[…] polyendocrinopathy-candidiasis-ectodermal dystrophy EnglishOMIM 240300 L0085623no S7548879 Y AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY EnglishMedical
[wap.doctor.am]
Dystrophy [Nom commun] Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy [Nom commun] Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy [Nom commun
[idref.fr]
"Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation".
[en.wikipedia.org]
Clouston, whose eponym is attached to a type of hidrotic ectodermal dystrophy, and a brief account of the mapping of the gene and its identification as the connexin gene,
[ncbi.nlm.nih.gov]
Clouston HR (1929) A hereditary ectodermal dystrophy. Can Med Assoc J 21:18–31 PubMed Google Scholar 4.
[link.springer.com]
Cote GB, Adamopoulos D, Pantelakis S (1982) Arthrogryphosis and ectodermal dysplasia. Hum Hered 32:71–72 PubMed CrossRef Google Scholar 5.
[link.springer.com]
Studies on autoimmune polyendocrinopathy candidiasis ectodermal dystrophy have revealed autoimmunity to Th17 cytokines and cells as the basis for CMC.
[ncbi.nlm.nih.gov]
A proportion of these patients show an associated endocrinopathy as part of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome.
[ncbi.nlm.nih.gov]
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.
[emedicine.com]
CONTEXT: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is known as a rare hereditary disease with classic triad of mucocutaneous candidiasis, hypoparathyroidism
[ncbi.nlm.nih.gov]
[…] mucocutaneous candidiasis, and ectodermal dystrophies and other organ-specific autoimmune diseases.
[ncbi.nlm.nih.gov]
PURPOSE OF REVIEW: To review the clinical and molecular features of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy and discuss recent advances in the function
[ncbi.nlm.nih.gov]
Kisand K, Peterson P (2011) Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome.
[link.springer.com]
dystrophy syndrome. ( 17289071 ) Meyer T....Maisch B. 2007 6 Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. ( 14764760
[malacards.org]
[…] active pulmonary disease and successful treatment with rituximab Popler, J; Alimohammadi, M; Kampe, O Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy
[deepdyve.com]
Dystrophy [T840967] Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune [T840969] AIRE Deficiency [T844116] APS Type 1 [T844117] Preferred Concept Mesh Scope
[medvik.cz]
Dystrophy, Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy.
[xpertdox.com]
Autoimmune polyendoctinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006;91(8):2843-50. Li Y, Song YH, Rais N, et al.
[rarediseases.org]
(NGS panel for 14 genes) Ectodermal dysplasia, ectrodactyly and macular dystrophy (sequence analysis of CDH3 gene) Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
[cgcgenetics.com]
[…] dysplasia, ectrodactyly and macular dystrophy (sequence analysis of CDH3 gene) Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis
[cgcgenetics.com]
Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS).
[genecards.org]
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
[structure.bmc.lu.se]
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl.
[degruyter.com]
Pathogenic and Protective Autoantibodies in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED). Antibodies 2017, 6, 1.
[mdpi.com]
Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth
[utexas.influuent.utsystem.edu]
Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/ pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth
[oadoi.org]
Other syndromes with hair abnormalities may also mimic uncombable hair syndrome clinically and these include, Rapp-Hodgkin ectodermal dysplasia; loose anagen hair syndrome
[utexas.influuent.utsystem.edu]
A hereditary ectodermal dystrophy. Can Med Assoc J 1929;21:18-31.
[ijdvl.com]
We investigated two unrelated Kuwaiti families in which a total of six individuals have had lifelong ectodermal defects.
[kclpure.kcl.ac.uk]
Ectodermal dysplasias (ED) are a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures such as hair, teeth, nail and sweat glands
[e-ijd.org]
[…] dysplasia with ectrodactyly and macular dystrophy syndrome Ectodermal dysplasia with hair-nail defect Ectodermal dysplasia with hair-tooth defects Ectodermal dysplasia with
[healthprovidersdata.com]
A hereditary ectodermal dystrophy. Can Med Assoc J. 1929. 21:18-31. Pierard GE, Van Neste D, Letot B. Hidrotic ectodermal dysplasia. Dermatologica. 1979. 158(3):168-74.
[emedicine.medscape.com]
[…] dysplasia Ectodermal dysplasia and sensorineural deafness syndrome Ectodermal dysplasia trichoodontoonychial type Ectodermal dysplasia with blindness syndrome Ectodermal
[healthprovidersdata.com]
[…] candidiasis, and an ectodermal dystrophy complex including hypoplasia of the dental enamel.
[hypopara.org]
Autoimmune polyendocrinopathy -- candidosis -- ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin.Genet. 27:535-542. 21. Perniola, R., G.
[hypopara.org]
Also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Presents in childhood.
[patient.info]
[PubMed: 6302256] Senecky Y, Halpern GJ, Inbar D, et al: Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings.
[accesspediatrics.mhmedical.com]
Other condition to be considered ☞EEM Syndrome (EEM-Albrectsen Syndrome): An acronym that stands for Ectodermal dysplasia; Ectrodactyly, and Macular dystrophy Syndrome.
[accesspediatrics.mhmedical.com]
[PubMed: 3425621] Ohdo S, Hirayama K, Terawaki T: Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: The EEM syndrome. J Med Genet 20:52, 1983.
[accesspediatrics.mhmedical.com]
Scholar Rautemaa R, Hietanen J, Niissalo S, et al (2007) Oral and oesophageal squamous cell carcinoma—a complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal
[link.springer.com]
Other epidemiological evidence of a link between Candida infection and cancer is what is observed in patients with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy
[bspe.revuesonline.com]
Dystrophy [Nom commun] Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy [Nom commun] Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy [Nom commun
[idref.fr]
] Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune [Nom commun] Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy [Nom commun] Autoimmune Polyglandular
[idref.fr]
Autoimmune [Nom commun] Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune [Nom commun] Polyglandular Autoimmune Syndrome, Type 1 [Nom commun] Polyglandular
[idref.fr]
Abstract Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease defined by two of the following conditions
[jomos.org]
Correspondance : emmanuelmr@hotmail.fr Reçu : 15 Novembre 2015 Accepté : 30 Novembre 2015 Résumé Introduction : Le syndrome APECED (Autoimmune Polyendocrinopathy Candidiasis Ectodermal
[jomos.org]
Dystrophy) est une maladie autosomique récessive caractérisée par l’association d’une atteinte endocrinienne auto-immune, d’une candidose cutanéo-muqueuse et d’une atteinte
[jomos.org]
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective. J Endocrinol Invest. 2013 Nov;36(10):903-12.
[scielo.org.co]
AD-CMC can be complicated by various immune disorders including autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
[ncbi.nlm.nih.gov]
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.
[emedicine.medscape.com]
Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Br J Dermatol. 2006 Jun. 154(6):1088-93. [Medline].
[emedicine.medscape.com]
dystrophy (APECED, APS-I).
[link.springer.com]
Scholar Rautemaa R, Hietanen J, Niissalo S, et al (2007) Oral and oesophageal squamous cell carcinoma—a complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal
[link.springer.com]
N Engl J Med 322:1829–1836 PubMed CAS Google Scholar Perheentupa J (2006) Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
[link.springer.com]
dystrophy (APECED) in a series of 68 patients.
[link.springer.com]
dystrophy) est une maladie rare, de transmission autosomique récessive, liée aux mutations du gène AIRE.
[link.springer.com]
dystrophy Clouston, Clouston Major forms of hereditary ectodermal dysplasia Clouston, Clouston A family with inherited ectodermal dystrophy Wilkey, Wilkey; Stevenson, Stevenson
[deepdyve.com]
Hidrotic ectodermal dysplasia—Clouston's family revisited Williams, Williams; Fraser, Fraser Hidrotic ectodermal dysplasia Rajagopalan, Rajagopalan; Hai Tay, Hai Tay Clouston
[deepdyve.com]
Lambert; Planche, Planche; Chapuis, Chapuis Palmoplantar keratoderma with sclerodactyly (Huriez syndrome) Patrizi, Patrizi; Lernia, Lernia; Patrone, Patrone Hereditary ectodermal
[deepdyve.com]
dystrophy autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy Autoimmune polyendocrinopathy-candidiasis-ectodermal
[ghr.nlm.nih.gov]
[…] dysplasia, ectrodactyly, and macular dystrophy, 225280 CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 CDHR1 Cone-rod dystrophy 15 613660 CDHR1 Retinitis
[qgenomics.com]
dystrophy APS1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy APSS, see Acral peeling skin syndrome AR deficiency, see Androgen insensitivity syndrome
[ghr.nlm.nih.gov]
dystrophy (APECED).
[slideplayer.com]
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.
[emedicine.medscape.com]
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. J. Clin. Immunol. 2015; 35(5):463-78. PMID: 26141571 Oftedal, BE, et al.
[invitae.com]
[…] dysplasia characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy and multiple periocular and eyelid apocrine hidrocystomas.
[jmscr.igmpublication.org]
Schöpf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by hypodontia, hypotrichosis, nail dystrophy, palmoplantar keratoderma, and periocular
[scienceopen.com]
Ravinder Singh, Dilbag Singh, Shikha Verma DOI: https://dx.doi.org/10.18535/jmscr/v8i6.57 Abstract References Abstract Schopf–Schulz–Passarge syndrome (SSPS) is a rare type of ectodermal
[jmscr.igmpublication.org]
[…] dysplasia Berlin type * Ectodermal dysplasia blindness * Ectodermal dysplasia ectrodactyly macular dystrophy * Ectodermal dysplasia hypohidrotic autosomal dominant * Ectodermal
[en.academic.ru]
[…] dysplasia Berlin type Ectodermal dysplasia blindness Ectodermal dysplasia ectrodactyly macular dystrophy Ectodermal dysplasia hypohidrotic autosomal dominant Ectodermal dysplasia
[ssf.f15ijp.com]
Ech [ edit ] Echovirus infection Ect [ edit ] Ecto [ edit ] Ectod [ edit ] Ectode [ edit ] Ectodermal dysplasia absent dermatoglyphics Ectodermal dysplasia adrenal cyst Ectodermal
[en.wikipedia.org]
Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth
[pubmed.ncbi.nlm.nih.gov]
Other syndromes with hair abnormalities may also mimic uncombable hair syndrome clinically and these include, Rapp-Hodgkin ectodermal dysplasia; loose anagen hair syndrome
[pubmed.ncbi.nlm.nih.gov]
Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth
[pubmed.ncbi.nlm.nih.gov]
Other syndromes with hair abnormalities may also mimic uncombable hair syndrome clinically and these include, Rapp-Hodgkin ectodermal dysplasia; loose anagen hair syndrome
[pubmed.ncbi.nlm.nih.gov]
Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations
[malacards.org]
dystrophy ; Onycholysis ; Pili torti ; Sparse body hair ; Temporal hypotrichosis Associated Genes KRT85 (Withdrawn symbols: Hb-5, KRTHB5 ) Mouse Orthologs - Source OMIM:602032
[mousephenotype.org]
We herein report a case of hypotrichosis with trichorrhexis nodosa and twenty nail dystrophy- a hypohidrotic ectodermal dysplasia variant.
[ijpd.in]
ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations.
[malacards.org]
ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality.
[malacards.org]
A hereditary ectodermal dystrophy. Can Med Assoc J 1929;21:18-31.
[ijdvl.com]
Autoimmune polyendoctinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006;91(8):2843-50. Li Y, Song YH, Rais N, et al.
[rarediseases.org]
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990; 28: 1829–1836. 4.
[medicaljournals.se]
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.
[emedicine.medscape.com]
