KEGG DISEASE: Tetra-amelia syndrome

KEGG

DISEASE: Tetra-amelia syndrome

Entry

H00636                      Disease

Name

Tetra-amelia syndrome

Description

Tetra-amelia syndrome (TETAMS) is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia. Recently, it has been reported that RSPO2 mutations cause tetra-amelia syndrome with lung aplasia.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    LB9B  Reduction defects of upper and lower limbs
     H00636  Tetra-amelia syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H00636  Tetra-amelia syndrome

Pathway

Wnt signaling pathway

Network

nt06505 WNT signaling

Gene

(TETAMS1) WNT3 [HSA:7473] [KO:K00312]
(TETAMS2) RSPO2 [HSA:340419] [KO:K23097]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Niemann S

Title

Tetra-Amelia Syndrome

Journal

GeneReviews (1993)

Reference

Authors

Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Muller U

Title

Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.

Journal

Am J Hum Genet 74:558-63 (2004)
DOI:10.1086/382196

Reference

Authors

Al-Qattan MM

Title

WNT pathways and upper limb anomalies.

Journal

J Hand Surg Eur Vol 36:9-22 (2011)
DOI:10.1177/1753193410380502

Reference

Authors

Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefevre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Basaran S, Yucel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B

Title

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Journal

Nature 557:564-569 (2018)
DOI:10.1038/s41586-018-0118-y

LinkDB

» Japanese version

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