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 lethal congenital contracture syndrome 1 and lethal congenital contractural syndrome 3, 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