KEGG DISEASE: KINSSHIP syndrome

DISEASE: KINSSHIP syndrome

Entry

H02743                      Disease

Name

KINSSHIP syndrome

Description

KINSSHIP syndrome is an autosomal dominant disorder characterized by horseshoe kidney, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability, and pulmonary involvement. It has been reported that variants in the degron of AFF3 cause this disease. AFF3 encodes a component of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development.

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
    H02743  KINSSHIP syndrome

Gene

AFF3 [HSA:3899] [KO:K15195]

Other DBs

ICD-11:

LD24.A

OMIM:

619297

Reference

PMID:31388108

Authors

Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T

Title

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Journal

J Hum Genet 64:1041-1044 (2019)
DOI:10.1038/s10038-019-0650-0

Reference

PMID:33961779

Authors

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hancarova M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkolbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla OL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalova D, Rhodes L, Sanders VR, Sedlacek Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tonne E, Tveten K, Vitiello G, Vlckova M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A

Title

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Journal

Am J Hum Genet 108:857-873 (2021)
DOI:10.1016/j.ajhg.2021.04.001

LinkDB

» Japanese version

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