MCID: CDL003
MIFTS: 55

Caudal Regression Syndrome malady

Neuronal, Nephrological, Fetal, Endocrine, Genetic categories

Summaries for Caudal Regression Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Caudal regression syndrome is a rare birth defect that impairs the development of the lower (caudal) half of the body. the condition may affect the lower back (including the spinal cord) and limbs, the genitourinary tract, and the gastrointestinal tract. the severity of this condition varies among affected individuals. the cause of caudal regression syndrome is not known, but it may be related to maternal diabetes, genetic factors, and blood blockages (vascular hypoperfusion). last updated: 9/25/2012

MalaCards: Caudal Regression Syndrome, also known as caudal regression sequence, is related to meningocele and spina bifida, and has symptoms including scoliosis, motor deficit/trouble and sphincter dysfunction. An important gene associated with Caudal Regression Syndrome is VANGL1 (VANGL planar cell polarity protein 1), and among its related pathways are Adipogenesis and Vitamin A and carotenoid metabolism. The compounds ttab and am 580 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, colon and pancreas, and related mouse phenotypes are embryogenesis and nervous system.

Genetics Home Reference:21 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:64 Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a congenital disorder in... more...

Description from OMIM:47 600145

Aliases & Classifications for Caudal Regression Syndrome

Sources:
61UMLS, 49Orphanet, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Neuronal, Nephrological, Endocrine


Characteristics (Orphanet epidemiological data):

49
sirenomelia:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
caudal regression sequence:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy
familial caudal dysgenesis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

caudal regression syndrome 43 21 47
caudal regression sequence 43 21 49
sacral agenesis syndrome 43 49 61
sacral regression syndrome 43 49
caudal dysgenesis syndrome 21 61
caudal dysplasia 43 49
sacral agenesis 43 21
sirenomelia 49 61
thyroid hormone plasma membrane transport defect 61
sacral defect with anterior meningocele 21
familial caudal dysgenesis 49
caudal dysplasia sequence 21
rudd klimek syndrome 61
rudd-klimek syndrome 49


External Ids:

SNOMED-CT via Orphanet58 253191000, 67254002, 91089008
UMLS via Orphanet62 C0037205
OMIM47 600145
MESH via Orphanet36 C538595
ICD10 via Orphanet26 Q87.2, Q76.0, Q87.8

Related Diseases for Caudal Regression Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Caudal Regression Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1meningocele30.5MNX1
2spina bifida30.1FUZ, CYP26A1, VANGL1
3imperforate anus30.0CYP26A1
4thyroid hormone plasma membrane transport defect10.6
5rudd klimek syndrome10.6
6sacral defect with anterior meningocele10.6
7n syndrome10.6
8patent foramen ovale10.4
9glanzmann's thrombasthenia10.4
10takayasu's arteritis10.4
11atrioventricular septal defect10.4
12congenital diaphragmatic hernia10.4
13atrial heart septal defect10.4
14urea cycle disorder10.4
15hereditary folate malabsorption10.4
16zap70-related severe combined immunodeficiency10.4
17acro-pectoro-renal field defect10.4
18ankle defects short stature10.4
19axial mesodermal dysplasia spectrum10.4
20branchial arch defects10.4
21cardioskeletal syndrome kuwaiti type10.4
22chylomicron retention disease10.4
23x-linked creatine deficiency10.4
24cystinosis, ocular nonnephropathic10.4
25hmg coa lyase deficiency10.4
26imerslund-grasbeck syndrome10.4
27defective apolipoprotein b-10010.4
28diaphragmatic hernia upper limb defects10.4
29peroxisome disorders10.4
30heart defect, tongue hamartoma and polysyndactyly10.4
31hermansky pudlak syndrome 210.4
32heterotaxy10.4
33red cell phospholipid defect with hemolysis10.4
34hyperthermia induced defects10.4
35lateral body wall defect10.4
36laterality defects dominant10.4
37overgrowth radial ray defect arthrogryposis10.4
38paraomphalocele10.4
39reductional transverse limb defects10.4
40renal agenesis meningomyelocele mullerian defect10.4
41trigonomacrocephaly tibial defect polydactyly10.4
42thyroid hormonogenesis defect i10.4
43combined oxidative phosphorylation deficiency 210.4
44combined oxidative phosphorylation deficiency 510.4
45combined oxidative phosphorylation deficiency 410.4
46combined oxidative phosphorylation deficiency 710.4
47combined oxidative phosphorylation deficiency 810.4
48combined oxidative phosphorylation deficiency 1010.4
49abdominal wall defect10.4
50critical congenital heart disease10.4

Graphical network of the top 20 diseases related to Caudal Regression Syndrome:



Diseases related to caudal regression syndrome

Clinical Features for Caudal Regression Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

600145

Clinical synopsis from OMIM:

600145

Symptoms:

49 (show all 44)
  • scoliosis
  • motor deficit/trouble
  • sphincter dysfunction
  • autosomal dominant inheritance
  • encopresis/fecal incontinence
  • chronic arterial hypertension
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • abnormal vertebral size/shape
  • restricted joint mobility/joint stiffness/ankylosis
  • renal failure
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • structural anomalies of the cardio-circulatory system
  • ectopic/horseshoe/fused kidneys
  • congenital cardiac anomaly/malformation/cardiopathy
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • talipes-varus/metatarsal varus
  • areflexia/hyporeflexia
  • stillbirth/neonatal death
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • agenesis/hypoplasia/aplasia of kidneys
  • cleft lip and palate
  • uterine/uterus/fallopian tubes anomalies
  • rib number anomalies
  • vertebral segmentation anomaly/hemivertebrae
  • vesicorenal/vesicoureteral reflux
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • spina bifida
  • bladder and ureter anomalies
  • arnold-chiari anomaly
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • structural anomalies of the genital system
  • oligoamnios
  • ambiguous genitalia
  • anus ectopia/anteposition/malposition
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • transposition of great vessels
  • single umbilical artery
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • maternal diabetes
  • sirenomelia/mermaid/lower limb fusion
  • sacrococcyx agenesis
  • polygenic/multifactorial inheritance

Drugs & Therapeutics for Caudal Regression Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Caudal Regression Syndrome

Drug clinical trials:

Search ClinicalTrials for Caudal Regression Syndrome

Search NIH Clinical Center for Caudal Regression Syndrome

Search CenterWatch for Caudal Regression Syndrome

Genetic Tests for Caudal Regression Syndrome

Anatomical Context for Caudal Regression Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Caudal Regression Syndrome:

33
Spinal cord, Colon, Pancreas, Thyroid

Animal Models for Caudal Regression Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Caudal Regression Syndrome

Sources:
51PubMed
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Articles related to Caudal Regression Syndrome:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Caudal regression syndrome. (23445152)
2013
2
A rare congenital malformation: caudal regression syndrome. (23504067)
2013
3
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. (22761628)
2012
4
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. (22526445)
2012
5
Juvenile glaucoma in a child with caudal regression syndrome. (20809909)
2011
6
Unusual coexistence of caudal duplication and caudal regression syndromes. (21238681)
2011
7
Teaching NeuroImages: caudal regression syndrome. (22170950)
2011
8
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. (22953253)
2010
9
Caudal regression syndrome in one of dizygotic twins. (21043567)
2010
10
Recognition of caudal regression syndrome. (19363325)
2009
11
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. (19995255)
2009
12
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. (19198864)
2009
13
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. (19536863)
2009
14
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. (18519639)
2008
15
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. (19099562)
2008
16
Caudal regression syndrome. (18536840)
2008
17
Pre-natal diagnosis of caudal regression syndrome. (17686358)
2007
18
Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome. (17968797)
2007
19
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. (16463413)
2006
20
HLXB9 homeobox gene and caudal regression syndrome. (16498628)
2006
21
Caudal regression syndrome--case report and review of literature. (15977017)
2005
22
Anesthesia in caudal regression syndrome. (15675942)
2005
23
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. (15791681)
2005
24
Implication of Wt1 in the pathogenesis of nephrogenic failure in a mouse model of retinoic acid-induced caudal regression syndrome. (15855632)
2005
25
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. (14694401)
2004
26
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. (15266776)
2004
27
Case 66: caudal regression syndrome in the fetus of a diabetic mother. (14695398)
2004
28
Chiari I malformation and caudal regression syndrome: a previously unreported association. (12868483)
2003
29
Infantile glaucoma and punctal atresia in a child with caudal regression syndrome. (12917621)
2003
30
Caudal regression syndrome versus sirenomelia: a case report. (11896526)
2002
31
Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. (11733381)
2001
32
Caudal regression syndrome. (11175945)
2001
33
Caudal Regression Syndrome and peno-scrotal transposition. (11426250)
2001
34
A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst. (10705931)
1999
35
Caudal regression syndrome: MR appearance. (9745947)
1998
36
Early detection of caudal regression syndrome: specific interest and findings in three cases. (9758271)
1998
37
Renal agenesis, ureteral ectopia into seminal vesicle, vas deferens agenesis and hemivertebra: an incomplete form of caudal regression syndrome? (9405995)
1997
38
MR of the caudal regression syndrome: embryologic implications. (8073969)
1994
39
Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management. (7936503)
1994
40
Gram-negative meningitis and chronic constipation: an unusual presentation of caudal regression syndrome. (8255844)
1993
41
Peno-scrotal transposition and the caudal regression syndrome. (1777496)
1991
42
Caudal regression syndrome and spondyloepiphyseal dysplasia in a 6-year-old child. A new syndrome? (2287549)
1990
43
Early detection of caudal regression syndrome with transvaginal scanning. (2406664)
1990
44
Caudal regression syndrome. (3235183)
1988
45
The caudal regression syndrome in infants of diabetic mothers. (3304122)
1987
46
Immature renal tissue in colonic wall of patient with caudal regression syndrome. (3013121)
1986
47
Sacral agenesis with associated anomalies (caudal regression syndrome): autopsy case report. (535268)
1979
48
Caudal regression syndrome: the urologic implications. (1195478)
1975
49
A diabetic embryopathy: the caudal regression syndrome. (5173752)
1971
50
Caudal dysplasia (caudal regression syndrome). (4247988)
1970

Genetic Variations for Caudal Regression Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Caudal Regression Syndrome:

63
id Symbol AA change Variation SNP ID
1VANGL1p.Val239IleVAR_035209

Expression for genes affiliated with Caudal Regression Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Caudal Regression Syndrome

Search GEO for disease gene expression data for Caudal Regression Syndrome.

Pathways for genes affiliated with Caudal Regression Syndrome

Sources:
38NCBI BioSystems Database
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Pathways related to Caudal Regression Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3RARA, CYP26A1
29.3RARA, CYP26A1
39.3RARA, CYP26A1

Compounds for genes affiliated with Caudal Regression Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Caudal Regression Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ttab459.6CYP26A1, RARA
2am 580459.5RARA, CYP26A1
3Etretinate119.5CYP26A1, RARA
4retinaldehyde459.5CYP26A1, RARA
5acitretin45 1110.4CYP26A1, RARA
6isotretinoin45 1110.3CYP26A1, RARA
7n-(4-hydroxyphenyl)retinamide459.2CYP26A1, RARA
81,25 dihydroxy vitamin d3459.1RARA, WT1
9ornithine45 249.8RARA, WT1
10retinoic acid45 249.1RARA, CYP26A1, MNX1, WT1

GO Terms for genes affiliated with Caudal Regression Syndrome

Sources:
16Gene Ontology
See all sources

Biological processes related to Caudal Regression Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid receptor signaling pathwayGO:0483849.3CYP26A1, RARA
2cellular response to retinoic acidGO:0713009.3RARA, CYP26A1
3diaphragm developmentGO:0605399.2WT1, MNX1
4germ cell developmentGO:0072819.0RARA, WT1
5ureteric bud developmentGO:0016578.8RARA, WT1

Molecular functions related to Caudal Regression Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:0019729.0RARA, CYP26A1
2sequence-specific DNA bindingGO:0435658.6RARA, MNX1, WT1

Products for genes affiliated with Caudal Regression Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Caudal Regression Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet