Caudal Regression Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases
Aliases & Descriptions for Caudal Regression Syndrome:
Orphanet epidemiological data:51
caudal regression sequence:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal
caudal regression syndrome:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Nephrological diseases
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis
OMIM:49 Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes... (600145) more...
MalaCards based summary: Caudal Regression Syndrome, also known as sacral defect with anterior meningocele, is related to sacral agenesis with vertebral anomalies and sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome, and has symptoms including urogenital fistula, sirenomelia and maternal diabetes. An important gene associated with Caudal Regression Syndrome is VANGL1 (VANGL Planar Cell Polarity Protein 1), and among its related pathways are Adipogenesis and Signaling by Retinoic Acid. Affiliated tissues include spinal cord, kidney and lung, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.
NIH Rare Diseases:45 Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. it may affect the lower back (including the spinal cord), limbs, genitourinary tract, and the gastrointestinal tract. the specific features and severity of the disorder vary among affected people. caudal regression syndrome may have different causes in different people, and is likely caused by a combination of genetic and environmental factors. maternal diabetes is a major risk factor for the disorder. most cases are sporadic or are associated with maternal diabetes. management is supportive and may include surgery. the prognosis is poor; some newborns with severe cases do not survive the neonatal period. those that survive infancy usually have normal cognitive function. last updated: 9/9/2015
UniProtKB/Swiss-Prot:67 Sacral defect with anterior meningocele: Form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant.
Genetics Home Reference:23 Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
Wikipedia:68 Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a congenital disorder in... more...
Symptoms by clinical synopsis from OMIM:600145
Clinical features from OMIM:600145
Symptoms:51 (show all 29)
HPO human phenotypes related to Caudal Regression Syndrome:(show all 45)
UMLS symptoms related to Caudal Regression Syndrome:headache, back pain
MalaCards organs/tissues related to Caudal Regression Syndrome:33
Spinal cord, Kidney, Lung, Testes, Bone, Skeletal muscle, Breast
MGI Mouse Phenotypes related to Caudal Regression Syndrome:38 (show all 12)
Articles related to Caudal Regression Syndrome:(show top 50) (show all 85)
Search GEO for disease gene expression data for Caudal Regression Syndrome.
Pathways related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet