MCID: CDL003
MIFTS: 57

Caudal Regression Syndrome malady

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

Summaries for Caudal Regression Syndrome

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OMIM:45 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 meningocele and imperforate anus, and has symptoms including bowel incontinence, abnormality of pelvic girdle bone morphology and amyotrophy. An important gene associated with Caudal Regression Syndrome is VANGL1 (VANGL planar cell polarity protein 1), and among its related pathways are Vitamin A and carotenoid metabolism and Nuclear receptors in lipid metabolism and toxicity. The compounds ttab and am 580 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, kidney and lung, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

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.

NIH Rare Diseases:41 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

Wikipedia:63 Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a congenital disorder in... more...

Aliases & Classifications for Caudal Regression Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Caudal Regression Syndrome, Aliases & Descriptions:

Name: Caudal Regression Syndrome 45 10 41 21
Sacral Defect with Anterior Meningocele 45 41 21 22
Caudal Dysgenesis Syndrome 41 20 21 60
Caudal Regression Sequence 41 21 47
Sacral Agenesis Syndrome 41 47 60
Sacral Regression Syndrome 41 47
Caudal Dysplasia 41 47
 
Sacral Agenesis 41 21
Sacral Defect and Anterior Sacral Meningocele 60
Familial Caudal Dysgenesis 41
Caudal Dysplasia Sequence 21
Rudd-Klimek Syndrome 41
Rudd Klimek Syndrome 60
Sdam 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
caudal regression sequence:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 600145
Orphanet47 3027
ICD10 via Orphanet26 Q76.0
UMLS via Orphanet61 C0300948, C0344490

Related Diseases for Caudal Regression Syndrome

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1meningocele31.2MNX1
2imperforate anus30.6CYP26A1
3sirenomelia10.5
4holoprosencephaly10.4
5rudd klimek syndrome10.4
6alobar holoprosencephaly10.3
7sacral agenesis with vertebral anomalies10.3
8sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome10.3
9currarino triad10.2
10williams-beuren syndrome10.2
11pierre robin syndrome10.2
12lipoma10.2
13urethritis10.2
14juvenile glaucoma10.2
15urethral diverticulum10.2
16spinal cord lipoma10.2
17biliary atresia10.2
18arachnoiditis10.2
19cervicitis10.2
20constipation10.2
21meningitis10.2
22agenesis of the corpus callosum10.2
23annular pancreas10.2
24arachnoid cysts10.2
25diabetic embryopathy10.2
26myelocystocele10.2
27lobar holoprosencephaly10.2
28neural tube defects10.1VANGL1, FUZ
29alagille syndrome10.1
30syringomyelia10.1
31pseudohermaphroditism10.1
32currarino syndrome10.1
33polydactyly10.1
34neurogenic bladder10.1
35hypopituitarism10.1
36anorectal atresia10.1
37myelomeningocele10.1
38ring chromosome 710.1
39split cord malformation10.1
40spranger schinzel myers syndrome10.1
41triphalangeal thumb10.1
42neurenteric cyst10.1
43keratomalacia10.0CYP26A1, RARA
44chromosomal triplication10.0RARA, MNX1
45leukemia, acute promyelocytic10.0RARA, CYP26A1
46embryonal cancer9.9RARA, CYP26A1
47hematologic cancer9.9RARA, WT1
48myelodysplastic syndrome9.8WT1, RARA
49leukemia, chronic myeloid9.8RARA, WT1
50proteinuria9.8WT1, RARA

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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Symptoms by clinical synopsis from OMIM:

600145

Clinical features from OMIM:

600145

Symptoms:

 47 (show all 29)
  • vertebral segmentation anomaly/hemivertebrae
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • sacrococcyx agenesis
  • encopresis/fecal incontinence
  • motor deficit/trouble
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • polygenic/multifactorial inheritance
  • maternal diabetes
  • scoliosis
  • talipes-varus/metatarsal varus
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • congenital cardiac anomaly/malformation/cardiopathy
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • sphincter dysfunction
  • areflexia/hyporeflexia
  • restricted joint mobility/joint stiffness/ankylosis
  • cleft lip and palate
  • rib number anomalies
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • chronic arterial hypertension
  • renal failure
  • ambiguous genitalia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • arnold-chiari anomaly
  • stillbirth/neonatal death

HPO human phenotypes related to Caudal Regression Syndrome:

(show all 33)
id Description Frequency HPO Source Accession
1 bowel incontinence hallmark (90%) HP:0002607
2 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
3 amyotrophy hallmark (90%) HP:0003202
4 vertebral segmentation defect hallmark (90%) HP:0003422
5 aplasia/hypoplasia of the sacrum hallmark (90%) HP:0008517
6 maternal diabetes hallmark (90%) HP:0009800
7 vesicoureteral reflux typical (50%) HP:0000076
8 reduced tendon reflexes typical (50%) HP:0001315
9 limitation of joint mobility typical (50%) HP:0001376
10 talipes typical (50%) HP:0001883
11 malformation of the heart and great vessels typical (50%) HP:0002564
12 scoliosis typical (50%) HP:0002650
13 renal hypoplasia/aplasia typical (50%) HP:0008678
14 abnormal localization of kidney typical (50%) HP:0100542
15 urogenital fistula typical (50%) HP:0100589
16 cryptorchidism occasional (7.5%) HP:0000028
17 ambiguous genitalia occasional (7.5%) HP:0000062
18 renal insufficiency occasional (7.5%) HP:0000083
19 oral cleft occasional (7.5%) HP:0000202
20 abnormality of the ribs occasional (7.5%) HP:0000772
21 hypertension occasional (7.5%) HP:0000822
22 holoprosencephaly occasional (7.5%) HP:0001360
23 arnold-chiari malformation occasional (7.5%) HP:0002308
24 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
25 autosomal dominant inheritance HP:0000006
26 neurogenic bladder HP:0000011
27 meningitis HP:0001287
28 constipation HP:0002019
29 headache HP:0002315
30 back pain HP:0003418
31 rectal abscess HP:0005224
32 anterior sacral meningocele HP:0007293
33 sacral lipoma HP:0012033

Drugs & Therapeutics for Caudal Regression Syndrome

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Drug clinical trials:

Search ClinicalTrials for Caudal Regression Syndrome

Search NIH Clinical Center for Caudal Regression Syndrome

Genetic Tests for Caudal Regression Syndrome

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Genetic tests related to Caudal Regression Syndrome:

id Genetic test Affiliating Genes
1 Caudal Dysgenesis Syndrome20 VANGL1
2 Sacral Defect with Anterior Meningocele22

Anatomical Context for Caudal Regression Syndrome

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MalaCards organs/tissues related to Caudal Regression Syndrome:

31
Spinal cord, Kidney, Lung, Testes, Bone, Heart, Colon, Pancreas

Animal Models for Caudal Regression Syndrome or affiliated genes

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Publications for Caudal Regression Syndrome

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Articles related to Caudal Regression Syndrome:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
A case of caudal regression syndrome: walking or sitting? (25400859)
2014
2
Sirenomelia and severe caudal regression syndrome. (25551110)
2014
3
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. (24083063)
2013
4
Conjoined legs: Sirenomelia or caudal regression syndrome? (23960288)
2013
5
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. (23652529)
2013
6
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. (22761628)
2012
7
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. (22526445)
2012
8
Juvenile glaucoma in a child with caudal regression syndrome. (20809909)
2011
9
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. (21509087)
2010
10
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. (22953253)
2010
11
Caudal regression syndrome in one of dizygotic twins. (21043567)
2010
12
Recognition of caudal regression syndrome. (19363325)
2009
13
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. (19995255)
2009
14
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. (19198864)
2009
15
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. (18358295)
2008
16
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. (19099562)
2008
17
Caudal regression syndrome. (18536840)
2008
18
Pre-natal diagnosis of caudal regression syndrome. (17686358)
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
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141)
2005
24
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. (15791681)
2005
25
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. (14694401)
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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UniProtKB/Swiss-Prot genetic disease variations for Caudal Regression Syndrome:

62
id Symbol AA change Variation ID SNP ID
1VANGL1p.Val239IleVAR_035209

Expression for genes affiliated with Caudal Regression Syndrome

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

Pathways for genes affiliated with Caudal Regression Syndrome

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Pathways related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3RARA, CYP26A1
29.3RARA, CYP26A1
39.3CYP26A1, RARA
49.1WT1, RARA
59.1WT1, RARA

Compounds for genes affiliated with Caudal Regression Syndrome

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Compounds related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1ttab439.6RARA, CYP26A1
2am 580439.6RARA, CYP26A1
3retinaldehyde439.6RARA, CYP26A1
4acitretin43 1210.6CYP26A1, RARA
5isotretinoin43 1210.5RARA, CYP26A1
6n-(4-hydroxyphenyl)retinamide439.5CYP26A1, RARA
7vitamin a43 24 1211.3RARA, CYP26A1
81,25 dihydroxy vitamin d3439.2WT1, RARA
9ornithine43 2410.2WT1, RARA
10imatinib43 49 1211.1RARA, WT1
11arsenite43 2410.0WT1, RARA
12calcitriol43 59 24 1211.8WT1, RARA
13retinoic acid43 249.2WT1, RARA, MNX1, CYP26A1

GO Terms for genes affiliated with Caudal Regression Syndrome

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Biological processes related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid receptor signaling pathwayGO:00483849.3RARA, CYP26A1
2cellular response to retinoic acidGO:00713009.3RARA, CYP26A1
3diaphragm developmentGO:00605399.2WT1, MNX1
4germ cell developmentGO:00072819.0RARA, WT1
5ureteric bud developmentGO:00016578.8WT1, RARA

Molecular functions related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:00019729.2RARA, CYP26A1
2sequence-specific DNA binding transcription factor activityGO:00037008.6WT1, RARA, MNX1
3sequence-specific DNA bindingGO:00435658.3WT1, RARA, MNX1

Products for genes affiliated with Caudal Regression Syndrome

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Sources for Caudal Regression Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet