autosomal recessive hypohidrotic ectodermal dysplasia

常染色体劣性無汗性外胚葉形成不全

WordNet

1. (of genes) producing its characteristic phenotype only when its allele is identical
2. of or relating to an autosome; "autosomal gene"
3. of or relating to the ectoderm (同)ectodermic
4. abnormal development (of organs or cells) or an abnormal structure resulting from such growth
5. the outer germ layer that develops into skin and nervous tissue (同)exoderm, ectoblast

PrepTutorEJDIC

1. 後退する,退行の / (遺伝が)劣性の / 劣性遺伝形質

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• 1. 外胚葉異形成症ectodermal dysplasias [show details]
  …X-inactivation. Males and females are equally affected in the autosomal dominant and recessive forms of HED. Most hypohidrotic ectodermal dysplasia cases are X-linked (XLHED, MIM #305100). XLHED is caused …
• 2. 遺伝性皮膚疾患：概要the genodermatoses an overview [show details]
  … The classic ectodermal dysplasias, including hypohidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia with immune deficiency, and hidrotic ectodermal dysplasia; tumor protein… autosomal recessive disorder caused by mutations in any of eight genes…
• 3. 抗酸菌易感染性を示すメンデル型遺伝性疾患：特異的な遺伝子異常mendelian susceptibility to mycobacterial diseases specific defects [show details]
  …(IFNGR2, gene encoded on chromosome 21q22.1-q22.2) Autosomal recessive (AR) defects in IFNGR1 and IFNGR2 result in complete or partial deficiencies. Autosomal dominant (AD) inheritance resulting in partial …
• 4. 先天性掌蹠角化症hereditary palmoplantar keratodermas [show details]
  … (hidrocystomas) and an increased risk of skin tumors . Ectodermal dysplasia/skin fragility syndrome and skin fragility/woolly hair syndrome are rare autosomal recessive disorders caused by mutations in PKP1, encoding …
• 5. 腫瘍タンパク質p63関連疾患tumor protein p63 related disorders [show details]
  …representative examples of this group of ectodermal dysplasias. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3 syndrome) is an autosomal dominant disorder characterized by split …

English Journal

• Hypohidrotic ectodermal dysplasia: clinical and molecular review.

• Reyes-Reali J1, Mendoza-Ramos MI1, Garrido-Guerrero E2, Méndez-Catalá CF3, Méndez-Cruz AR1, Pozo-Molina G4.
• International journal of dermatology.Int J Dermatol.2018 Aug;57(8):965-972. doi: 10.1111/ijd.14048. Epub 2018 May 31.
• PMID 29855039
• AuthorsWright JT1, Grange DK2, Fete M3.
• Open/close author information list" class="jig-ncbitoggler" href="#
• PMID 20301291

• [Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].

• Callea M1, Cammarata-Scalisi F2, Willoughby CE3, Giglio SR4,5, Sani I4, Bargiacchi S4, Traficante G4, Bellacchio E6, Tadini G7,8, Yavuz I9, Galeotti A10, Clarich G11.
• Archivos argentinos de pediatria.Arch Argent Pediatr.2017 Feb 1;115(1):e34-e38. doi: 10.5546/aap.2017.e34.
• PMID 28097853

Japanese Journal

• Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

• Nat. Genet. 22, 366-369, 1999
• NAID 80011235836

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★リンクテーブル★

リンク元	「常染色体劣性無汗性外胚葉形成不全」
関連記事	「recessive」「autosomal recessive」「autosomal」「ectodermal」「hypohidrotic」

「常染色体劣性無汗性外胚葉形成不全」

　　[★]

英

autosomal recessive hypohidrotic ectodermal dysplasia

「recessive」

　　[★]

• adj.

• 劣性の、劣性遺伝性の

関

inferior、recessively、recessiveness

　 　

「autosomal recessive」

　　[★]

• 常染色体劣性遺伝の、常染色体劣性の

関

autosomal recessive inheritance

「autosomal」

　　[★]

• adj.

• 常染色体性の、常染色体の

関

autosomally、autosome

　

「ectodermal」

　　[★]

• 外胚葉性の、外胚葉の

関

ectoderm、ectomorphic

　

「hypohidrotic」

　　[★]

• 発汗低下の

関

hypohidrosis