MCID: CDL003
MIFTS: 54

Caudal Regression Syndrome malady

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

Aliases & Classifications for Caudal Regression Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Caudal Regression Syndrome:

Name: Caudal Regression Syndrome 49 11 45 23
Sacral Defect with Anterior Meningocele 45 22 23 24 67
Caudal Dysgenesis Syndrome 45 22 23 65
Caudal Regression Sequence 45 23 51
Sacral Agenesis Syndrome 45 51 65
Sacral Regression Syndrome 45 51
 
Caudal Dysplasia 45 51
Sacral Agenesis 45 23
Sdam 45 67
Sacral Defect and Anterior Sacral Meningocele 65
Caudal Dysplasia Sequence 23
Rudd Klimek Syndrome 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
caudal regression sequence:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 600145
Orphanet51 3027
ICD10 via Orphanet28 Q76.0
UMLS via Orphanet66 C0300948, C0344490

Summaries for Caudal Regression Syndrome

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OMIM:49 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 sirenomelia 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 testes, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

NIH Rare Diseases:45 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

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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:68 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 top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1sirenomelia10.5
2sacral agenesis with vertebral anomalies10.5
3holoprosencephaly10.4
4alobar holoprosencephaly10.3
5meningocele10.3
6sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome10.3
7currarino syndrome10.2
8neurogenic bladder10.2
9currarino triad10.2
10williams-beuren syndrome10.2
11pierre robin syndrome10.2
12lipoma10.2
13juvenile glaucoma10.2
14biliary atresia10.2
15urethritis10.2
16spinal cord lipoma10.2
17arachnoiditis10.2
18urethral diverticulum10.2
19syringomyelia10.2
20cervicitis10.2
21constipation10.2
22meningitis10.2
23annular pancreas10.2
24arachnoid cysts10.2
25split cord malformation10.2
26diabetic embryopathy10.2
27myelocystocele10.2
28lobar holoprosencephaly10.2
29polydactyly10.1
30imperforate anus10.1
31myelomeningocele10.1
32hypopituitarism10.1
33amniotic band syndrome10.1
34anorectal atresia10.1
35ring chromosome 710.1
36spranger schinzel myers syndrome10.1
37triphalangeal thumb10.1
38neurenteric cyst10.1
39alagille syndrome10.1
40pseudohermaphroditism10.1
4121q22.13q22.2 microdeletion syndrome9.9FUZ, VANGL1
42cervicothoracic spina bifida cystica9.9FUZ, VANGL1
43lumbosacral spina bifida cystica9.9FUZ, VANGL1
44thoracolumbosacral spina bifida cystica9.9FUZ, VANGL1
45total spina bifida cystica9.9FUZ, VANGL1
46upper thoracic spina bifida aperta9.9FUZ, VANGL1
47occipital encephalocele9.9FUZ, VANGL1
48cranial meningocele9.9FUZ, VANGL1
49leukemia, acute promyelocytic, somatic9.9CYP26A1, RARA
50cervical spina bifida aperta9.9FUZ, 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

Symptoms:

 51 (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 46)
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 autosomal dominant inheritance HP:0000006
39 neurogenic bladder HP:0000011
40 meningitis HP:0001287
41 constipation HP:0002019
42 headache HP:0002315
43 back pain HP:0003418
44 rectal abscess HP:0005224
45 anterior sacral meningocele HP:0007293
46 sacral lipoma HP:0012033

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 Caudal Dysgenesis Syndrome22 VANGL1
2 Sacral Defect with Anterior Meningocele24

Anatomical Context for Caudal Regression Syndrome

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MalaCards organs/tissues related to Caudal Regression Syndrome:

33
Spinal cord, Kidney, Testes, Lung, Bone, Skeletal muscle, Colon

Animal Models for Caudal Regression Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Caudal Regression Syndrome:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5FUZ, RARA, VANGL1
2MP:00053718.7CYP26A1, FUZ, RARA, VANGL1
3MP:00053698.6FUZ, MNX1, RARA, WT1
4MP:00053908.6CYP26A1, FUZ, MNX1, RARA
5MP:00053818.5CYP26A1, FUZ, MNX1, RARA
6MP:00053798.4FUZ, MNX1, RARA, WT1
7MP:00053888.0FUZ, MNX1, RARA, VANGL1, WT1
8MP:00028738.0CYP26A1, MNX1, RARA, VANGL1, WT1
9MP:00053807.9CYP26A1, FUZ, RARA, VANGL1, WT1
10MP:00053847.8CYP26A1, FUZ, MNX1, RARA, WT1
11MP:00053897.8CYP26A1, RARA, VANGL1, WT1
12MP:00053787.7CYP26A1, MNX1, RARA, VANGL1, WT1
13MP:00036317.6CYP26A1, FUZ, MNX1, RARA, VANGL1
14MP:00053857.4CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
15MP:00107687.3CYP26A1, 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 84)
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
A case of caudal regression syndrome: walking or sitting? (25400859)
2014
4
Sirenomelia and severe caudal regression syndrome. (25551110)
2014
5
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. (24083063)
2013
6
Conjoined legs: Sirenomelia or caudal regression syndrome? (23960288)
2013
7
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. (23652529)
2013
8
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. (22761628)
2012
9
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. (22526445)
2012
10
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. (21509087)
2010
11
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. (22953253)
2010
12
Caudal regression syndrome in one of dizygotic twins. (21043567)
2010
13
Recognition of caudal regression syndrome. (19363325)
2009
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
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. (18358295)
2008
17
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. (19099562)
2008
18
Caudal regression syndrome. (18536840)
2008
19
Pre-natal diagnosis of caudal regression syndrome. (17686358)
2007
20
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. (16463413)
2006
21
HLXB9 homeobox gene and caudal regression syndrome. (16498628)
2006
22
Caudal regression syndrome--case report and review of literature. (15977017)
2005
23
Anesthesia in caudal regression syndrome. (15675942)
2005
24
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141)
2005
25
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. (14694401)
2004
26
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. (15266776)
2004
27
Case 66: caudal regression syndrome in the fetus of a diabetic mother. (14695398)
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
Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. (11733381)
2001
32
Caudal regression syndrome. (11175945)
2001
33
Prenatal diagnosis of Caudal Regression Syndrome : a case report. (11782287)
2001
34
A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst. (10705931)
1999
35
Caudal regression syndrome detected in a fetus with increased nuchal translucency. (10422916)
1999
36
Retinoic acid-induced caudal regression syndrome in the mouse fetus. (9535508)
1998
37
Caudal regression syndrome: MR appearance. (9745947)
1998
38
Early detection of caudal regression syndrome: specific interest and findings in three cases. (9758271)
1998
39
MR of the caudal regression syndrome: embryologic implications. (8073969)
1994
40
Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence). (8126785)
1994
41
Gram-negative meningitis and chronic constipation: an unusual presentation of caudal regression syndrome. (8255844)
1993
42
Spinal cord abnormalities in caudal regression syndrome. (2028749)
1991
43
Caudal regression syndrome and spondyloepiphyseal dysplasia in a 6-year-old child. A new syndrome? (2287549)
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:

67
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
19.1CYP26A1, RARA
2
Show member pathways
9.1CYP26A1, RARA
3
Show member pathways
9.1CYP26A1, RARA
49.1CYP26A1, 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
1diaphragm developmentGO:00605399.6MNX1, WT1
2ureteric bud developmentGO:00016579.4RARA, WT1
3germ cell developmentGO:00072819.3RARA, WT1
4neural tube closureGO:00018439.2FUZ, RARA

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:00019729.3CYP26A1, RARA
2sequence-specific DNA bindingGO:00435658.8MNX1, RARA, WT1

Sources for Caudal Regression Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet