KEGG DISEASE: RHYNS syndrome

KEGG

DISEASE: RHYNS syndrome

Entry

H02884                      Disease

Name

RHYNS syndrome

Description

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.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02884  RHYNS syndrome

Gene

TMEM67 [HSA:91147] [KO:K19348]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

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

Title

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Journal

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

Reference

Authors

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

Title

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

Journal

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

Reference

Authors

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

Title

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

Journal

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

LinkDB

» Japanese version

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