KEGG DISEASE: Teebi hypertelorism syndrome

KEGG

DISEASE: Teebi hypertelorism syndrome

Entry

H02853                      Disease

Name

Teebi hypertelorism syndrome

Description

Teebi hypertelorism syndrome (TBHS) is a rare craniofacial disorder characterized by hypertelorism, prominent forehead, short nose with broad or depressed nasal root. Some cases of TBHS have been attributed to SPECC1L mutations. SPECC1L encodes a novel cross-linking protein that interacts between the microtubules and actin cytoskeleton systems as well as plays a role in cell migration and adhesion. Recently, TBHS due to mutations in CDH11 has been reported. It has been demonstrated that CHD11 is involved in focal adhesion and actin cytoskeleton organization.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02853  Teebi hypertelorism syndrome

Gene

(TBHS1) SPECC1L [HSA:23384] [KO:K23028]
(TBHS2) CDH11 [HSA:1009] [KO:K06803]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Zhang T, Wu Q, Zhu L, Wu D, Yang R, Qi M, Huang X

Title

A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.

Journal

Eur J Med Genet 63:103851 (2020)
DOI:10.1016/j.ejmg.2020.103851

Reference

Authors

Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sanchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ

Title

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Journal

Hum Genet 140:1061-1076 (2021)
DOI:10.1007/s00439-021-02274-3

LinkDB

» Japanese version

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