MCID: CDL003
MIFTS: 52

Caudal Regression Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Caudal Regression Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 24Genetics Home Reference, 25GTR, 12diseasecard, 23GeneTests, 68UniProtKB/Swiss-Prot, 66UMLS, 52Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Caudal Regression Syndrome:

Name: Caudal Regression Syndrome 50 46 24 25 12
Sacral Defect with Anterior Meningocele 50 46 23 24 68 25
Caudal Dysgenesis Syndrome 46 23 24 66
Caudal Regression Sequence 46 24 52
Sacral Agenesis Syndrome 46 52 66
Sacral Regression Syndrome 46 52
 
Caudal Dysplasia 46 52
Sacral Agenesis 46 24
Sirenomelia 52 66
Sdam 46 68
Sacral Defect and Anterior Sacral Meningocele 66
Caudal Dysplasia Sequence 24

Characteristics:

Orphanet epidemiological data:

52
sirenomelia:
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal
caudal regression sequence:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

HPO:

62
caudal regression syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 600145
ICD10 via Orphanet29 Q87.2, Q76.0
MESH via Orphanet38 C538595
UMLS via Orphanet67 C0037205, C0300948, C0344490

Summaries for Caudal Regression Syndrome

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OMIM:50 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 myelocystocele and sacral agenesis with vertebral anomalies, and has symptoms including ambiguous genitalia, single umbilical artery and bowel incontinence. 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 bone, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

Genetics Home Reference:24 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:46 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:68 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.

Wikipedia:69 Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a congenital disorder in... more...

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 all 44)
idRelated DiseaseScoreTop Affiliating Genes
1myelocystocele29.2FUZ, VANGL1
2sacral agenesis with vertebral anomalies12.3
3currarino triad11.6
4holoprosencephaly caudal dysgenesis11.1
5spranger schinzel myers syndrome11.1
6currarino syndrome10.6
7sirenomelia10.1
8neurogenic bladder10.0
9meningocele10.0
10holoprosencephaly10.0
11alobar holoprosencephaly9.9
12pseudohermaphroditism9.9
13cervical spina bifida cystica9.8FUZ, VANGL1
14thoracolumbosacral spina bifida cystica9.8FUZ, VANGL1
15herpes simplex encephalitis 19.8CYP26A1, RARA
16williams-beuren syndrome9.8
17pierre robin syndrome9.8
18lipoma9.8
19diastematomyelia9.8
20juvenile glaucoma9.8
21arachnoiditis9.8
22urethritis9.8
23biliary atresia9.8
24spinal cord lipoma9.8
25constipation9.8
26cervicitis9.8
27syringomyelia9.8
28urethral diverticulum9.8
29meningitis9.8
30arachnoid cysts9.8
31lobar holoprosencephaly9.8
32total spina bifida cystica9.8FUZ, VANGL1
33upper thoracic spina bifida aperta9.8FUZ, VANGL1
34alagille syndrome9.7
35occipital encephalocele9.7FUZ, VANGL1
36cranial meningocele9.7FUZ, VANGL1
37cervicothoracic spina bifida aperta9.7FUZ, VANGL1
38open iniencephaly9.6FUZ, VANGL1
39closed iniencephaly9.6FUZ, VANGL1
40spina bifida aperta9.5FUZ, VANGL1
41mycophenolate mofetil embryopathy9.4FUZ, VANGL1
42hand, foot and mouth disease9.3MNX1, VANGL1
43neural tube defects9.0CYP26A1, FUZ, MNX1, VANGL1
44caudal regression syndrome7.9CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1

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:

 52 (show all 36)
  • ambiguous genitalia
  • abnormality of the urinary system
  • abnormality of the cardiovascular system
  • anal atresia
  • spina bifida
  • tracheoesophageal fistula
  • aplasia/hypoplasia of the radius
  • renal hypoplasia/aplasia
  • sirenomelia
  • cryptorchidism
  • abnormality of the ureter
  • ureteral duplication
  • vesicoureteral reflux
  • renal insufficiency
  • ectopic kidney
  • renal agenesis
  • oral cleft
  • hypertension
  • missing ribs
  • reduced tendon reflexes
  • joint stiffness
  • talipes equinovarus
  • pulmonary hypoplasia
  • arrhinencephaly
  • arnold-chiari malformation
  • malformation of the heart and great vessels
  • bowel incontinence
  • abnormality of pelvic girdle bone morphology
  • scoliosis
  • decreased muscle mass
  • abnormal vertebral segmentation and fusion
  • hypoplastic vertebral bodies
  • aplasia/hypoplasia of the sacrum
  • maternal diabetes
  • abnormality of the wing of the ilium
  • impulsivity

HPO human phenotypes related to Caudal Regression Syndrome:

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

UMLS symptoms related to Caudal Regression Syndrome:


back pain, headache

Drugs & Therapeutics for Caudal Regression Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Sacral Defect with Anterior Meningocele25
2 Anterior Sacral Meningocele25
3 Caudal Regression Syndrome25
4 Caudal Dysgenesis Syndrome23 VANGL1

Anatomical Context for Caudal Regression Syndrome

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MalaCards organs/tissues related to Caudal Regression Syndrome:

34
Spinal cord, Kidney, Bone, Lung, Skeletal muscle, Heart, Pancreas

Animal Models for Caudal Regression Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Caudal Regression Syndrome:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6FUZ, RARA, VANGL1
2MP:00053818.6CYP26A1, FUZ, MNX1, RARA
3MP:00053698.5FUZ, MNX1, RARA, WT1
4MP:00053718.2CYP26A1, FUZ, RARA, VANGL1
5MP:00036318.1CYP26A1, FUZ, MNX1, RARA, VANGL1
6MP:00053888.0FUZ, MNX1, RARA, VANGL1, WT1
7MP:00053907.9CYP26A1, FUZ, MNX1, RARA, VANGL1
8MP:00053807.9CYP26A1, FUZ, RARA, VANGL1, WT1
9MP:00028737.6CYP26A1, MNX1, RARA, VANGL1, WT1
10MP:00053847.5CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
11MP:00107687.3CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
12MP:00053857.1CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
13MP:00053787.0CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1

Publications for Caudal Regression Syndrome

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Articles related to Caudal Regression Syndrome:

(show top 50)    (show all 86)
idTitleAuthorsYear
1
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. (26239763)
2015
2
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia and horse-shoe kidney. (26482981)
2015
3
In utero diagnosis of caudal regression syndrome. (27408660)
2015
4
A case of caudal regression syndrome: walking or sitting? (25400859)
2014
5
Sirenomelia and severe caudal regression syndrome. (25551110)
2014
6
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. (23652529)
2013
7
A rare congenital malformation: caudal regression syndrome. (23504067)
2013
8
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. (24083063)
2013
9
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. (22761628)
2012
10
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. (22526445)
2012
11
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. (22995555)
2012
12
Teaching NeuroImages: caudal regression syndrome. (22170950)
2011
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
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. (19536863)
2009
16
Recognition of caudal regression syndrome. (19363325)
2009
17
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. (18358295)
2008
18
Caudal regression syndrome. (18536840)
2008
19
Pre-natal diagnosis of caudal regression syndrome. (17686358)
2007
20
Caudal regression syndrome with sacral rib: MRI features. (17050368)
2006
21
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. (17021725)
2006
22
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. (16463413)
2006
23
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141)
2005
24
Caudal regression syndrome--case report and review of literature. (15977017)
2005
25
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. (14694401)
2004
26
Perinatal identification of caudal regression syndrome and alobar holoprosencephaly in pregnancies with poor maternal metabolic control. (15658628)
2004
27
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. (15266776)
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: an online multicentre survey. Urological long-term results. (12585250)
2002
31
Caudal Regression Syndrome in twin pregnancy with type II diabetes. (11896527)
2002
32
Prenatal diagnosis of Caudal Regression Syndrome : a case report. (11782287)
2001
33
Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. (11733381)
2001
34
Caudal regression syndrome. (11175945)
2001
35
Caudal regression syndrome and annular pancreas: a rare association. (11045590)
2000
36
A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst. (10705931)
1999
37
Caudal regression syndrome detected in a fetus with increased nuchal translucency. (10422916)
1999
38
Retinoic acid-induced caudal regression syndrome in the mouse fetus. (9535508)
1998
39
Early detection of caudal regression syndrome: specific interest and findings in three cases. (9758271)
1998
40
Bone scintigraphy of caudal regression syndrome. (8896933)
1996
41
MR of the caudal regression syndrome: embryologic implications. (8073969)
1994
42
Spinal cord abnormalities in caudal regression syndrome. (2028749)
1991
43
Early detection of caudal regression syndrome with transvaginal scanning. (2406664)
1990
44
Caudal regression syndrome and spondyloepiphyseal dysplasia in a 6-year-old child. A new syndrome? (2287549)
1990
45
Topics in perinatal ultrasonography. Caudal regression syndrome. (3332895)
1987
46
In-utero diagnosis of the caudal regression syndrome: report of three cases. (3134449)
1987
47
Immature renal tissue in colonic wall of patient with caudal regression syndrome. (3013121)
1986
48
Sacral agenesis with associated anomalies (caudal regression syndrome): autopsy case report. (535268)
1979
49
Caudal regression syndrome: the urologic implications. (1195478)
1975
50
A diabetic embryopathy: the caudal regression syndrome. (5173752)
1971

Variations for Caudal Regression Syndrome

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

68
id Symbol AA change Variation ID SNP ID
1VANGL1p.Val239IleVAR_035209rs121918218

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 pathwaysScoreTop Affiliating Genes
19.3CYP26A1, RARA
2
Show member pathways
9.3CYP26A1, RARA
3
Show member pathways
9.3CYP26A1, RARA
49.3CYP26A1, RARA

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
1neural tube closureGO:00018439.8FUZ, RARA
2germ cell developmentGO:00072819.3RARA, WT1
3ureteric bud developmentGO:00016579.2RARA, WT1
4male gonad developmentGO:00085848.8RARA, WT1
5negative regulation of cell proliferationGO:00082858.7FUZ, RARA, WT1

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:00019729.6CYP26A1, RARA
2sequence-specific DNA bindingGO:00435658.6MNX1, RARA, WT1

Sources for Caudal Regression Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet