MCID: CDL003
MIFTS: 53

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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Aliases & Descriptions for Caudal Regression Syndrome:

Name: Caudal Regression Syndrome 49 11 45 23
Sacral Defect with Anterior Meningocele 45 22 23 67 24
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
caudal regression syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 600145
Orphanet51 3027
ICD10 via Orphanet28 Q76.0
UMLS via Orphanet66 C0300948, C0344490
UMLS65 C1867774, C1838569, C1838568

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 sacral agenesis with vertebral anomalies and sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome, and has symptoms including urogenital fistula, sirenomelia and maternal diabetes. 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 lung, 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

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.

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.

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 51)
idRelated DiseaseScoreTop Affiliating Genes
1sacral agenesis with vertebral anomalies12.3
2sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome12.0
3currarino triad11.6
4holoprosencephaly caudal dysgenesis11.1
5spranger schinzel myers syndrome11.1
6currarino syndrome10.6
7sirenomelia10.1
8adrenal cortical hypofunction10.1CYP26A1, MNX1
9meningocele10.0
10neurogenic bladder10.0
11holoprosencephaly10.0
12alobar holoprosencephaly9.9
1321q22.13q22.2 microdeletion syndrome9.9FUZ, VANGL1
14cervicothoracic spina bifida cystica9.8FUZ, VANGL1
15meacham syndrome9.8MNX1, WT1
16lumbosacral spina bifida cystica9.8FUZ, VANGL1
17thoracolumbosacral spina bifida cystica9.8FUZ, VANGL1
18total spina bifida cystica9.8FUZ, VANGL1
19upper thoracic spina bifida aperta9.8FUZ, VANGL1
20occipital encephalocele9.8FUZ, VANGL1
21chronic apical periodontitis9.8CYP26A1, RARA
22herpes simplex encephalitis 19.8CYP26A1, RARA
23iliac vein thrombophlebitis9.8MNX1, VANGL1
24cranial meningocele9.8FUZ, VANGL1
25williams-beuren syndrome9.8
26pierre robin syndrome9.8
27lipoma9.8
28juvenile glaucoma9.8
29arachnoiditis9.8
30urethritis9.8
31biliary atresia9.8
32spinal cord lipoma9.8
33constipation9.8
34cervicitis9.8
35syringomyelia9.8
36urethral diverticulum9.8
37meningitis9.8
38annular pancreas9.8
39arachnoid cysts9.8
40diabetic embryopathy9.8
41myelocystocele9.8
42lobar holoprosencephaly9.8
43cervical spina bifida aperta9.8FUZ, VANGL1
44cervicothoracic spina bifida aperta9.8FUZ, VANGL1
45alagille syndrome9.7
46pseudohermaphroditism9.7
47open iniencephaly9.7FUZ, VANGL1
48closed iniencephaly9.7FUZ, VANGL1
49neurodermatitis9.5CYP26A1, RARA
50leukemia, acute myeloid9.4MNX1, RARA, 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:

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

UMLS symptoms related to Caudal Regression Syndrome:


headache, back pain

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

Anatomical Context for Caudal Regression Syndrome

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MalaCards organs/tissues related to Caudal Regression Syndrome:

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

Animal Models for Caudal Regression Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Caudal Regression Syndrome:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1FUZ, RARA, VANGL1
2MP:00053718.8CYP26A1, FUZ, RARA, VANGL1
3MP:00053818.6CYP26A1, FUZ, MNX1, RARA
4MP:00053698.3FUZ, MNX1, RARA, WT1
5MP:00036318.2CYP26A1, FUZ, MNX1, RARA, VANGL1
6MP:00053888.1FUZ, MNX1, RARA, VANGL1, WT1
7MP:00053808.1CYP26A1, FUZ, RARA, VANGL1, WT1
8MP:00028737.9CYP26A1, MNX1, RARA, VANGL1, WT1
9MP:00053847.3CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
10MP:00107687.1CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
11MP:00053787.0CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
12MP:00053856.8CYP26A1, 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 85)
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
Recognition of caudal regression syndrome. (19363325)
2009
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
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. (18358295)
2008
16
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. (19099562)
2008
17
Caudal regression syndrome. (18536840)
2008
18
Pre-natal diagnosis of caudal regression syndrome. (17686358)
2007
19
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. (16463413)
2006
20
HLXB9 homeobox gene and caudal regression syndrome. (16498628)
2006
21
Caudal regression syndrome--case report and review of literature. (15977017)
2005
22
Anesthesia in caudal regression syndrome. (15675942)
2005
23
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141)
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:

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 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:00018439.9FUZ, RARA
2male gonad developmentGO:00085849.5RARA, WT1
3negative regulation of translationGO:00171489.4RARA, WT1
4ureteric bud developmentGO:00016579.3RARA, WT1
5germ cell developmentGO:00072819.1RARA, WT1
6regulation of transcription, DNA-templatedGO:00063558.3MNX1, RARA, WT1

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:00019729.3CYP26A1, RARA
2transcription regulatory region DNA bindingGO:00442129.0RARA, 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