KEGG DISEASE: Roberts-SC phocomelia syndrome

KEGG

DISEASE: Roberts-SC phocomelia syndrome

Entry

H00572                      Disease

Name

Roberts-SC phocomelia syndrome

Subgroup

Roberts syndrome
SC phocomelia syndrome

Description

Roberts syndrome is a autosomal recessive disorder featuring severe pre- and postnatal growth retardation, craniofacial anomalies, and tetraphocomelia that is caused by mesomelic shortening. SC phocomelia is milder with less marked limb reduction. Mutations in the ESCO2 gene have been detected in both disorders.

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
    H00572  Roberts-SC phocomelia syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06512  Chromosome cohesion and segregation
   H00572  Roberts-SC phocomelia syndrome

Pathway

hsa04110 Cell cycle

Network

nt06512 Chromosome cohesion and segregation

Gene

ESCO2 [HSA:157570] [KO:K11268]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Gordillo M, Vega H, Jabs EW

Title

Roberts Syndrome

Journal

GeneReviews (1993)

Reference

Authors

Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF

Title

The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

Journal

Am J Med Genet A 152A:472-8 (2010)
DOI:10.1002/ajmg.a.33261

Reference

Authors

Schule B, Oviedo A, Johnston K, Pai S, Francke U

Title

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Journal

Am J Hum Genet 77:1117-28 (2005)
DOI:10.1086/498695

LinkDB

» Japanese version

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