MCID: CDL006
MIFTS: 20

Caudal Regression Sequence

Categories: Rare diseases

Aliases & Classifications for Caudal Regression Sequence

MalaCards integrated aliases for Caudal Regression Sequence:

Name: Caudal Regression Sequence 53
Sacral Defect with Anterior Meningocele 53
Caudal Regression Syndrome 53
Sacral Regression Syndrome 53
Sacral Agenesis Syndrome 53
Caudal Dysplasia 53
Sacral Agenesis 53

Classifications:



Summaries for Caudal Regression Sequence

NIH Rare Diseases : 53 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 defect with anterior meningocele, is related to sacral agenesis with vertebral anomalies and sacral defect with anterior meningocele. Affiliated tissues include spinal cord and kidney, 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 143)
# Related Disease Score Top Affiliating Genes
1 sacral agenesis with vertebral anomalies 12.9
2 sacral defect with anterior meningocele 12.1
3 acute cystitis 10.3
4 renal hypodysplasia/aplasia 1 10.2
5 neurogenic bladder 10.2
6 neural tube defects 10.2
7 anus, imperforate 10.2
8 rare surgical neurologic disease 10.2
9 hydrocephalus 10.1
10 congenital hydrocephalus 10.1
11 posterior meningocele 10.1
12 anal fistula 10.1
13 meningocele 10.1
14 constipation 10.1
15 lipomatosis, multiple 10.1
16 diastematomyelia 10.1
17 preaxial hallucal polydactyly 10.1
18 pleomorphic lipoma 10.1
19 hyperglycemia 10.1
20 holoprosencephaly 10.1
21 split spinal cord malformation 10.1
22 rectal duplication 10.1
23 vacterl association 10.0
24 microcephaly 10.0
25 tethered cord syndrome 10.0
26 anorectal anomalies 10.0
27 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
28 currarino syndrome 10.0
29 syringomyelia, noncommunicating isolated 10.0
30 pierre robin syndrome 10.0
31 wilms tumor 5 10.0
32 polydactyly 10.0
33 intraocular pressure quantitative trait locus 10.0
34 scoliosis 10.0
35 omphalocele 10.0
36 syringomyelia 10.0
37 paraplegia 10.0
38 talipes equinovarus 10.0
39 myelocystocele 10.0
40 alobar holoprosencephaly 10.0
41 klippel-feil syndrome 1, autosomal dominant 9.9
42 coloboma of macula 9.9
43 medulloblastoma 9.9
44 hemifacial microsomia 9.9
45 nephrolithiasis, calcium oxalate 9.9
46 vater/vacterl association 9.9
47 enterocolitis 9.9
48 neu-laxova syndrome 1 9.9
49 tibial hemimelia 9.9
50 lipomyelomeningocele 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:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 bowel incontinence 32 hallmark (90%) HP:0002607
2 decreased muscle mass 32 hallmark (90%) HP:0003199
3 impulsivity 32 hallmark (90%) HP:0100710
4 abnormal vertebral segmentation and fusion 32 hallmark (90%) HP:0005640
5 maternal diabetes 32 hallmark (90%) HP:0009800
6 hypoplastic vertebral bodies 32 hallmark (90%) HP:0008479
7 aplasia/hypoplasia of the sacrum 32 hallmark (90%) HP:0008517
8 abnormality of the wing of the ilium 32 hallmark (90%) HP:0011867
9 scoliosis 32 frequent (33%) HP:0002650
10 joint stiffness 32 frequent (33%) HP:0001387
11 ectopic kidney 32 frequent (33%) HP:0000086
12 reduced tendon reflexes 32 frequent (33%) HP:0001315
13 talipes equinovarus 32 frequent (33%) HP:0001762
14 vesicoureteral reflux 32 frequent (33%) HP:0000076
15 anal atresia 32 frequent (33%) HP:0002023
16 ureteral duplication 32 frequent (33%) HP:0000073
17 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
18 renal agenesis 32 frequent (33%) HP:0000104
19 hypertension 32 occasional (7.5%) HP:0000822
20 renal insufficiency 32 occasional (7.5%) HP:0000083
21 cryptorchidism 32 occasional (7.5%) HP:0000028
22 arnold-chiari malformation 32 occasional (7.5%) HP:0002308
23 arrhinencephaly 32 occasional (7.5%) HP:0002139
24 ambiguous genitalia 32 occasional (7.5%) HP:0000062
25 missing ribs 32 occasional (7.5%) HP:0000921
26 oral cleft 32 occasional (7.5%) HP:0000202
27 pulmonary hypoplasia 32 occasional (7.5%) HP:0002089

Drugs & Therapeutics for Caudal Regression Sequence

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of At-risk Population and Prognosis Factors for SACRO-coccygeal Teratoma in CURRARINO Syndrome. A Clinical, Molecular and Pathological Study. Completed NCT00780117

Search 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:

41
Spinal Cord, Kidney

Publications for Caudal Regression Sequence

Articles related to Caudal Regression Sequence:

(show all 11)
# Title Authors PMID Year
1
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. 38
30362177 2019
2
[Caudal regression sequence: clinical-radiological case]. 38
26455704 2015
3
Spectrum of congenital anomalies in pregnancies with pregestational diabetes. 38
22371321 2012
4
[Sonographic diagnosis of caudal regression syndrome]. 38
17918049 2007
5
Caudal regression sequence: vascular origin? 38
16801960 2006
6
Anomalous origin of left coronary artery from the right pulmonary artery in association with type III aortopulmonary window and interrupted aortic arch. 38
12238867 2002
7
Extreme hypotrophy of the lower body pole, extensive hypoplasia of the spinal column and multiple anomalies of abdominal organs: a maximal variant of the caudal regression sequence? 38
7735512 1995
8
Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother. 38
8775416 1995
9
Axial mesodermal dysplasia spectrum: affected sisters with oculoauriculovertebral "dysplasia" and caudal "regression" sequence. 38
7802018 1994
10
Axial mesodermal dysplasia spectrum. 38
8465843 1993
11
New multiple congenital anomalies syndrome in a stillborn infant of consanguinous parents and a prediabetic pregnancy. 38
2063890 1991

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
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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