KEGG DISEASE: RHYNS 症候群

KEGG

DISEASE: RHYNS 症候群

エントリ

H02884

名称

RHYNS 症候群

概要

RHYNS syndrome is a rare autosomal recessive disorder characterized by retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia. It has been reported that mutations in TMEM67 cause RHYNS syndrome. TMEM67 encodes the ciliary Frizzled-like receptor that regulates canonical Wnt/beta-catenin signaling pathway.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02884  RHYNS 症候群

病因遺伝子

TMEM67 [HSA:91147] [KO:K19348]

リンク

ICD-11:

MeSH:

OMIM:

文献

著者

Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA

タイトル

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

雑誌

Eur J Hum Genet 26:1266-1271 (2018)
DOI:10.1038/s41431-018-0183-6

文献

著者

Di Rocco M, Picco P, Arslanian A, Restagno G, Perfumo F, Buoncompagni A, Gattorno M, Borrone C

タイトル

Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?

雑誌

Am J Med Genet 73:1-4 (1997)
DOI:10.1002/(sici)1096-8628(19971128)73:1<1::aid-ajmg1>3.0.co;2-y

文献

著者

Abdelhamed ZA, Abdelmottaleb DI, El-Asrag ME, Natarajan S, Wheway G, Inglehearn CF, Toomes C, Johnson CA

タイトル

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/beta-catenin signalling in the developing cerebellum via Hoxb5.

雑誌

Sci Rep 9:5446 (2019)
DOI:10.1038/s41598-019-41940-5

LinkDB

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