MCID: CDL003
MIFTS: 61

Caudal Regression Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases categories
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Summaries for Caudal Regression Syndrome

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NIH Rare Diseases:42 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 based summary: Caudal Regression Syndrome, also known as caudal regression sequence, is related to meningocele and imperforate anus, and has symptoms including sacrococcyx agenesis, sirenomelia/mermaid/lower limb fusion and imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula. 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 testes, 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.

Wikipedia:65 Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a congenital disorder in... more...

Description from OMIM:46 600145

Aliases & Classifications for Caudal Regression Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Caudal Regression Syndrome, Aliases & Descriptions:

Name: Caudal Regression Syndrome 42 21 46
Caudal Regression Sequence 42 21 48
Sacral Agenesis Syndrome 42 48 62
Sacral Defect with Anterior Meningocele 21 62
Sacral Regression Syndrome 42 48
Familial Caudal Dysgenesis 48 62
Caudal Dysgenesis Syndrome 21 62
 
Caudal Dysplasia 42 48
Sacral Agenesis 42 21
Sirenomelia 48 62
Caudal Dysplasia Sequence 21
Rudd Klimek Syndrome 62
Rudd-Klimek Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 600145
MESH via Orphanet35 C538595
ICD10 via Orphanet26 Q87.2, Q76.0, Q87.8
UMLS via Orphanet63 C0037205, C0300948, C0344490

Related Diseases for Caudal Regression Syndrome

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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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Symptoms by clinical synopsis from OMIM:

600145

Clinical features from OMIM:

600145

Symptoms:

48 (show all 44)
  • sacrococcyx agenesis
  • sirenomelia/mermaid/lower limb fusion
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • agenesis/hypoplasia/aplasia of kidneys
  • bladder and ureter anomalies
  • structural anomalies of the genital system
  • ambiguous genitalia
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • structural anomalies of the cardio-circulatory system
  • spina bifida
  • vertebral segmentation anomaly/hemivertebrae
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • encopresis/fecal incontinence
  • motor deficit/trouble
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • polygenic/multifactorial inheritance
  • maternal diabetes
  • scoliosis
  • talipes-varus/metatarsal varus
  • congenital cardiac anomaly/malformation/cardiopathy
  • 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
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • arnold-chiari anomaly
  • stillbirth/neonatal death
  • abnormal vertebral size/shape
  • single umbilical artery
  • autosomal dominant inheritance
  • anus ectopia/anteposition/malposition
  • transposition of great vessels
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • uterine/uterus/fallopian tubes anomalies
  • oligoamnios

HPO human phenotypes related to Caudal Regression Syndrome:

(show all 52)
id Description Frequency HPO Source Accession
1 single umbilical artery hallmark (90%) HP:0001195
2 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
3 bowel incontinence hallmark (90%) HP:0002607
4 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
5 amyotrophy hallmark (90%) HP:0003202
6 vertebral segmentation defect hallmark (90%) HP:0003422
7 aplasia/hypoplasia of the sacrum hallmark (90%) HP:0008517
8 maternal diabetes hallmark (90%) HP:0009800
9 ambiguous genitalia hallmark (90%) HP:0000062
10 aplasia/hypoplasia of the sacrum hallmark (90%) HP:0008517
11 renal hypoplasia/aplasia hallmark (90%) HP:0008678
12 sirenomelia hallmark (90%) HP:0010497
13 urogenital fistula hallmark (90%) HP:0100589
14 abnormality of female internal genitalia typical (50%) HP:0000008
15 abnormality of the ureter typical (50%) HP:0000069
16 oligohydramnios typical (50%) HP:0001562
17 transposition of the great arteries typical (50%) HP:0001669
18 ectopic anus typical (50%) HP:0004397
19 aplasia/hypoplasia of the sacrum typical (50%) HP:0008517
20 renal hypoplasia/aplasia typical (50%) HP:0008678
21 urogenital fistula typical (50%) HP:0100589
22 vesicoureteral reflux typical (50%) HP:0000076
23 reduced tendon reflexes typical (50%) HP:0001315
24 limitation of joint mobility typical (50%) HP:0001376
25 talipes typical (50%) HP:0001883
26 malformation of the heart and great vessels typical (50%) HP:0002564
27 scoliosis typical (50%) HP:0002650
28 renal hypoplasia/aplasia typical (50%) HP:0008678
29 abnormal localization of kidney typical (50%) HP:0100542
30 urogenital fistula typical (50%) HP:0100589
31 abnormality of the cardiovascular system typical (50%) HP:0001626
32 spina bifida typical (50%) HP:0002414
33 tracheoesophageal fistula typical (50%) HP:0002575
34 aplasia/hypoplasia of the radius typical (50%) HP:0006501
35 cryptorchidism occasional (7.5%) HP:0000028
36 ambiguous genitalia occasional (7.5%) HP:0000062
37 renal insufficiency occasional (7.5%) HP:0000083
38 oral cleft occasional (7.5%) HP:0000202
39 abnormality of the ribs occasional (7.5%) HP:0000772
40 hypertension occasional (7.5%) HP:0000822
41 holoprosencephaly occasional (7.5%) HP:0001360
42 arnold-chiari malformation occasional (7.5%) HP:0002308
43 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
44 autosomal dominant inheritance HP:0000006
45 neurogenic bladder HP:0000011
46 meningitis HP:0001287
47 constipation HP:0002019
48 headache HP:0002315
49 back pain HP:0003418
50 rectal abscess HP:0005224
51 anterior sacral meningocele HP:0007293
52 sacral lipoma HP:0012033

Drugs & Therapeutics for Caudal Regression Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Caudal Regression Syndrome

Genetic Tests for Caudal Regression Syndrome

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Anatomical Context for Caudal Regression Syndrome

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MalaCards organs/tissues related to Caudal Regression Syndrome:

32
Spinal cord, Kidney, Testes, Lung, Uterus, Bone, 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 79)
idTitleAuthorsYear
1
A case of caudal regression syndrome: walking or sitting? (25400859)
2014
2
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. (24083063)
2013
3
Conjoined legs: Sirenomelia or caudal regression syndrome? (23960288)
2013
4
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. (23652529)
2013
5
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. (22761628)
2012
6
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. (22526445)
2012
7
Juvenile glaucoma in a child with caudal regression syndrome. (20809909)
2011
8
Unusual coexistence of caudal duplication and caudal regression syndromes. (21238681)
2011
9
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. (21509087)
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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UniProtKB/Swiss-Prot genetic disease variations for Caudal Regression Syndrome:

64
id Symbol AA change Variation ID SNP ID
1VANGL1p.Val239IleVAR_035209

Expression for genes affiliated with Caudal Regression Syndrome

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

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/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1ttab449.6RARA, CYP26A1
2am 580449.6RARA, CYP26A1
3retinaldehyde449.6RARA, CYP26A1
4acitretin44 1110.6CYP26A1, RARA
5isotretinoin44 1110.5RARA, CYP26A1
6n-(4-hydroxyphenyl)retinamide449.5CYP26A1, RARA
7vitamin a44 24 1111.3RARA, CYP26A1
81,25 dihydroxy vitamin d3449.2WT1, RARA
9ornithine44 2410.2WT1, RARA
10imatinib44 50 1111.1RARA, WT1
11arsenite44 2410.0WT1, RARA
12calcitriol44 61 24 1111.8WT1, RARA
13retinoic acid44 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid receptor signaling pathwayGO:0483849.3RARA, CYP26A1
2cellular response to retinoic acidGO:0713009.3RARA, CYP26A1
3diaphragm developmentGO:0605399.2WT1, MNX1
4germ cell developmentGO:0072819.0RARA, WT1
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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Sources for Caudal Regression Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet