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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Caudal Regression Syndrome:

Name: Caudal Regression Syndrome 51 47 25 26 12
Sacral Defect with Anterior Meningocele 51 47 24 25 69 26
Caudal Dysgenesis Syndrome 47 24 25 67
Caudal Regression Sequence 47 25 53
Sacral Agenesis Syndrome 47 53 67
Sacral Regression Syndrome 47 53
Caudal Dysplasia 47 53
Sacral Agenesis 47 25
 
Sirenomelia 53 67
Sdam 47 69
Sacral Defect and Anterior Sacral Meningocele 67
Familial Caudal Dysgenesis 47
Caudal Dysplasia Sequence 25
Rudd-Klimek Syndrome 47
Rudd Klimek Syndrome 67

Characteristics:

Orphanet epidemiological data:

53
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:

63
caudal regression syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 600145
ICD10 via Orphanet30 Q87.2, Q76.0
MESH via Orphanet39 C538595
UMLS via Orphanet68 C0037205, C0300948, C0344490

Summaries for Caudal Regression Syndrome

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OMIM:51 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:69 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:47 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:70 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 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:

 63 53 (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ambiguous genitalia63 53 hallmark (90%) Very frequent (99-80%) HP:0000062
2 single umbilical artery63 hallmark (90%) HP:0001195
3 bowel incontinence63 53 hallmark (90%) Very frequent (99-80%) HP:0002607
4 abnormality of pelvic girdle bone morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0002644
5 skeletal muscle atrophy63 hallmark (90%) HP:0003202
6 abnormal form of the vertebral bodies63 hallmark (90%) HP:0003312
7 vertebral segmentation defect63 hallmark (90%) HP:0003422
8 aplasia/hypoplasia of the sacrum63 53 hallmark (90%) Very frequent (99-80%) HP:0008517
9 renal hypoplasia/aplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0008678
10 maternal diabetes63 53 hallmark (90%) Very frequent (99-80%) HP:0009800
11 sirenomelia63 53 hallmark (90%) Very frequent (99-80%) HP:0010497
12 urogenital fistula63 hallmark (90%) HP:0100589
13 abnormality of female internal genitalia63 typical (50%) HP:0000008
14 vesicoureteral reflux63 53 typical (50%) Frequent (79-30%) HP:0000076
15 reduced tendon reflexes63 53 typical (50%) Frequent (79-30%) HP:0001315
16 limitation of joint mobility63 typical (50%) HP:0001376
17 oligohydramnios63 typical (50%) HP:0001562
18 transposition of the great arteries63 typical (50%) HP:0001669
19 talipes63 typical (50%) HP:0001883
20 spina bifida63 53 typical (50%) Frequent (79-30%) HP:0002414
21 tracheoesophageal fistula63 53 typical (50%) Frequent (79-30%) HP:0002575
22 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
23 ectopic anus63 typical (50%) HP:0004397
24 aplasia/hypoplasia of the radius63 53 typical (50%) Frequent (79-30%) HP:0006501
25 abnormal localization of kidney63 typical (50%) HP:0100542
26 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
27 renal insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0000083
28 oral cleft63 53 occasional (7.5%) Occasional (29-5%) HP:0000202
29 abnormality of the ribs63 occasional (7.5%) HP:0000772
30 hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0000822
31 holoprosencephaly63 occasional (7.5%) HP:0001360
32 arnold-chiari malformation63 53 occasional (7.5%) Occasional (29-5%) HP:0002308
33 aplasia/hypoplasia of the lungs63 occasional (7.5%) HP:0006703
34 neurogenic bladder63 HP:0000011
35 meningitis63 HP:0001287
36 constipation63 HP:0002019
37 headache63 HP:0002315
38 back pain63 HP:0003418
39 rectal abscess63 HP:0005224
40 anterior sacral meningocele63 HP:0007293
41 sacral lipoma63 HP:0012033
42 abnormality of the urinary system53 Very frequent (99-80%)
43 abnormality of the cardiovascular system53 Frequent (79-30%)
44 anal atresia53 Very frequent (99-80%)
45 abnormality of the ureter53 Frequent (79-30%)
46 ureteral duplication53 Frequent (79-30%)
47 ectopic kidney53 Frequent (79-30%)
48 renal agenesis53 Frequent (79-30%)
49 missing ribs53 Occasional (29-5%)
50 joint stiffness53 Frequent (79-30%)
51 talipes equinovarus53 Frequent (79-30%)
52 pulmonary hypoplasia53 Occasional (29-5%)
53 arrhinencephaly53 Occasional (29-5%)
54 malformation of the heart and great vessels53 Frequent (79-30%)
55 decreased muscle mass53 Very frequent (99-80%)
56 abnormal vertebral segmentation and fusion53 Very frequent (99-80%)
57 hypoplastic vertebral bodies53 Very frequent (99-80%)
58 abnormality of the wing of the ilium53 Very frequent (99-80%)
59 impulsivity53 Very frequent (99-80%)

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 Meningocele26
2 Anterior Sacral Meningocele26
3 Caudal Regression Syndrome26
4 Caudal Dysgenesis Syndrome24 VANGL1

Anatomical Context for Caudal Regression Syndrome

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MalaCards organs/tissues related to Caudal Regression Syndrome:

35
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:

40 (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

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
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. (26239763)
2015
3
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia and horse-shoe kidney. (26482981)
2015
4
In utero diagnosis of caudal regression syndrome. (27408660)
2015
5
A case of caudal regression syndrome: walking or sitting? (25400859)
2014
6
Sirenomelia and severe caudal regression syndrome. (25551110)
2014
7
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. (23652529)
2013
8
A rare congenital malformation: caudal regression syndrome. (23504067)
2013
9
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. (24083063)
2013
10
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. (22761628)
2012
11
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. (22526445)
2012
12
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. (22995555)
2012
13
Teaching NeuroImages: caudal regression syndrome. (22170950)
2011
14
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. (19995255)
2009
15
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. (19198864)
2009
16
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. (19536863)
2009
17
Recognition of caudal regression syndrome. (19363325)
2009
18
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. (18358295)
2008
19
Caudal regression syndrome. (18536840)
2008
20
Pre-natal diagnosis of caudal regression syndrome. (17686358)
2007
21
Caudal regression syndrome with sacral rib: MRI features. (17050368)
2006
22
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. (17021725)
2006
23
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. (16463413)
2006
24
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141)
2005
25
Caudal regression syndrome--case report and review of literature. (15977017)
2005
26
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. (14694401)
2004
27
Perinatal identification of caudal regression syndrome and alobar holoprosencephaly in pregnancies with poor maternal metabolic control. (15658628)
2004
28
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. (15266776)
2004
29
Chiari I malformation and caudal regression syndrome: a previously unreported association. (12868483)
2003
30
Infantile glaucoma and punctal atresia in a child with caudal regression syndrome. (12917621)
2003
31
Caudal regression syndrome: an online multicentre survey. Urological long-term results. (12585250)
2002
32
Caudal Regression Syndrome in twin pregnancy with type II diabetes. (11896527)
2002
33
Prenatal diagnosis of Caudal Regression Syndrome : a case report. (11782287)
2001
34
Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. (11733381)
2001
35
Caudal regression syndrome. (11175945)
2001
36
Caudal regression syndrome and annular pancreas: a rare association. (11045590)
2000
37
A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst. (10705931)
1999
38
Caudal regression syndrome detected in a fetus with increased nuchal translucency. (10422916)
1999
39
Retinoic acid-induced caudal regression syndrome in the mouse fetus. (9535508)
1998
40
Early detection of caudal regression syndrome: specific interest and findings in three cases. (9758271)
1998
41
Bone scintigraphy of caudal regression syndrome. (8896933)
1996
42
MR of the caudal regression syndrome: embryologic implications. (8073969)
1994
43
Spinal cord abnormalities in caudal regression syndrome. (2028749)
1991
44
Early detection of caudal regression syndrome with transvaginal scanning. (2406664)
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:

69
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:00018439.7FUZ, RARA
2ureteric bud developmentGO:00016579.4RARA, WT1
3male gonad developmentGO:00085849.4RARA, WT1
4germ cell developmentGO:00072819.2RARA, 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:00019729.7CYP26A1, RARA
2sequence-specific DNA bindingGO:00435658.6MNX1, RARA, WT1

Sources for Caudal Regression Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet