MCID: CDL003
MIFTS: 50

Caudal Regression Syndrome

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

Aliases & Classifications for Caudal Regression Syndrome

MalaCards integrated aliases for Caudal Regression Syndrome:

Name: Caudal Regression Syndrome 54 50 25 29 13
Sacral Defect with Anterior Meningocele 50 24 25 71 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 71
Sacral Defect and Anterior Sacral Meningocele 69
Anterior Sacral Meningocele 29
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
present at birth
intrafamilial variability
considered to be a manifestation of the caudal regression syndrome
phenotypic overlap with currarino syndrome


HPO:

32
caudal regression syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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 symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related. (600145)

MalaCards based summary : Caudal Regression Syndrome, also known as sacral defect with anterior meningocele, is related to myelocystocele and neural tube defects, and has symptoms including scoliosis, ambiguous genitalia and pulmonary hypoplasia. An important gene associated with Caudal Regression Syndrome is VANGL1 (VANGL Planar Cell Polarity Protein 1), and among its related pathways/superpathways are Signaling by Retinoic Acid and Vitamin A and Carotenoid Metabolism. Affiliated tissues include spinal cord, bone and kidney, and related phenotypes are cardiovascular system and cellular

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 : 71 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.

Wikipedia : 72 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 43)
id Related Disease Score Top Affiliating Genes
1 myelocystocele 29.0 FUZ VANGL1
2 neural tube defects 27.9 CYP26A1 FUZ MNX1 VANGL1
3 sacral agenesis with vertebral anomalies 12.3
4 familial caudal dysgenesis 12.2
5 currarino syndrome 11.8
6 holoprosencephaly caudal dysgenesis 11.0
7 spranger schinzel myers syndrome 10.9
8 sirenomelia 10.0
9 meningocele 9.9
10 neurogenic bladder 9.9
11 holoprosencephaly 9.9
12 alobar holoprosencephaly 9.8
13 pseudohermaphroditism 9.8
14 hand, foot and mouth disease 9.8 MNX1 VANGL1
15 thoracolumbosacral spina bifida cystica 9.7 FUZ VANGL1
16 axial mesodermal dysplasia spectrum 9.7
17 upper thoracic spina bifida aperta 9.7 FUZ VANGL1
18 occipital encephalocele 9.7 FUZ VANGL1
19 cranial meningocele 9.7 FUZ VANGL1
20 constipation 9.7
21 cervicitis 9.7
22 syringomyelia 9.7
23 williams-beuren syndrome 9.7
24 urethral diverticulum 9.7
25 pierre robin syndrome 9.7
26 meningitis 9.7
27 diastematomyelia 9.7
28 arachnoid cysts 9.7
29 omphalocele 9.7
30 juvenile glaucoma 9.7
31 arachnoiditis 9.7
32 urethritis 9.7
33 lobar holoprosencephaly 9.7
34 biliary atresia 9.7
35 spinal cord lipoma 9.7
36 phakomatosis pigmentokeratotica 9.6 FUZ VANGL1
37 solar retinopathy 9.6 CYP26A1 RARA
38 posterior meningocele 9.6 FUZ VANGL1
39 closed iniencephaly 9.6 FUZ VANGL1
40 spina bifida aperta 9.6 FUZ VANGL1
41 total spina bifida aperta 9.5 FUZ VANGL1
42 intraocular medulloepithelioma 9.5 FUZ VANGL1
43 intermediate maple syrup urine disease 9.4 FUZ VANGL1

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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
headache
back pain
meningocele, anterior sacral
cysts tend to enlarge with age
lipoma, anterior sacral
more
Genitourinary- Bladder:
urinary retention due to mass effect of meningocele
increased urinary frequency
neurogenic bladder

Prenatal Manifestations- Maternal:
prolonged labor
obstructed labor

Abdomen- Gastroin testinal:
constipation due to mass effect of meningocele

Skeletal- Spine:
anterior sacral hemidefect
'scimitar' sign on x-ray
hemisacrum
sacral agenesis
coccyx defects
more

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 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 ambiguous genitalia 56 32 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000062
3 pulmonary hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002089
4 ureteral duplication 56 32 frequent (33%) Frequent (79-30%) HP:0000073
5 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
6 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
7 talipes equinovarus 56 32 frequent (33%) Frequent (79-30%) HP:0001762
8 vesicoureteral reflux 56 32 frequent (33%) Frequent (79-30%) HP:0000076
9 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
10 renal agenesis 56 32 frequent (33%) Frequent (79-30%) HP:0000104
11 joint stiffness 56 32 frequent (33%) Frequent (79-30%) HP:0001387
12 hypoplastic vertebral bodies 56 32 hallmark (90%) Very frequent (99-80%) HP:0008479
13 impulsivity 56 32 hallmark (90%) Very frequent (99-80%) HP:0100710
14 decreased muscle mass 56 32 hallmark (90%) Very frequent (99-80%) HP:0003199
15 ectopic kidney 56 32 frequent (33%) Frequent (79-30%) HP:0000086
16 anal atresia 56 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002023
17 missing ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000921
18 arnold-chiari malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002308
19 arrhinencephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002139
20 oral cleft 56 32 occasional (7.5%) Occasional (29-5%) HP:0000202
21 bowel incontinence 56 32 hallmark (90%) Very frequent (99-80%) HP:0002607
22 reduced tendon reflexes 56 32 frequent (33%) Frequent (79-30%) HP:0001315
23 abnormal vertebral segmentation and fusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0005640
24 maternal diabetes 56 32 hallmark (90%) Very frequent (99-80%) HP:0009800
25 aplasia/hypoplasia of the sacrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0008517
26 abnormality of the wing of the ilium 56 32 hallmark (90%) Very frequent (99-80%) HP:0011867
27 headache 32 HP:0002315
28 constipation 32 HP:0002019
29 neurogenic bladder 32 HP:0000011
30 back pain 32 HP:0003418
31 spina bifida 56 Frequent (79-30%)
32 tracheoesophageal fistula 56 Frequent (79-30%)
33 anterior sacral meningocele 32 HP:0007293
34 meningitis 32 HP:0001287
35 renal hypoplasia/aplasia 56 Very frequent (99-80%)
36 abnormality of the cardiovascular system 56 Frequent (79-30%)
37 malformation of the heart and great vessels 56 Frequent (79-30%)
38 abnormality of pelvic girdle bone morphology 56 Very frequent (99-80%)
39 abnormality of the ureter 56 Frequent (79-30%)
40 abnormality of the urinary system 56 Very frequent (99-80%)
41 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
42 aplasia/hypoplasia of the radius 56 Frequent (79-30%)
43 sirenomelia 56 Very frequent (99-80%)
44 sacral lipoma 32 HP:0012033
45 rectal abscess 32 HP:0005224

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 10.05 CYP26A1 FUZ MNX1 RARA RYR1 VANGL1
2 cellular MP:0005384 10.04 MNX1 RARA RYR1 VANGL1 WT1 CYP26A1
3 growth/size/body region MP:0005378 9.95 CYP26A1 FUZ MNX1 RARA RYR1 VANGL1
4 mortality/aging MP:0010768 9.87 CYP26A1 FUZ MNX1 RARA RYR1 VANGL1
5 digestive/alimentary MP:0005381 9.85 CYP26A1 FUZ MNX1 RARA RYR1
6 embryo MP:0005380 9.83 FUZ RARA VANGL1 WT1 CYP26A1
7 craniofacial MP:0005382 9.78 CYP26A1 FUZ RARA RYR1
8 limbs/digits/tail MP:0005371 9.77 CYP26A1 FUZ RARA RYR1 VANGL1
9 muscle MP:0005369 9.65 FUZ MNX1 RARA RYR1 WT1
10 normal MP:0002873 9.55 VANGL1 WT1 CYP26A1 MNX1 RARA
11 respiratory system MP:0005388 9.43 FUZ MNX1 RARA RYR1 VANGL1 WT1
12 skeleton MP:0005390 9.1 CYP26A1 FUZ MNX1 RARA RYR1 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 Anterior Sacral Meningocele 29
3 Caudal Regression Syndrome 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, Pancreas, Colon

Publications for Caudal Regression Syndrome

Articles related to Caudal Regression Syndrome:

(show top 50) (show all 93)
id Title Authors Year
1
Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly. ( 28439323 )
2017
2
Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother. ( 28904658 )
2017
3
Caudal Regression Syndrome with Pressure Ulcers of the Foot: A Case Report. ( 28892975 )
2017
4
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review. ( 28875772 )
2017
5
Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome. ( 28124993 )
2017
6
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
7
Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients. ( 27833778 )
2016
8
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. ( 25845272 )
2015
9
In utero diagnosis of caudal regression syndrome. ( 27408660 )
2015
10
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia and horse-shoe kidney. ( 26482981 )
2015
11
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. ( 26239763 )
2015
12
High abrupt cord termination: a hallmark of caudal regression syndrome. ( 24473424 )
2014
13
Sirenomelia and severe caudal regression syndrome. ( 25551110 )
2014
14
A case of caudal regression syndrome: walking or sitting? ( 25400859 )
2014
15
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. ( 24083063 )
2013
16
Conjoined legs: Sirenomelia or caudal regression syndrome? ( 23960288 )
2013
17
A rare congenital malformation: caudal regression syndrome. ( 23504067 )
2013
18
Caudal regression syndrome. ( 23445152 )
2013
19
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. ( 23652529 )
2013
20
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. ( 22761628 )
2012
21
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. ( 22526445 )
2012
22
Scoliotic deformity and asymptomatic cervical syrinx in a 9 year old with caudal regression syndrome. ( 23560005 )
2012
23
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. ( 22995555 )
2012
24
Juvenile glaucoma in a child with caudal regression syndrome. ( 20809909 )
2011
25
Teaching NeuroImages: caudal regression syndrome. ( 22170950 )
2011
26
Prenatal diagnosis of caudal regression syndrome without maternal diabetes mellitus. ( 24591990 )
2011
27
Unusual coexistence of caudal duplication and caudal regression syndromes. ( 21238681 )
2011
28
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. ( 21509087 )
2010
29
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. ( 22953253 )
2010
30
Caudal regression syndrome in one of dizygotic twins. ( 21043567 )
2010
31
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. ( 19536863 )
2009
32
Recognition of caudal regression syndrome. ( 19363325 )
2009
33
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. ( 19198864 )
2009
34
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. ( 19995255 )
2009
35
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. ( 19099562 )
2008
36
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. ( 18358295 )
2008
37
Caudal regression syndrome. ( 18536840 )
2008
38
Pre-natal diagnosis of caudal regression syndrome. ( 17686358 )
2007
39
Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome. ( 17968797 )
2007
40
Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion. ( 16949239 )
2007
41
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. ( 16463413 )
2006
42
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. ( 17021725 )
2006
43
HLXB9 homeobox gene and caudal regression syndrome. ( 16498628 )
2006
44
Caudal regression syndrome with sacral rib: MRI features. ( 17050368 )
2006
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
Caudal regression syndrome--case report and review of literature. ( 15977017 )
2005
48
Anesthesia in caudal regression syndrome. ( 15675942 )
2005
49
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. ( 15791681 )
2005
50
Case 66: caudal regression syndrome in the fetus of a diabetic mother. ( 14695398 )
2004

Variations for Caudal Regression Syndrome

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

71
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
2 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192177 GRCh37 Chromosome 19, 38986923: 38986923

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
Show member pathways
10.98 CYP26A1 RARA
2 10.6 CYP26A1 RARA
3 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 retinoic acid binding GO:0001972 8.62 CYP26A1 RARA

Sources for Caudal Regression Syndrome

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10 dbSNP
11 DGIdb
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34 ICD10 via Orphanet
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43 MESH via Orphanet
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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