. ²⁴	Gatta V...Stuppia L	15013698	2004
37	Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. ²⁴	Ghassibe M...Vikkula M	14757865	2004
38	Novel mutations in the IRF6 gene for Van der Woude syndrome. ²⁴	Wang X...Kong X	12920575	2003
39	Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome. ²⁴	Kim Y...Yoo HW	12964020	2003
40	Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. ²⁴	Jezewski PA...Murray JC	12807959	2003
41	Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. ²⁴	Dode C...Hardelin JP	12627230	2003
42	A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome. ²⁴	Shotelersuk V...Niikawa N	12632105	2003
43	Syngnathia and Van der Woude syndrome: a case report and literature review. ²⁴	Puvabanditsin S...Biswas A	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. ²⁴	Kayano S...Matsubara Y	14618417	2003
45	Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. ²⁴	Kondo S...Murray JC	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. ²⁴	Kantaputra PN...Tochareontanaphol C	11920830	2002
47	Signal transduction and the control of gene expression. ²⁴	Brivanlou AH...Darnell JE	11823631	2002
48	Structure and function of IRF-7. ²⁴	Zhang L...Pagano JS	11846980	2002
49	Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. ²⁴	Koillinen H...Kere J	11781685	2001
50	Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. ²⁴	Wong FK...Kere J	11303516	2001
51	IRF family of transcription factors as regulators of host defense. ²⁴	Taniguchi T...Tanaka N	11244049	2001
52	Distinct and essential roles of transcription factors IRF-3 and IRF-7 in response to viruses for IFN-alpha/beta gene induction. ²⁴	Sato M...Taniguchi T	11070172	2000
53	The IRF-3 transcription factor mediates Sendai virus-induced apoptosis. ²⁴	Heylbroeck C...Hiscott J	10729153	2000
54	MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. ²⁴	van den Boogaard MJ...van Amstel HK	10742093	2000
55	Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. ²⁴	Lees MM...Chitty L	10593995	1999
56	Lower lip pits and anorectal anomalies in Kabuki syndrome. ²⁴	Kokitsu-Nakata NM...Guion-Almeida ML	10482881	1999
57	Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41. ²⁴	Makita Y...Niikawa N	10482882	1999
58	Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome. ²⁴	Schutte BC...Murray JC	10323740	1999
59	Conserved transactivation domain shared by interferon regulatory factors and Smad morphogens. ²⁴	Eroshkin A...Mushegian A	10426188	1999
60	Maternal periconceptional alcohol consumption and risk for orofacial clefts. ²⁴	Shaw GM...Lammer EJ	10064665	1999
61	The role of interferon regulatory factors in the interferon system and cell growth control. ²⁴	Harada H...Tanaka N	9865486	1998
62	Virus-dependent phosphorylation of the IRF-3 transcription factor regulates nuclear translocation, transactivation potential, and proteasome-mediated degradation. ²⁴	Lin R...Hiscott J	9566918	1998
63	Structure of IRF-1 with bound DNA reveals determinants of interferon regulation. ²⁴	Escalante CR...Aggarwal AK	9422515	1998
64	Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myeloma. ²⁴	Iida S...Dalla-Favera R	9326949	1997
65	Clinical and epidemiologic studies of cleft lip and palate in the Philippines. ²⁴	Murray JC...Magee W	9003905	1997
66	Requirement for the transcription factor LSIRF/IRF4 for mature B and T lymphocyte function. ²⁴	Mittrucker HW...Mak TW	8999800	1997
67	Immunodeficiency and chronic myelogenous leukemia-like syndrome in mice with a targeted mutation of the ICSBP gene. ²⁴	Holtschke T...Horak I	8861914	1996
68	Essential and non-redundant roles of p48 (ISGF3 gamma) and IRF-1 in both type I and type II interferon responses, as revealed by gene targeting studies. ²⁴	Kimura T...Taniguchi T	9078371	1996
69	Variable expression of the popliteal pterygium syndrome in two 3-generation families. ²⁴	Soekarman D...Fryns JP	7628117	1995
70	Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. ²⁴	Burke LW...Jones MC	7727492	1995
71	Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome. ²⁴	Sander A...Murray J	8069301	1994
72	Targeted disruption of IRF-1 or IRF-2 results in abnormal type I IFN gene induction and aberrant lymphocyte development. ²⁴	Matsuyama T...Wakeham A	8402903	1993
73	Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. ²⁴	Franceschini P...Chiabotto P	8135293	1993
74	Anorectal anomalies associated with Kabuki make-up syndrome. ²⁴	Matsumura M...Kuroki Y	1469590	1992
75	Syndrome delineation involving orofacial clefting. ²⁴	Cohen MM...Bankier A	2004090	1991
76	Differential expression of TGF beta isoforms in murine palatogenesis. ²⁴	Fitzpatrick DR...Akhurst RJ	2401212	1990
77	Popliteal pterygium syndrome. ²⁴	Froster-Iskenius UG	2352260	1990
78	van der Woude syndrome in two families in China. ²⁴	Burdick AB...Gao NN	3429616	1987
79	The Van der Woude syndrome (dominantly inherited lip pits and clefts). ²⁴	Schinzel A...Klausler M	3746828	1986
80	Genetic epidemiology and control of genetic expression in van der Woude syndrome. ²⁴	Burdick AB	3491128	1986
81	Genetic analysis in families with van der Woude syndrome. ²⁴	Burdick AB...Puckett CL	4019732	1985
82	An incomplete form of the popliteal pterygium syndrome? ²⁴	Leck GD...Aird JC	6595011	1984
83	Correlations of hypodontia in children with isolated cleft palate. ²⁴	Ranta R...Rintala AE	6573982	1983
84	Correlations between microforms of the Van der Woude syndrome and cleft palate. ²⁴	Ranta R...Rintala AE	6573981	1983
85	Lower lip sinuses: I. Epidemiology, microforms and transverse sulci. ²⁴	Rintala AE...Ranta R	7459520	1981
86	The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks. ²⁴	Janku P...Edgerton MT	7395906	1980
87	The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. ²⁴	Shprintzen RJ...Sidoti EJ	6928118	1980
88	Phenotypic variation in the popliteal pterygium syndrome. ²⁴	Bixler D...Nance WE	4203060	1973
89	On sarcomas of the mandibular region. ²⁴	Rintala A...Soivio A	5531996	1970
90	The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations. ²⁴	Cervenka J...Anderson VE	6026934	1967
91	Congenital fistulas of the lower lip. A family case report. ²⁴	Soricelli DA...Alexander WA	5218157	1966
92	Fistula labii inferioris congenita and its association with cleft lip and palate. ²⁴	VAN DER WOUDE A	13158329	1954
93	Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. ⁶¹	Busche A...Gillessen-Kaesbach G	27286731	2016
94	IRF6-Related Disorders ⁶¹	Schutte BC...Leslie E	20301581	2003

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Genes for Irf6-Related Disorders

Genes related to Irf6-Related Disorders (0 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IRF6	Interferon Regulatory Factor 6	Protein Coding	6.79	GeneCards inferred via : Publications (show sections)

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Variations for Irf6-Related Disorders

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Expression for Irf6-Related Disorders

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

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Pathways for Irf6-Related Disorders

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GO Terms for Irf6-Related Disorders

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