Lethal Congenital Contractural Syndrome 2 malady
Categories: Genetic diseases, Rare diseases, Fetal diseases
Aliases & Descriptions for Lethal Congenital Contractural Syndrome 2:
lethal congenital contractural syndrome 2:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:67 Lethal congenital contracture syndrome 2: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology.
MalaCards based summary: Lethal Congenital Contractural Syndrome 2, also known as lethal congenital contracture syndrome 2, is related to congenital contractures and lethal congenital contracture syndrome, and has symptoms including hydronephrosis, micrognathia and edema. An important gene associated with Lethal Congenital Contractural Syndrome 2 is ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3). Affiliated tissues include skeletal muscle and spinal cord.
Description from OMIM:49 607598
Diseases in the Lethal Congenital Contractural Syndrome 2 family:
Diseases related to Lethal Congenital Contractural Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to Lethal Congenital Contractural Syndrome 2:(show all 13)
MalaCards organs/tissues related to Lethal Congenital Contractural Syndrome 2:33
Skeletal muscle, Spinal cord
Search GEO for disease gene expression data for Lethal Congenital Contractural Syndrome 2.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet