MCID: CDL003
MIFTS: 62

Caudal Regression Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases, Endocrine diseases categories

Summaries for Caudal Regression Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 imperforate anus, and has symptoms including structural anomalies of the genital system, oligoamnios and ambiguous genitalia. 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, thyroid and kidney, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Wikipedia:66 Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a congenital disorder in... more...

Description from OMIM:48 600145

Aliases & Classifications for Caudal Regression Syndrome

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 44 22 48
caudal regression sequence 44 22 50
sacral agenesis syndrome 44 50 63
sacral regression syndrome 44 50
caudal dysgenesis syndrome 22 63
caudal dysplasia 44 50
sacral agenesis 44 22
sirenomelia 50 63
thyroid hormone plasma membrane transport defect 63
sacral defect with anterior meningocele 22
familial caudal dysgenesis 50
caudal dysplasia sequence 22
rudd klimek syndrome 63
rudd-klimek syndrome 50


External Ids:

SNOMED-CT via Orphanet60 253191000, 67254002, 91089008 205425003, 8301004, more
UMLS via Orphanet64 C0037205, C0344490, C0300948
OMIM48 600145
MESH via Orphanet37 C538595
ICD10 via Orphanet27 Q87.2, Q76.0, Q87.8

Related Diseases for Caudal Regression Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Caudal Regression Syndrome:



Diseases related to caudal regression syndrome

Symptoms for Caudal Regression Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

600145

Clinical features from OMIM:

600145

Symptoms:

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

Drugs & Therapeutics for Caudal Regression Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Caudal Regression Syndrome

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Anatomical Context for Caudal Regression Syndrome

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34MalaCards
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MalaCards organs/tissues related to Caudal Regression Syndrome:

34
Spinal cord, Thyroid, Kidney, Testes, Lung, Uterus, Colon, Pancreas, Bone

Animal Models for Caudal Regression Syndrome or affiliated genes

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38MGI
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Publications for Caudal Regression Syndrome

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53PubMed
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Articles related to Caudal Regression Syndrome:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. (24083063)
2013
2
Conjoined legs: Sirenomelia or caudal regression syndrome? (23960288)
2013
3
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. (23652529)
2013
4
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. (22761628)
2012
5
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. (22526445)
2012
6
Juvenile glaucoma in a child with caudal regression syndrome. (20809909)
2011
7
Unusual coexistence of caudal duplication and caudal regression syndromes. (21238681)
2011
8
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. (21509087)
2010
9
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. (22953253)
2010
10
Caudal regression syndrome in one of dizygotic twins. (21043567)
2010
11
Recognition of caudal regression syndrome. (19363325)
2009
12
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. (19995255)
2009
13
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. (19198864)
2009
14
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. (18358295)
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
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. (16463413)
2006
19
HLXB9 homeobox gene and caudal regression syndrome. (16498628)
2006
20
Caudal regression syndrome--case report and review of literature. (15977017)
2005
21
Anesthesia in caudal regression syndrome. (15675942)
2005
22
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141)
2005
23
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. (15791681)
2005
24
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. (14694401)
2004
25
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. (15266776)
2004
26
Case 66: caudal regression syndrome in the fetus of a diabetic mother. (14695398)
2004
27
Chiari I malformation and caudal regression syndrome: a previously unreported association. (12868483)
2003
28
Infantile glaucoma and punctal atresia in a child with caudal regression syndrome. (12917621)
2003
29
Caudal regression syndrome: an online multicentre survey. Urological long-term results. (12585250)
2002
30
Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. (11733381)
2001
31
Caudal regression syndrome. (11175945)
2001
32
Prenatal diagnosis of Caudal Regression Syndrome : a case report. (11782287)
2001
33
A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst. (10705931)
1999
34
Caudal regression syndrome detected in a fetus with increased nuchal translucency. (10422916)
1999
35
Retinoic acid-induced caudal regression syndrome in the mouse fetus. (9535508)
1998
36
Caudal regression syndrome: MR appearance. (9745947)
1998
37
Early detection of caudal regression syndrome: specific interest and findings in three cases. (9758271)
1998
38
MR of the caudal regression syndrome: embryologic implications. (8073969)
1994
39
Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence). (8126785)
1994
40
Gram-negative meningitis and chronic constipation: an unusual presentation of caudal regression syndrome. (8255844)
1993
41
Spinal cord abnormalities in caudal regression syndrome. (2028749)
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
Partial transposition of the penis and scrotum with anterior urethral diverticulum in a child born with the caudal regression syndrome. (2627212)
1989
45
Anatomical evaluation of the caudal regression syndrome (lumbosacral agenesis) with magnetic resonance imaging. (2771018)
1989
46
Topics in perinatal ultrasonography. Caudal regression syndrome. (3332895)
1987
47
Unusual split of the spinal cord in a caudal regression syndrome with myelocystocele. (7168484)
1982
48
Caudal regression syndrome: the urologic implications. (1195478)
1975
49
A diabetic embryopathy: the caudal regression syndrome. (5173752)
1971
50
Caudal dysplasia syndrome (caudal regression syndrome). (5697974)
1968

Variations for Caudal Regression Syndrome

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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Caudal Regression Syndrome:

65
id Symbol AA change Variation ID SNP ID
1VANGL1p.Val239IleVAR_035209

Expression for genes affiliated with Caudal Regression Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Caudal Regression Syndrome

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Pathways for genes affiliated with Caudal Regression Syndrome

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG
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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
2
Show member pathways
9.3CYP26A1, RARA
39.3CYP26A1, RARA
49.1RARA, WT1
59.1WT1, RARA

Compounds for genes affiliated with Caudal Regression Syndrome

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46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Caudal Regression Syndrome according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1ttab469.6RARA, CYP26A1
2am 580469.6RARA, CYP26A1
3retinaldehyde469.6RARA, CYP26A1
4acitretin46 1210.6CYP26A1, RARA
5isotretinoin46 1210.5RARA, CYP26A1
6n-(4-hydroxyphenyl)retinamide469.5CYP26A1, RARA
7vitamin a46 25 1211.3RARA, CYP26A1
81,25 dihydroxy vitamin d3469.2WT1, RARA
9ornithine46 2510.2WT1, RARA
10imatinib46 52 1211.1RARA, WT1
11arsenite46 2510.0WT1, RARA
12calcitriol46 62 25 1211.8WT1, RARA
13retinoic acid46 259.2WT1, RARA, MNX1, CYP26A1

GO Terms for genes affiliated with Caudal Regression Syndrome

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17Gene Ontology
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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:0605399.2MNX1, WT1
4germ cell developmentGO:0072819.0WT1, RARA
5ureteric bud developmentGO:0016578.8WT1, RARA

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:0019729.2RARA, CYP26A1
2sequence-specific DNA binding transcription factor activityGO:0037008.6WT1, RARA, MNX1
3sequence-specific DNA bindingGO:0435658.3WT1, RARA, MNX1

Products for genes affiliated with Caudal Regression Syndrome

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  • Lysates
  • Antibodies

Sources for Caudal Regression Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet