MCID: CDL003
MIFTS: 55

Caudal Regression Syndrome malady

Neuronal diseases, Nephrological diseases, Fetal diseases, Endocrine diseases, Genetic diseases categories

Summaries for Caudal Regression Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Caudal regression syndrome is a rare birth defect that impairs the development of the lower (caudal) half of the body. the condition may affect the lower back (including the spinal cord) and limbs, the genitourinary tract, and the gastrointestinal tract. the severity of this condition varies among affected individuals. the cause of caudal regression syndrome is not known, but it may be related to maternal diabetes, genetic factors, and blood blockages (vascular hypoperfusion). last updated: 9/25/2012

MalaCards: Caudal Regression Syndrome, also known as caudal regression sequence, is related to meningocele and spina bifida, and has symptoms including stillbirth/neonatal death, abnormal vertebral size/shape and congenital cardiac anomaly/malformation/cardiopathy. An important gene associated with Caudal Regression Syndrome is VANGL1 (VANGL planar cell polarity protein 1), and among its related pathways are Adipogenesis and Vitamin A and carotenoid metabolism. The compounds ttab and am 580 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, thyroid and kidney, and related mouse phenotypes are embryogenesis and nervous system.

Genetics Home Reference:21 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:63 Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a congenital disorder in... more...

Description from OMIM:46 600145

Aliases & Classifications for Caudal Regression Syndrome

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60UMLS, 48Orphanet, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
sirenomelia:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
caudal regression sequence:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy
familial caudal dysgenesis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

caudal regression syndrome 42 21 46
caudal regression sequence 42 21 48
sacral agenesis syndrome 42 48 60
sacral regression syndrome 42 48
caudal dysgenesis syndrome 21 60
caudal dysplasia 42 48
sacral agenesis 42 21
sirenomelia 48 60
thyroid hormone plasma membrane transport defect 60
sacral defect with anterior meningocele 21
familial caudal dysgenesis 48
caudal dysplasia sequence 21
rudd klimek syndrome 60
rudd-klimek syndrome 48


External Ids:

SNOMED-CT via Orphanet57 253191000, 67254002, 91089008 205425003, 8301004, more
UMLS via Orphanet61 C0037205
OMIM46 600145
MESH via Orphanet35 C538595
ICD10 via Orphanet26 Q87.2, Q76.0, Q87.8

Related Diseases for Caudal Regression Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Caudal Regression Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1meningocele30.3MNX1
2spina bifida30.1FUZ, CYP26A1, VANGL1
3imperforate anus30.0CYP26A1
4thyroid hormone plasma membrane transport defect10.6
5sacral defect with anterior meningocele10.4
6patent foramen ovale10.4
7glanzmann's thrombasthenia10.4
8takayasu's arteritis10.4
9atrioventricular septal defect10.4
10congenital diaphragmatic hernia10.4
11atrial heart septal defect10.4
12congenital heart defect10.4
13urea cycle disorder10.4
14hereditary folate malabsorption10.4
15zap70-related severe combined immunodeficiency10.4
16acro-pectoro-renal field defect10.4
17ankle defects short stature10.4
18axial mesodermal dysplasia spectrum10.4
19branchial arch defects10.4
20cardioskeletal syndrome kuwaiti type10.4
21chylomicron retention disease10.4
22x-linked creatine deficiency10.4
23cystinosis, ocular nonnephropathic10.4
24hmg coa lyase deficiency10.4
25imerslund-grasbeck syndrome10.4
26defective apolipoprotein b-10010.4
27diaphragmatic hernia upper limb defects10.4
28peroxisome disorders10.4
29heart defect, tongue hamartoma and polysyndactyly10.4
30hermansky pudlak syndrome 210.4
31heterotaxy10.4
32red cell phospholipid defect with hemolysis10.4
33hyperthermia induced defects10.4
34lateral body wall defect10.4
35laterality defects dominant10.4
36limb reduction defect10.4
37overgrowth radial ray defect arthrogryposis10.4
38paraomphalocele10.4
39reductional transverse limb defects10.4
40renal agenesis meningomyelocele mullerian defect10.4
41trigonomacrocephaly tibial defect polydactyly10.4
42thyroid hormonogenesis defect i10.4
43combined oxidative phosphorylation deficiency 210.4
44combined oxidative phosphorylation deficiency 510.4
45combined oxidative phosphorylation deficiency 410.4
46combined oxidative phosphorylation deficiency 710.4
47combined oxidative phosphorylation deficiency 810.4
48combined oxidative phosphorylation deficiency 1010.4
49abdominal wall defect10.4
50critical congenital heart disease10.4

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



Diseases related to caudal regression syndrome

Clinical Features for Caudal Regression Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

600145

Clinical synopsis from OMIM:

600145

Symptoms:

48 (show all 44)
  • stillbirth/neonatal death
  • abnormal vertebral size/shape
  • congenital cardiac anomaly/malformation/cardiopathy
  • anus ectopia/anteposition/malposition
  • arnold-chiari anomaly
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • ambiguous genitalia
  • renal failure
  • chronic arterial hypertension
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • single umbilical artery
  • autosomal dominant inheritance
  • oligoamnios
  • uterine/uterus/fallopian tubes anomalies
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • bladder and ureter anomalies
  • agenesis/hypoplasia/aplasia of kidneys
  • transposition of great vessels
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • sacrococcyx agenesis
  • rib number anomalies
  • cleft lip and palate
  • restricted joint mobility/joint stiffness/ankylosis
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • vertebral segmentation anomaly/hemivertebrae
  • spina bifida
  • structural anomalies of the cardio-circulatory system
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • structural anomalies of the genital system
  • sirenomelia/mermaid/lower limb fusion
  • encopresis/fecal incontinence
  • motor deficit/trouble
  • areflexia/hyporeflexia
  • sphincter dysfunction
  • vesicorenal/vesicoureteral reflux
  • ectopic/horseshoe/fused kidneys
  • talipes-varus/metatarsal varus
  • scoliosis
  • maternal diabetes
  • polygenic/multifactorial inheritance
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy

Drugs & Therapeutics for Caudal Regression Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Caudal Regression Syndrome

Genetic Tests for Caudal Regression Syndrome

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Anatomical Context for Caudal Regression Syndrome

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32MalaCards
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MalaCards organs/tissues related to Caudal Regression Syndrome:

32
Spinal cord, Thyroid, Kidney, Testes, Uterus, Lung

Animal Models for Caudal Regression Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Caudal Regression Syndrome:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.9FUZ, VANGL1
2MP:00036319.2VANGL1, RARA, FUZ
3MP:00053778.8VANGL1, RARA, FUZ
4MP:00053718.7FUZ, RARA, VANGL1, CYP26A1
5MP:00053818.5MNX1, CYP26A1, RARA, FUZ
6MP:00053698.3FUZ, RARA, MNX1, WT1
7MP:00053898.1RARA, VANGL1, CYP26A1, WT1
8MP:00053798.1FUZ, RARA, MNX1, WT1
9MP:00053888.0WT1, MNX1, VANGL1, RARA, FUZ
10MP:00028737.8WT1, MNX1, CYP26A1, VANGL1, RARA
11MP:00053847.6FUZ, RARA, CYP26A1, MNX1, WT1
12MP:00053787.6WT1, MNX1, CYP26A1, VANGL1, RARA
13MP:00053857.4FUZ, RARA, VANGL1, CYP26A1, MNX1, WT1
14MP:00107687.3WT1, MNX1, CYP26A1, VANGL1, RARA, FUZ

Publications for Caudal Regression Syndrome

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Genetic Variations for Caudal Regression Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Caudal Regression Syndrome:

62
id Symbol AA change Variation ID SNP ID
1VANGL1p.Val239IleVAR_035209

Expression for genes affiliated with Caudal Regression Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Caudal Regression Syndrome

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

Pathways for genes affiliated with Caudal Regression Syndrome

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37NCBI BioSystems Database
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Pathways related to Caudal Regression Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3RARA, CYP26A1
29.3RARA, CYP26A1
39.3RARA, CYP26A1

Compounds for genes affiliated with Caudal Regression Syndrome

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Caudal Regression Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ttab449.6RARA, CYP26A1
2am 580449.5RARA, CYP26A1
3Etretinate119.5RARA, CYP26A1
4retinaldehyde449.5CYP26A1, RARA
5acitretin44 1110.4RARA, CYP26A1
6isotretinoin44 1110.4CYP26A1, RARA
7n-(4-hydroxyphenyl)retinamide449.2RARA, CYP26A1
8ornithine44 2410.1RARA, WT1
91,25 dihydroxy vitamin d3448.8RARA, WT1
10retinoic acid44 249.0WT1, MNX1, CYP26A1, RARA

GO Terms for genes affiliated with Caudal Regression Syndrome

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16Gene Ontology
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Biological processes related to Caudal Regression Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid receptor signaling pathwayGO:0483849.3RARA, CYP26A1
2cellular response to retinoic acidGO:0713009.3RARA, CYP26A1
3diaphragm developmentGO:0605399.2MNX1, WT1
4germ cell developmentGO:0072819.0WT1, RARA
5ureteric bud developmentGO:0016578.8RARA, WT1

Molecular functions related to Caudal Regression Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:0019729.0RARA, CYP26A1
2sequence-specific DNA bindingGO:0435658.6RARA, MNX1, WT1

Products for genes affiliated with Caudal Regression Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Caudal Regression Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet