MCID: CDL006
MIFTS: 25

Caudal Regression Sequence

Categories: Rare diseases

Aliases & Classifications for Caudal Regression Sequence

MalaCards integrated aliases for Caudal Regression Sequence:

Name: Caudal Regression Sequence 54
Sacral Agenesis 54 6
Sacral Defect with Anterior Meningocele 54
Caudal Regression Syndrome 54
Sacral Regression Syndrome 54
Sacral Agenesis Syndrome 54
Caudal Dysplasia 54

Classifications:



Summaries for Caudal Regression Sequence

NIH Rare Diseases : 54 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.

MalaCards based summary : Caudal Regression Sequence, also known as sacral agenesis, is related to sacral agenesis with vertebral anomalies and currarino syndrome. Affiliated tissues include spinal cord, kidney and brain, and related phenotypes are bowel incontinence and decreased muscle mass

Related Diseases for Caudal Regression Sequence

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 sacral agenesis with vertebral anomalies 12.7
2 currarino syndrome 12.1
3 spranger schinzel myers syndrome 11.6
4 sacral defect with anterior meningocele 11.5
5 neurogenic bladder 10.3
6 sirenomelia 10.2
7 neural tube defects 10.1
8 meningocele 10.1
9 holoprosencephaly 10.1
10 pierre robin syndrome 10.0
11 diabetes mellitus 10.0
12 alobar holoprosencephaly 10.0
13 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
14 medulloblastoma 9.9
15 anus, imperforate 9.9
16 wilms tumor 5 9.9
17 neural tube defects, folate-sensitive 9.9
18 polydactyly 9.9
19 lipomyelomeningocele 9.9
20 wilms tumor 6 9.9
21 fecal incontinence 9.9
22 scoliosis 9.9
23 klippel-feil syndrome 9.9
24 hypopituitarism 9.9
25 amniotic band syndrome 9.9
26 chromosomal triplication 9.9
27 ring chromosome 7 9.9
28 talipes equinovarus 9.9
29 tethered cord syndrome 9.9
30 neurenteric cyst 9.9
31 axial mesodermal dysplasia spectrum 9.9
32 anorectal anomalies 9.9
33 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
34 lipomatosis, multiple 9.9
35 pancreas, annular 9.9
36 renal hypodysplasia/aplasia 1 9.9
37 williams-beuren syndrome 9.9
38 diastematomyelia 9.9
39 corpus callosum, partial agenesis of, x-linked 9.9
40 preaxial hallucal polydactyly 9.9
41 maturity-onset diabetes of the young 9.9
42 caudal duplication anomaly 9.9
43 myelomeningocele 9.9
44 omphalocele 9.9
45 pleomorphic lipoma 9.9
46 juvenile glaucoma 9.9
47 biliary atresia 9.9
48 spinal cord lipoma 9.9
49 constipation 9.9
50 syringomyelia 9.9

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



Diseases related to Caudal Regression Sequence

Symptoms & Phenotypes for Caudal Regression Sequence

Human phenotypes related to Caudal Regression Sequence:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 bowel incontinence 33 hallmark (90%) HP:0002607
2 decreased muscle mass 33 hallmark (90%) HP:0003199
3 impulsivity 33 hallmark (90%) HP:0100710
4 abnormal vertebral segmentation and fusion 33 hallmark (90%) HP:0005640
5 maternal diabetes 33 hallmark (90%) HP:0009800
6 hypoplastic vertebral bodies 33 hallmark (90%) HP:0008479
7 aplasia/hypoplasia of the sacrum 33 hallmark (90%) HP:0008517
8 abnormality of the wing of the ilium 33 hallmark (90%) HP:0011867
9 scoliosis 33 frequent (33%) HP:0002650
10 joint stiffness 33 frequent (33%) HP:0001387
11 ectopic kidney 33 frequent (33%) HP:0000086
12 reduced tendon reflexes 33 frequent (33%) HP:0001315
13 talipes equinovarus 33 frequent (33%) HP:0001762
14 anal atresia 33 frequent (33%) HP:0002023
15 vesicoureteral reflux 33 frequent (33%) HP:0000076
16 ureteral duplication 33 frequent (33%) HP:0000073
17 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
18 renal agenesis 33 frequent (33%) HP:0000104
19 hypertension 33 occasional (7.5%) HP:0000822
20 renal insufficiency 33 occasional (7.5%) HP:0000083
21 cryptorchidism 33 occasional (7.5%) HP:0000028
22 arnold-chiari malformation 33 occasional (7.5%) HP:0002308
23 arrhinencephaly 33 occasional (7.5%) HP:0002139
24 ambiguous genitalia 33 occasional (7.5%) HP:0000062
25 missing ribs 33 occasional (7.5%) HP:0000921
26 oral cleft 33 occasional (7.5%) HP:0000202
27 pulmonary hypoplasia 33 occasional (7.5%) HP:0002089

Drugs & Therapeutics for Caudal Regression Sequence

Search Clinical Trials , NIH Clinical Center for Caudal Regression Sequence

Genetic Tests for Caudal Regression Sequence

Anatomical Context for Caudal Regression Sequence

MalaCards organs/tissues related to Caudal Regression Sequence:

42
Spinal Cord, Kidney, Brain, Pituitary, Bone, Pancreas

Publications for Caudal Regression Sequence

Articles related to Caudal Regression Sequence:

(show top 50) (show all 121)
# Title Authors Year
1
Sacral agenesis and fecal incontinence: how to increase the index of suspicion. ( 30392128 )
2019
2
Elongated conus medullaris, sacral agenesis and scoliosis- a case report of a patient with trisomy 19q and monosomy 7q. ( 30641238 )
2019
3
Expansion Thoracoplasty as a Life-Saving Procedure in an Adolescent With Severe Spinal Deformity and Sacral Agenesis. ( 30587312 )
2019
4
Medulloblastoma in association with sacral agenesis; a case report. ( 29404676 )
2018
5
Symptomatic lower urinary tract dysfunction in sacral agenesis: Potentially high risk? ( 29343914 )
2018
6
How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications. ( 29377253 )
2018
7
Sacral agenesis combined with spinopelvic dissociation: A case report and literature review. ( 30212942 )
2018
8
Klippel-Feil Syndrome Associated with Sacral Agenesis, Low Lying Cord, Lipomyelomeningocele and Split Cord Malformation Presenting with Tethered Cord Syndrome: Pentads Neural Tube Defects Spread along Whole Spinal Axis. ( 28553382 )
2017
9
Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis. ( 28476907 )
2017
10
Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis. ( 27794580 )
2017
11
Chilli Sign: Pathognomonic Sign for Ruling Out Sacral Agenesis on Foetal MRI. ( 29207808 )
2017
12
Sacral agenesis and neurogenic bladder: Long-term outcomes of bladder and kidney function. ( 26897325 )
2016
13
Multiple spinal anomalies concurrent with sacral agenesis. ( 26656169 )
2016
14
Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes. ( 26872465 )
2016
15
Novel Use of Pudendal Neuromodulation in a Pediatric Patient With Caudal Regression and Partial Sacral Agenesis for Refractory Bowel Bladder Dysfunction. ( 27034090 )
2016
16
Sacral nerve stimulation lead implantation in partial sacral agenesis using intra-operative computerized tomography. ( 27376913 )
2016
17
Sacral agenesis: a pilot whole exome sequencing and copy number study. ( 28007035 )
2016
18
Amniotic band syndrome with sacral agenesis and umbilical cord entrapment: A case report emphasizing the value of evaluation of umbilical cord. ( 25926929 )
2015
19
A rare case of thoracic myelocystocele associated with type 1 split cord malformation with low lying tethered cord, dorsal syrinx and sacral agenesis: Pentad finding. ( 25552859 )
2015
20
Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature. ( 26266174 )
2015
21
Bilateral vascularized rib grafts to promote spinopelvic fixation in patients with sacral agenesis and spinopelvic dissociation: a new surgical technique. ( 26456853 )
2015
22
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. ( 24253444 )
2014
23
A tail of sacral agenesis: delayed presentation of meningocele in sacral agenesis. ( 22565805 )
2013
24
A rare case of giant terminal lipomyelocystocele with partial sacral agenesis. ( 23772247 )
2013
25
Laparoscopic undiversion in a child with sacral agenesis into augmentation cystoplasty. ( 24018085 )
2013
26
Sacral agenesis with club shaped conus. ( 24470830 )
2013
27
Urological manifestations of sacral agenesis. ( 21398186 )
2012
28
Patient report: sacral agenesis with hypopituitarism. ( 21648303 )
2011
29
Neurological presentations, imaging, and associated anomalies in 50 patients with sacral agenesis. ( 20881552 )
2010
30
Laparoscopy-assisted ileal conduit in sacral agenesis. ( 18373472 )
2008
31
Craniocervical instability in an infant with partial sacral agenesis. ( 17508125 )
2007
32
Outcome study of children, adolescents, and adults with sacral agenesis. ( 17717471 )
2007
33
Caudal regression sequence: vascular origin? ( 16801960 )
2006
34
[Urological outcome of patients with sacral agenesis: 20 years follow-up]. ( 16933487 )
2006
35
Presacral meningocele associated with hereditary sacral agenesis and treated surgically: evaluation in three members of the same family. ( 16145509 )
2005
36
Unilateral pulmonary atresia with total sacral agenesis and other congenital defects. ( 15127768 )
2004
37
Rectal manometry in patients with isolated sacral agenesis. ( 12827005 )
2003
38
Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele. ( 12116275 )
2002
39
Management of hooding of vagina with adduction contracture of thighs in association with sacral agenesis. ( 11965012 )
2002
40
Lumbo-sacral agenesis. Clinical analysis and treatment relating to 4 observations. ( 11594169 )
2001
41
Autosomal dominant sacral agenesis: Currarino syndrome. ( 10922380 )
2000
42
Ring chromosome 7 and sacral agenesis. ( 10982483 )
2000
43
Presentation and outcome of sacral agenesis: 20 years' outcome. ( 11034461 )
2000
44
Percutaneous management of stones in a patient with sacral agenesis. ( 11113761 )
2000
45
A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. ( 10204846 )
1999
46
Presentation and outcome of sacral agenesis: 20 years' experience. ( 10619278 )
1999
47
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. ( 9600232 )
1998
48
An unusual presentation of sacral agenesis in a newborn baby. ( 9624796 )
1998
49
Sacral agenesis in siblings. ( 9701743 )
1998
50
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. ( 9843207 )
1998

Variations for Caudal Regression Sequence

Expression for Caudal Regression Sequence

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

Pathways for Caudal Regression Sequence

GO Terms for Caudal Regression Sequence

Sources for Caudal Regression Sequence

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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