SDAM
MCID: CDL003
MIFTS: 50

Caudal Regression Syndrome (SDAM) malady

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

Aliases & Classifications for Caudal Regression Syndrome

About this section
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 68
Rudd-Klimek Syndrome 48

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

About this section
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 back pain, back pain and headache. 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, bone and kidney, and related mouse phenotypes are muscle and limbs/digits/tail.

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

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.

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

About this section

Diseases related to Caudal Regression Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1myelocystocele29.4FUZ, VANGL1
2sacral agenesis with vertebral anomalies12.3
3familial caudal dysgenesis12.2
4currarino triad11.7
5currarino syndrome11.3
6holoprosencephaly caudal dysgenesis11.0
7spranger schinzel myers syndrome10.9
8sirenomelia10.0
9hereditary acrokeratotic poikiloderma, weary type10.0FUZ, VANGL1
10posterior meningocele9.9FUZ, VANGL1
11pericardial and diaphragmatic defect9.9FUZ, VANGL1
12hereditary thrombocytopenia with normal platelets9.9FUZ, VANGL1
13thoracolumbosacral spina bifida aperta9.9FUZ, VANGL1
14solar retinopathy9.9CYP26A1, RARA
15lumbosacral spina bifida aperta9.9FUZ, VANGL1
16cervical spina bifida aperta9.9FUZ, VANGL1
17neurogenic bladder9.9
18meningocele9.9
19holoprosencephaly9.9
20mycophenolate mofetil embryopathy9.9FUZ, VANGL1
21complication in hemodialysis9.9FUZ, VANGL1
22intermediate maple syrup urine disease9.9FUZ, VANGL1
2346,xx disorder of sex development-anorectal anomalies syndrome9.8FUZ, VANGL1
24alobar holoprosencephaly9.8
25glycogen storage disease due to liver phosphorylase kinase deficiency9.8FUZ, VANGL1
26epidemic pleurodynia9.8MNX1, VANGL1
27pseudohermaphroditism9.8
28axial mesodermal dysplasia spectrum9.7
29williams-beuren syndrome9.7
30pierre robin syndrome9.7
31lipoma9.7
32diastematomyelia9.7
33juvenile glaucoma9.7
34arachnoiditis9.7
35urethritis9.7
36biliary atresia9.7
37spinal cord lipoma9.7
38constipation9.7
39cervicitis9.7
40syringomyelia9.7
41urethral diverticulum9.7
42meningitis9.7
43arachnoid cysts9.7
44lobar holoprosencephaly9.7
45alagille syndrome9.6
46hmg-coa synthase-2 deficiency9.6CYP26A1, FUZ, MNX1, VANGL1
47neural tube defects9.2CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1

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



Diseases related to caudal regression syndrome

Symptoms & Phenotypes for Caudal Regression Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

600145

Clinical features from OMIM:

600145

Human phenotypes related to Caudal Regression Syndrome:

 54 64 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ambiguous genitalia64 54 Very frequent (99-80%) HP:0000062
2 abnormality of the urinary system54 Very frequent (99-80%)
3 abnormality of the cardiovascular system54 Frequent (79-30%)
4 anal atresia64 54 Very frequent (99-80%) HP:0002023
5 spina bifida54 Frequent (79-30%)
6 tracheoesophageal fistula54 Frequent (79-30%)
7 aplasia/hypoplasia of the radius54 Frequent (79-30%)
8 renal hypoplasia/aplasia54 Very frequent (99-80%)
9 sirenomelia54 Very frequent (99-80%)
10 cryptorchidism64 54 Occasional (29-5%) HP:0000028
11 abnormality of the ureter54 Frequent (79-30%)
12 ureteral duplication64 54 Frequent (79-30%) HP:0000073
13 vesicoureteral reflux64 54 Frequent (79-30%) HP:0000076
14 renal insufficiency64 54 Occasional (29-5%) HP:0000083
15 ectopic kidney64 54 Frequent (79-30%) HP:0000086
16 renal agenesis64 54 Frequent (79-30%) HP:0000104
17 oral cleft64 54 Occasional (29-5%) HP:0000202
18 hypertension64 54 Occasional (29-5%) HP:0000822
19 missing ribs64 54 Occasional (29-5%) HP:0000921
20 reduced tendon reflexes64 54 Frequent (79-30%) HP:0001315
21 joint stiffness64 54 Frequent (79-30%) HP:0001387
22 talipes equinovarus64 54 Frequent (79-30%) HP:0001762
23 pulmonary hypoplasia64 54 Occasional (29-5%) HP:0002089
24 arrhinencephaly64 54 Occasional (29-5%) HP:0002139
25 arnold-chiari malformation64 54 Occasional (29-5%) HP:0002308
26 malformation of the heart and great vessels54 Frequent (79-30%)
27 bowel incontinence64 54 Very frequent (99-80%) HP:0002607
28 abnormality of pelvic girdle bone morphology54 Very frequent (99-80%)
29 scoliosis64 54 Frequent (79-30%) HP:0002650
30 decreased muscle mass64 54 Very frequent (99-80%) HP:0003199
31 abnormal vertebral segmentation and fusion64 54 Very frequent (99-80%) HP:0005640
32 hypoplastic vertebral bodies64 54 Very frequent (99-80%) HP:0008479
33 aplasia/hypoplasia of the sacrum64 54 Very frequent (99-80%) HP:0008517
34 maternal diabetes64 54 Very frequent (99-80%) HP:0009800
35 abnormality of the wing of the ilium64 54 Very frequent (99-80%) HP:0011867
36 impulsivity64 54 Very frequent (99-80%) HP:0100710
37 neurogenic bladder64 HP:0000011
38 meningitis64 HP:0001287
39 constipation64 HP:0002019
40 headache64 HP:0002315
41 back pain64 HP:0003418
42 rectal abscess64 HP:0005224
43 anterior sacral meningocele64 HP:0007293
44 sacral lipoma64 HP:0012033
45 abnormality of cardiovascular system morphology64 HP:0030680

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 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2FUZ, MNX1, RARA, WT1
2MP:00053719.1CYP26A1, FUZ, RARA, VANGL1
3MP:00053819.0CYP26A1, FUZ, MNX1, RARA
4MP:00053888.7FUZ, MNX1, RARA, VANGL1, WT1
5MP:00036318.5CYP26A1, FUZ, MNX1, RARA, VANGL1
6MP:00053808.5CYP26A1, FUZ, RARA, VANGL1, WT1
7MP:00028738.3CYP26A1, MNX1, RARA, VANGL1, WT1
8MP:00053858.0CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
9MP:00053848.0CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
10MP:00053788.0CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
11MP:00107687.9CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
12MP:00053907.7CYP26A1, FUZ, MNX1, RARA, VANGL1

Drugs & Therapeutics for Caudal Regression Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Caudal Regression Syndrome

Genetic Tests for Caudal Regression Syndrome

About this section

Genetic tests related to Caudal Regression Syndrome:

id Genetic test Affiliating Genes
1 Sacral Defect with Anterior Meningocele27
2 Caudal Regression Syndrome27
3 Anterior Sacral Meningocele27
4 Caudal Dysgenesis Syndrome24 VANGL1

Anatomical Context for Caudal Regression Syndrome

About this section

MalaCards organs/tissues related to Caudal Regression Syndrome:

36
Spinal cord, Bone, Kidney, Heart, Pancreas, Colon

Publications for Caudal Regression Syndrome

About this section

Articles related to Caudal Regression Syndrome:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome. (28124993)
2017
2
Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly. (28439323)
2017
3
Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients. (27833778)
2016
4
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
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
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia and horse-shoe kidney. (26482981)
2015
8
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. (26239763)
2015
9
High abrupt cord termination: a hallmark of caudal regression syndrome. (24473424)
2014
10
A case of caudal regression syndrome: walking or sitting? (25400859)
2014
11
Sirenomelia and severe caudal regression syndrome. (25551110)
2014
12
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. (23652529)
2013
13
Caudal regression syndrome. (23445152)
2013
14
A rare congenital malformation: caudal regression syndrome. (23504067)
2013
15
Conjoined legs: Sirenomelia or caudal regression syndrome? (23960288)
2013
16
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. (24083063)
2013
17
Scoliotic deformity and asymptomatic cervical syrinx in a 9 year old with caudal regression syndrome. (23560005)
2012
18
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. (22526445)
2012
19
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. (22761628)
2012
20
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. (22995555)
2012
21
Unusual coexistence of caudal duplication and caudal regression syndromes. (21238681)
2011
22
Teaching NeuroImages: caudal regression syndrome. (22170950)
2011
23
Juvenile glaucoma in a child with caudal regression syndrome. (20809909)
2011
24
Prenatal diagnosis of caudal regression syndrome without maternal diabetes mellitus. (24591990)
2011
25
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. (21509087)
2010
26
Caudal regression syndrome in one of dizygotic twins. (21043567)
2010
27
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. (22953253)
2010
28
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. (19995255)
2009
29
Recognition of caudal regression syndrome. (19363325)
2009
30
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. (19198864)
2009
31
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. (19536863)
2009
32
Caudal regression syndrome. (18536840)
2008
33
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. (19099562)
2008
34
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. (18358295)
2008
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 associated with the white matter lesions and chromosome 18p11.2 deletion. (16949239)
2007
37
Pre-natal diagnosis of caudal regression syndrome. (17686358)
2007
38
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. (17021725)
2006
39
HLXB9 homeobox gene and caudal regression syndrome. (16498628)
2006
40
Caudal regression syndrome with sacral rib: MRI features. (17050368)
2006
41
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. (16463413)
2006
42
Caudal regression syndrome--case report and review of literature. (15977017)
2005
43
Anesthesia in caudal regression syndrome. (15675942)
2005
44
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. (15791681)
2005
45
Implication of Wt1 in the pathogenesis of nephrogenic failure in a mouse model of retinoic acid-induced caudal regression syndrome. (15855632)
2005
46
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141)
2005
47
Case 66: caudal regression syndrome in the fetus of a diabetic mother. (14695398)
2004
48
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. (14694401)
2004
49
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. (15266776)
2004
50
Perinatal identification of caudal regression syndrome and alobar holoprosencephaly in pregnancies with poor maternal metabolic control. (15658628)
2004

Variations for Caudal Regression Syndrome

About this section

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

About this section
Search GEO for disease gene expression data for Caudal Regression Syndrome.

Pathways for genes affiliated with Caudal Regression Syndrome

About this section

Pathways related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1CYP26A1, RARA
2
Show member pathways
9.1CYP26A1, RARA
39.1CYP26A1, RARA
49.1CYP26A1, RARA

GO Terms for genes affiliated with Caudal Regression Syndrome

About this section

Biological processes related to Caudal Regression Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1germ cell developmentGO:000728110.0RARA, WT1
2male gonad developmentGO:000858410.0RARA, WT1
3neural tube closureGO:00018439.9FUZ, RARA
4negative regulation of cell proliferationGO:00082859.4FUZ, RARA, WT1
5ureteric bud developmentGO:00016579.3RARA, WT1

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:00019729.8CYP26A1, RARA
2sequence-specific DNA bindingGO:00435658.8MNX1, RARA, WT1

Sources for Caudal Regression Syndrome

About this section
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