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

Aliases & Descriptions for Caudal Regression Syndrome:

Name: Caudal Regression Syndrome 54 50 25 29 13
Sacral Defect with Anterior Meningocele 54 50 24 25 66 29
Caudal Dysgenesis Syndrome 50 24 25 69
Caudal Regression Sequence 50 25 56
Sacral Agenesis Syndrome 50 56 69
Sacral Regression Syndrome 50 56
Caudal Dysplasia 50 56
Sacral Agenesis 50 25
Sirenomelia 56 69
Sdam 50 66
Sacral Defect and Anterior Sacral Meningocele 69
Familial Caudal Dysgenesis 50
Caudal Dysplasia Sequence 25
Rudd-Klimek Syndrome 50
Rudd Klimek Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
sirenomelia
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;
caudal regression sequence
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

HPO:

32
caudal regression syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 600145
ICD10 via Orphanet 34 Q87.2 Q76.0
MESH via Orphanet 43 C538595
UMLS via Orphanet 70 C0037205 C0300948 C0344490

Summaries for Caudal Regression Syndrome

OMIM : 54 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 joint stiffness, hypertension and bowel incontinence. An important gene associated with Caudal Regression Syndrome is VANGL1 (VANGL Planar Cell Polarity Protein 1), and among its related pathways/superpathways are Adipogenesis and Signaling by Retinoic Acid. Affiliated tissues include spinal cord, bone and kidney, and related phenotypes are cardiovascular system and cellular

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 : 50 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 : 66 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

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

(show all 47)
id Related Disease Score Top Affiliating Genes
1 myelocystocele 29.4 FUZ VANGL1
2 sacral agenesis with vertebral anomalies 12.3
3 familial caudal dysgenesis 12.2
4 currarino triad 11.7
5 currarino syndrome 11.3
6 holoprosencephaly caudal dysgenesis 11.0
7 spranger schinzel myers syndrome 10.9
8 sirenomelia 10.0
9 hereditary acrokeratotic poikiloderma, weary type 10.0 FUZ VANGL1
10 posterior meningocele 9.9 FUZ VANGL1
11 pericardial and diaphragmatic defect 9.9 FUZ VANGL1
12 hereditary thrombocytopenia with normal platelets 9.9 FUZ VANGL1
13 thoracolumbosacral spina bifida aperta 9.9 FUZ VANGL1
14 lumbosacral spina bifida aperta 9.9 FUZ VANGL1
15 solar retinopathy 9.9 CYP26A1 RARA
16 cervical spina bifida aperta 9.9 FUZ VANGL1
17 neurogenic bladder 9.9
18 meningocele 9.9
19 holoprosencephaly 9.9
20 mycophenolate mofetil embryopathy 9.9 FUZ VANGL1
21 complication in hemodialysis 9.9 FUZ VANGL1
22 intermediate maple syrup urine disease 9.9 FUZ VANGL1
23 46,xx disorder of sex development-anorectal anomalies syndrome 9.8 FUZ VANGL1
24 alobar holoprosencephaly 9.8
25 glycogen storage disease due to liver phosphorylase kinase deficiency 9.8 FUZ VANGL1
26 epidemic pleurodynia 9.8 MNX1 VANGL1
27 pseudohermaphroditism 9.8
28 axial mesodermal dysplasia spectrum 9.7
29 arachnoiditis 9.7
30 urethritis 9.7
31 biliary atresia 9.7
32 lobar holoprosencephaly 9.7
33 spinal cord lipoma 9.7
34 constipation 9.7
35 cervicitis 9.7
36 williams-beuren syndrome 9.7
37 syringomyelia 9.7
38 pierre robin syndrome 9.7
39 urethral diverticulum 9.7
40 lipoma 9.7
41 meningitis 9.7
42 arachnoid cysts 9.7
43 diastematomyelia 9.7
44 juvenile glaucoma 9.7
45 alagille syndrome 9.6
46 hmg-coa synthase-2 deficiency 9.6 CYP26A1 FUZ MNX1 VANGL1
47 neural tube defects 9.2 CYP26A1 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

Symptoms by clinical synopsis from OMIM:

600145

Clinical features from OMIM:

600145

Human phenotypes related to Caudal Regression Syndrome:

56 32 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Frequent (79-30%) HP:0001387
2 hypertension 56 32 Occasional (29-5%) HP:0000822
3 bowel incontinence 56 32 Very frequent (99-80%) HP:0002607
4 scoliosis 56 32 Frequent (79-30%) HP:0002650
5 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
6 decreased muscle mass 56 32 Very frequent (99-80%) HP:0003199
7 ectopic kidney 56 32 Frequent (79-30%) HP:0000086
8 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
9 reduced tendon reflexes 56 32 Frequent (79-30%) HP:0001315
10 arnold-chiari malformation 56 32 Occasional (29-5%) HP:0002308
11 anal atresia 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0002023
12 vesicoureteral reflux 56 32 Frequent (79-30%) HP:0000076
13 talipes equinovarus 56 32 Frequent (79-30%) HP:0001762
14 arrhinencephaly 56 32 Occasional (29-5%) HP:0002139
15 ambiguous genitalia 56 32 Very frequent (99-80%),Occasional (29-5%) HP:0000062
16 missing ribs 56 32 Occasional (29-5%) HP:0000921
17 oral cleft 56 32 Occasional (29-5%) HP:0000202
18 ureteral duplication 56 32 Frequent (79-30%) HP:0000073
19 impulsivity 56 32 Very frequent (99-80%) HP:0100710
20 abnormal vertebral segmentation and fusion 56 32 Very frequent (99-80%) HP:0005640
21 maternal diabetes 56 32 Very frequent (99-80%) HP:0009800
22 renal agenesis 56 32 Frequent (79-30%) HP:0000104
23 pulmonary hypoplasia 56 32 Occasional (29-5%) HP:0002089
24 hypoplastic vertebral bodies 56 32 Very frequent (99-80%) HP:0008479
25 aplasia/hypoplasia of the sacrum 56 32 Very frequent (99-80%) HP:0008517
26 abnormality of the wing of the ilium 56 32 Very frequent (99-80%) HP:0011867
27 constipation 32 HP:0002019
28 headache 32 HP:0002315
29 back pain 32 HP:0003418
30 abnormality of the cardiovascular system 56 Frequent (79-30%)
31 malformation of the heart and great vessels 56 Frequent (79-30%)
32 renal hypoplasia/aplasia 56 Very frequent (99-80%)
33 spina bifida 56 Frequent (79-30%)
34 meningitis 32 HP:0001287
35 tracheoesophageal fistula 56 Frequent (79-30%)
36 abnormality of pelvic girdle bone morphology 56 Very frequent (99-80%)
37 abnormality of the ureter 56 Frequent (79-30%)
38 abnormality of the urinary system 56 Very frequent (99-80%)
39 abnormality of cardiovascular system morphology 32 HP:0030680
40 aplasia/hypoplasia of the radius 56 Frequent (79-30%)
41 sirenomelia 56 Very frequent (99-80%)
42 neurogenic bladder 32 HP:0000011
43 sacral lipoma 32 HP:0012033
44 rectal abscess 32 HP:0005224
45 anterior sacral meningocele 32 HP:0007293

UMLS symptoms related to Caudal Regression Syndrome:


back pain, headache

MGI Mouse Phenotypes related to Caudal Regression Syndrome:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.99 CYP26A1 FUZ MNX1 RARA VANGL1 WT1
2 cellular MP:0005384 9.97 CYP26A1 FUZ MNX1 RARA VANGL1 WT1
3 growth/size/body region MP:0005378 9.91 FUZ MNX1 RARA VANGL1 WT1 CYP26A1
4 embryo MP:0005380 9.85 CYP26A1 FUZ RARA VANGL1 WT1
5 mortality/aging MP:0010768 9.85 CYP26A1 FUZ MNX1 RARA VANGL1 WT1
6 digestive/alimentary MP:0005381 9.78 CYP26A1 FUZ MNX1 RARA
7 limbs/digits/tail MP:0005371 9.71 CYP26A1 FUZ RARA VANGL1
8 nervous system MP:0003631 9.65 CYP26A1 FUZ MNX1 RARA VANGL1
9 muscle MP:0005369 9.62 FUZ MNX1 RARA WT1
10 normal MP:0002873 9.55 CYP26A1 MNX1 RARA VANGL1 WT1
11 respiratory system MP:0005388 9.35 FUZ MNX1 RARA VANGL1 WT1
12 skeleton MP:0005390 9.02 CYP26A1 FUZ MNX1 RARA VANGL1

Drugs & Therapeutics for Caudal Regression Syndrome

Search Clinical Trials , NIH Clinical Center for Caudal Regression Syndrome

Genetic Tests for Caudal Regression Syndrome

Genetic tests related to Caudal Regression Syndrome:

id Genetic test Affiliating Genes
1 Sacral Defect with Anterior Meningocele 29
2 Caudal Regression Syndrome 29
3 Anterior Sacral Meningocele 29
4 Caudal Dysgenesis Syndrome 24 VANGL1

Anatomical Context for Caudal Regression Syndrome

MalaCards organs/tissues related to Caudal Regression Syndrome:

39
Spinal Cord, Bone, Kidney, Heart, Colon, Pancreas

Publications for Caudal Regression Syndrome

Articles related to Caudal Regression Syndrome:

(show top 50) (show all 90)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 VANGL1 p.Val239Ile VAR_035209 rs121918218

ClinVar genetic disease variations for Caudal Regression Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VANGL1 NM_138959.2(VANGL1): c.715G> A (p.Val239Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121918218 GRCh37 Chromosome 1, 116206792: 116206792

Expression for Caudal Regression Syndrome

Search GEO for disease gene expression data for Caudal Regression Syndrome.

Pathways for Caudal Regression Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.38 CYP26A1 RARA
2
Show member pathways
10.98 CYP26A1 RARA
3 10.6 CYP26A1 RARA
4 10.17 CYP26A1 RARA

GO Terms for Caudal Regression Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.33 FUZ RARA WT1
2 male gonad development GO:0008584 9.32 RARA WT1
3 neural tube closure GO:0001843 9.26 FUZ RARA
4 ureteric bud development GO:0001657 8.96 RARA WT1
5 germ cell development GO:0007281 8.62 RARA WT1

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.13 MNX1 RARA WT1
2 retinoic acid binding GO:0001972 8.62 CYP26A1 RARA

Sources for Caudal Regression Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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