MCID: CDL003
MIFTS: 51

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:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Caudal Regression Syndrome:

Name: Caudal Regression Syndrome 52 48 25 27 12
Sacral Defect with Anterior Meningocele 52 48 24 25 70 27
Caudal Dysgenesis Syndrome 48 24 25 68
Caudal Regression Sequence 48 25 54
Sacral Agenesis Syndrome 48 54 68
Sacral Regression Syndrome 48 54
Caudal Dysplasia 48 54
Sacral Agenesis 48 25
 
Sirenomelia 54 68
Sdam 48 70
Sacral Defect and Anterior Sacral Meningocele 68
Familial Caudal Dysgenesis 48
Caudal Dysplasia Sequence 25
Rudd-Klimek Syndrome 48
Rudd Klimek Syndrome 68

Characteristics:

Orphanet epidemiological data:

54
caudal regression sequence:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal
sirenomelia:
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal

HPO:

64
caudal regression syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 600145
ICD10 via Orphanet31 Q87.2, Q76.0
MESH via Orphanet40 C538595
UMLS via Orphanet69 C0037205, C0300948, C0344490

Summaries for Caudal Regression Syndrome

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OMIM:52 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 limbs/digits/tail.

UniProtKB/Swiss-Prot:70 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.

Genetics Home Reference:25 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:48 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

Wikipedia:71 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 45)
idRelated DiseaseScoreTop Affiliating Genes
1myelocystocele29.1FUZ, VANGL1
2sacral agenesis with vertebral anomalies12.3
3familial caudal dysgenesis12.2
4currarino syndrome11.3
5currarino triad11.3
6holoprosencephaly caudal dysgenesis11.0
7spranger schinzel myers syndrome10.9
8sirenomelia10.0
9neurogenic bladder9.9
10meningocele9.9
11holoprosencephaly9.9
12alobar holoprosencephaly9.8
13cervical spina bifida cystica9.8FUZ, VANGL1
14thoracolumbosacral spina bifida cystica9.8FUZ, VANGL1
15total spina bifida cystica9.8FUZ, VANGL1
16upper thoracic spina bifida aperta9.8FUZ, VANGL1
17pseudohermaphroditism9.8
18occipital encephalocele9.8FUZ, VANGL1
19cranial meningocele9.7FUZ, VANGL1
20cervicothoracic spina bifida aperta9.7FUZ, VANGL1
21axial mesodermal dysplasia spectrum9.7
22open iniencephaly9.7FUZ, VANGL1
23williams-beuren syndrome9.7
24pierre robin syndrome9.7
25lipoma9.7
26diastematomyelia9.7
27juvenile glaucoma9.7
28arachnoiditis9.7
29urethritis9.7
30biliary atresia9.7
31spinal cord lipoma9.7
32constipation9.7
33cervicitis9.7
34syringomyelia9.7
35urethral diverticulum9.7
36meningitis9.7
37arachnoid cysts9.7
38lobar holoprosencephaly9.7
39closed iniencephaly9.6FUZ, VANGL1
40alagille syndrome9.6
41spina bifida aperta9.6FUZ, VANGL1
42hand, foot and mouth disease9.6MNX1, VANGL1
43mycophenolate mofetil embryopathy9.5FUZ, VANGL1
44herpes simplex encephalitis 19.5CYP26A1, RARA
45neural tube defects9.1CYP26A1, FUZ, MNX1, VANGL1

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



Diseases related to caudal regression syndrome

Symptoms & Phenotypes for Caudal Regression Syndrome

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Symptoms by clinical synopsis from OMIM:

600145

Clinical features from OMIM:

600145

Human phenotypes related to Caudal Regression Syndrome:

 64 54 (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ambiguous genitalia64 54 hallmark (90%) Very frequent (99-80%) HP:0000062
2 single umbilical artery64 hallmark (90%) HP:0001195
3 bowel incontinence64 54 hallmark (90%) Very frequent (99-80%) HP:0002607
4 abnormality of pelvic girdle bone morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0002644
5 skeletal muscle atrophy64 hallmark (90%) HP:0003202
6 abnormal form of the vertebral bodies64 hallmark (90%) HP:0003312
7 vertebral segmentation defect64 hallmark (90%) HP:0003422
8 aplasia/hypoplasia of the sacrum64 54 hallmark (90%) Very frequent (99-80%) HP:0008517
9 renal hypoplasia/aplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0008678
10 maternal diabetes64 54 hallmark (90%) Very frequent (99-80%) HP:0009800
11 sirenomelia64 54 hallmark (90%) Very frequent (99-80%) HP:0010497
12 urogenital fistula64 hallmark (90%) HP:0100589
13 abnormality of female internal genitalia64 typical (50%) HP:0000008
14 vesicoureteral reflux64 54 typical (50%) Frequent (79-30%) HP:0000076
15 reduced tendon reflexes64 54 typical (50%) Frequent (79-30%) HP:0001315
16 limitation of joint mobility64 typical (50%) HP:0001376
17 oligohydramnios64 typical (50%) HP:0001562
18 transposition of the great arteries64 typical (50%) HP:0001669
19 talipes64 typical (50%) HP:0001883
20 spina bifida64 54 typical (50%) Frequent (79-30%) HP:0002414
21 tracheoesophageal fistula64 54 typical (50%) Frequent (79-30%) HP:0002575
22 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
23 ectopic anus64 typical (50%) HP:0004397
24 aplasia/hypoplasia of the radius64 54 typical (50%) Frequent (79-30%) HP:0006501
25 abnormal localization of kidney64 typical (50%) HP:0100542
26 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
27 renal insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0000083
28 oral cleft64 54 occasional (7.5%) Occasional (29-5%) HP:0000202
29 abnormality of the ribs64 occasional (7.5%) HP:0000772
30 hypertension64 54 occasional (7.5%) Occasional (29-5%) HP:0000822
31 holoprosencephaly64 occasional (7.5%) HP:0001360
32 arnold-chiari malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0002308
33 aplasia/hypoplasia of the lungs64 occasional (7.5%) HP:0006703
34 neurogenic bladder64 HP:0000011
35 meningitis64 HP:0001287
36 constipation64 HP:0002019
37 headache64 HP:0002315
38 back pain64 HP:0003418
39 rectal abscess64 HP:0005224
40 anterior sacral meningocele64 HP:0007293
41 sacral lipoma64 HP:0012033
42 abnormality of the urinary system54 Very frequent (99-80%)
43 abnormality of the cardiovascular system54 Frequent (79-30%)
44 anal atresia54 Very frequent (99-80%)
45 abnormality of the ureter54 Frequent (79-30%)
46 ureteral duplication54 Frequent (79-30%)
47 ectopic kidney54 Frequent (79-30%)
48 renal agenesis54 Frequent (79-30%)
49 missing ribs54 Occasional (29-5%)
50 joint stiffness54 Frequent (79-30%)
51 talipes equinovarus54 Frequent (79-30%)
52 pulmonary hypoplasia54 Occasional (29-5%)
53 arrhinencephaly54 Occasional (29-5%)
54 malformation of the heart and great vessels54 Frequent (79-30%)
55 decreased muscle mass54 Very frequent (99-80%)
56 abnormal vertebral segmentation and fusion54 Very frequent (99-80%)
57 hypoplastic vertebral bodies54 Very frequent (99-80%)
58 abnormality of the wing of the ilium54 Very frequent (99-80%)
59 impulsivity54 Very frequent (99-80%)

UMLS symptoms related to Caudal Regression Syndrome:


back pain, headache

MGI Mouse Phenotypes related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:

41 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.9FUZ, RARA, VANGL1
2MP:00053719.3CYP26A1, FUZ, RARA, VANGL1
3MP:00053819.2CYP26A1, FUZ, MNX1, RARA
4MP:00053699.0FUZ, MNX1, RARA, WT1
5MP:00036318.7CYP26A1, FUZ, MNX1, RARA, VANGL1
6MP:00053808.5CYP26A1, FUZ, RARA, VANGL1, WT1
7MP:00053888.5FUZ, MNX1, RARA, VANGL1, WT1
8MP:00028738.3CYP26A1, MNX1, RARA, VANGL1, WT1
9MP:00053858.0CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
10MP:00053848.0CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
11MP:00053788.0CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
12MP:00107687.9CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
13MP:00053907.9CYP26A1, FUZ, MNX1, RARA, VANGL1

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 Meningocele27
2 Anterior Sacral Meningocele27
3 Caudal Regression Syndrome27
4 Caudal Dysgenesis Syndrome24 VANGL1

Anatomical Context for Caudal Regression Syndrome

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MalaCards organs/tissues related to Caudal Regression Syndrome:

36
Spinal cord, Kidney, Bone, Lung, Skeletal muscle, Heart, Pancreas

Publications for Caudal Regression Syndrome

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Articles related to Caudal Regression Syndrome:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Targeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats. (27727328)
2016
2
Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients. (27833778)
2016
3
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. (26239763)
2015
4
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia and horse-shoe kidney. (26482981)
2015
5
In utero diagnosis of caudal regression syndrome. (27408660)
2015
6
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. (25845272)
2015
7
A case of caudal regression syndrome: walking or sitting? (25400859)
2014
8
Sirenomelia and severe caudal regression syndrome. (25551110)
2014
9
High abrupt cord termination: a hallmark of caudal regression syndrome. (24473424)
2014
10
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. (23652529)
2013
11
A rare congenital malformation: caudal regression syndrome. (23504067)
2013
12
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. (24083063)
2013
13
Conjoined legs: Sirenomelia or caudal regression syndrome? (23960288)
2013
14
Caudal regression syndrome. (23445152)
2013
15
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. (22761628)
2012
16
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. (22526445)
2012
17
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. (22995555)
2012
18
Scoliotic deformity and asymptomatic cervical syrinx in a 9 year old with caudal regression syndrome. (23560005)
2012
19
Teaching NeuroImages: caudal regression syndrome. (22170950)
2011
20
Juvenile glaucoma in a child with caudal regression syndrome. (20809909)
2011
21
Unusual coexistence of caudal duplication and caudal regression syndromes. (21238681)
2011
22
Prenatal diagnosis of caudal regression syndrome without maternal diabetes mellitus. (24591990)
2011
23
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. (21509087)
2010
24
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. (22953253)
2010
25
Caudal regression syndrome in one of dizygotic twins. (21043567)
2010
26
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. (19995255)
2009
27
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. (19198864)
2009
28
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. (19536863)
2009
29
Recognition of caudal regression syndrome. (19363325)
2009
30
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. (18358295)
2008
31
Caudal regression syndrome. (18536840)
2008
32
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. (19099562)
2008
33
Pre-natal diagnosis of caudal regression syndrome. (17686358)
2007
34
Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion. (16949239)
2007
35
Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome. (17968797)
2007
36
Caudal regression syndrome with sacral rib: MRI features. (17050368)
2006
37
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. (17021725)
2006
38
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. (16463413)
2006
39
HLXB9 homeobox gene and caudal regression syndrome. (16498628)
2006
40
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141)
2005
41
Caudal regression syndrome--case report and review of literature. (15977017)
2005
42
Anesthesia in caudal regression syndrome. (15675942)
2005
43
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. (15791681)
2005
44
Implication of Wt1 in the pathogenesis of nephrogenic failure in a mouse model of retinoic acid-induced caudal regression syndrome. (15855632)
2005
45
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. (14694401)
2004
46
Perinatal identification of caudal regression syndrome and alobar holoprosencephaly in pregnancies with poor maternal metabolic control. (15658628)
2004
47
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. (15266776)
2004
48
Case 66: caudal regression syndrome in the fetus of a diabetic mother. (14695398)
2004
49
Chiari I malformation and caudal regression syndrome: a previously unreported association. (12868483)
2003
50
Infantile glaucoma and punctal atresia in a child with caudal regression syndrome. (12917621)
2003

Variations for Caudal Regression Syndrome

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

70
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
39.3CYP26A1, 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:00018439.9FUZ, RARA
2germ cell developmentGO:00072819.8RARA, WT1
3male gonad developmentGO:00085849.8RARA, WT1
4negative regulation of cell proliferationGO:00082859.2FUZ, RARA, WT1
5ureteric bud developmentGO:00016579.1RARA, WT1

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:000197210.0CYP26A1, RARA
2sequence-specific DNA bindingGO:00435658.6MNX1, RARA, WT1

Sources for Caudal Regression Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet