MCID: CDL003
MIFTS: 52

Caudal Regression Syndrome malady

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

Aliases & Classifications for Caudal Regression Syndrome

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Aliases & Descriptions for Caudal Regression Syndrome:

Name: Caudal Regression Syndrome 49 11 45 23
Sacral Defect with Anterior Meningocele 45 22 23 67 24
Caudal Dysgenesis Syndrome 45 22 23 65
Caudal Regression Sequence 45 23 51
Sacral Agenesis Syndrome 45 51 65
Sacral Regression Syndrome 45 51
 
Caudal Dysplasia 45 51
Sacral Agenesis 45 23
Sdam 45 67
Sacral Defect and Anterior Sacral Meningocele 65
Caudal Dysplasia Sequence 23

Characteristics:

Orphanet epidemiological data:

51
caudal regression sequence:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

HPO:

61
caudal regression syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 600145
Orphanet51 3027
ICD10 via Orphanet28 Q76.0
UMLS via Orphanet66 C0300948, C0344490
UMLS65 C1867774, C1838569, C1838568

Summaries for Caudal Regression Syndrome

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OMIM:49 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 sacral agenesis with vertebral anomalies and sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome, and has symptoms including urogenital fistula, sirenomelia and maternal diabetes. An important gene associated with Caudal Regression Syndrome is VANGL1 (VANGL Planar Cell Polarity Protein 1), and among its related pathways are Adipogenesis and Signaling by Retinoic Acid. Affiliated tissues include spinal cord, kidney and lung, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

NIH Rare Diseases:45 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:67 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:23 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:68 Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a congenital disorder in... more...

Related Diseases for Caudal Regression Syndrome

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



Diseases related to caudal regression syndrome

Symptoms for Caudal Regression Syndrome

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Symptoms by clinical synopsis from OMIM:

600145

Clinical features from OMIM:

600145

Symptoms:

 51 (show all 29)
  • vertebral segmentation anomaly/hemivertebrae
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • sacrococcyx agenesis
  • encopresis/fecal incontinence
  • motor deficit/trouble
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • polygenic/multifactorial inheritance
  • maternal diabetes
  • scoliosis
  • talipes-varus/metatarsal varus
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • congenital cardiac anomaly/malformation/cardiopathy
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • sphincter dysfunction
  • areflexia/hyporeflexia
  • restricted joint mobility/joint stiffness/ankylosis
  • cleft lip and palate
  • rib number anomalies
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • chronic arterial hypertension
  • renal failure
  • ambiguous genitalia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • arnold-chiari anomaly
  • stillbirth/neonatal death

HPO human phenotypes related to Caudal Regression Syndrome:

(show all 45)
id Description Frequency HPO Source Accession
1 urogenital fistula hallmark (90%) HP:0100589
2 sirenomelia hallmark (90%) HP:0010497
3 maternal diabetes hallmark (90%) HP:0009800
4 renal hypoplasia/aplasia hallmark (90%) HP:0008678
5 aplasia/hypoplasia of the sacrum hallmark (90%) HP:0008517
6 vertebral segmentation defect hallmark (90%) HP:0003422
7 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
8 skeletal muscle atrophy hallmark (90%) HP:0003202
9 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
10 bowel incontinence hallmark (90%) HP:0002607
11 single umbilical artery hallmark (90%) HP:0001195
12 ambiguous genitalia hallmark (90%) HP:0000062
13 urogenital fistula typical (50%) HP:0100589
14 abnormal localization of kidney typical (50%) HP:0100542
15 renal hypoplasia/aplasia typical (50%) HP:0008678
16 aplasia/hypoplasia of the sacrum typical (50%) HP:0008517
17 aplasia/hypoplasia of the radius typical (50%) HP:0006501
18 ectopic anus typical (50%) HP:0004397
19 scoliosis typical (50%) HP:0002650
20 tracheoesophageal fistula typical (50%) HP:0002575
21 spina bifida typical (50%) HP:0002414
22 talipes typical (50%) HP:0001883
23 transposition of the great arteries typical (50%) HP:0001669
24 oligohydramnios typical (50%) HP:0001562
25 limitation of joint mobility typical (50%) HP:0001376
26 reduced tendon reflexes typical (50%) HP:0001315
27 vesicoureteral reflux typical (50%) HP:0000076
28 abnormality of female internal genitalia typical (50%) HP:0000008
29 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
30 arnold-chiari malformation occasional (7.5%) HP:0002308
31 holoprosencephaly occasional (7.5%) HP:0001360
32 hypertension occasional (7.5%) HP:0000822
33 abnormality of the ribs occasional (7.5%) HP:0000772
34 oral cleft occasional (7.5%) HP:0000202
35 renal insufficiency occasional (7.5%) HP:0000083
36 ambiguous genitalia occasional (7.5%) HP:0000062
37 cryptorchidism occasional (7.5%) HP:0000028
38 sacral lipoma HP:0012033
39 anterior sacral meningocele HP:0007293
40 rectal abscess HP:0005224
41 back pain HP:0003418
42 headache HP:0002315
43 constipation HP:0002019
44 meningitis HP:0001287
45 neurogenic bladder HP:0000011

Drugs & Therapeutics for Caudal Regression Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Caudal Regression Syndrome

Genetic Tests for Caudal Regression Syndrome

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Genetic tests related to Caudal Regression Syndrome:

id Genetic test Affiliating Genes
1 Caudal Dysgenesis Syndrome22 VANGL1

Anatomical Context for Caudal Regression Syndrome

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MalaCards organs/tissues related to Caudal Regression Syndrome:

33
Spinal cord, Kidney, Lung, Testes, Bone, Skeletal muscle, T cells

Animal Models for Caudal Regression Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Caudal Regression Syndrome:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1FUZ, RARA, VANGL1
2MP:00053718.8CYP26A1, FUZ, RARA, VANGL1
3MP:00053818.6CYP26A1, FUZ, MNX1, RARA
4MP:00053698.3FUZ, MNX1, RARA, WT1
5MP:00036318.2CYP26A1, FUZ, MNX1, RARA, VANGL1
6MP:00053888.1FUZ, MNX1, RARA, VANGL1, WT1
7MP:00053808.1CYP26A1, FUZ, RARA, VANGL1, WT1
8MP:00028737.9CYP26A1, MNX1, RARA, VANGL1, WT1
9MP:00053847.3CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
10MP:00107687.1CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
11MP:00053787.0CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1
12MP:00053856.8CYP26A1, FUZ, MNX1, RARA, VANGL1, WT1

Publications for Caudal Regression Syndrome

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Articles related to Caudal Regression Syndrome:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
VEGF Ameliorates Cognitive Impairment in In Vivo and In Vitro Ischemia via Improving Neuronal Viability and Function. (24338641)
2013
2
The predictive value of pre-operative symptoms including upper gastrointestinal endoscopy before laparoscopic cholecystectomy for elective symptomatic cholecystolithiasis. (24899324)
2013
3
Behavior of ADAMTS13 and Von Willebrand factor levels in patients after living donor liver transplantation. (23266519)
2013
4
PLP1 gene analysis in 88 patients with leukodystrophy. (23347225)
2013
5
Nonmelanoma skin cancer in young women. (23652953)
2013
6
Causes, consequences, and treatment of osteoporosis in men. (24009413)
2013
7
Social Context of Anger in Borderline Personality Disorder and Depressive Disorders: Findings from a Naturalistic Observation Study. (22984859)
2012
8
A curious case of a 'burned-out' hypereosinophilic syndrome. (21429579)
2011
9
Relationship between carotid intima-media thickness and the presence and extent of coronary stenosis in type 2 diabetic patients with carotid atherosclerosis but without history of coronary artery disease. (21270201)
2011
10
Pedro Pons' sign as a Brucellosis complication. (21393913)
2011
11
The role of AIRE in human autoimmune disease. (21102544)
2011
12
Role of OGG1 Ser326Cys polymorphism and 8-oxoguanine DNA damage in risk assessment of squamous cell carcinoma of head and neck in North Indian population. (21986195)
2011
13
An isolated Merkel cell carcinoma metastasis at a distant cutaneous site presenting as a second 'primary' tumor. (21883364)
2011
14
Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut. (20696606)
2010
15
The role of PI3P phosphatases in the regulation of autophagy. (20188094)
2010
16
Drug-induced vasculitis. (18281855)
2008
17
Regulation and dysregulation of aquaporins in water balance disorders. (17222168)
2007
18
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. (17157502)
2007
19
History of Wolff-Parkinson-White syndrome: introductory note to a classic article by Louis Wolff, MD, John Parkinson, MD, and Paul D White, MD. (17040282)
2006
20
Genetic polymorphisms and susceptibility to lung disease. (16608528)
2006
21
Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. (17047026)
2006
22
Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. (16167422)
2005
23
Renal cells express a functional interleukin-15 receptor. (15671076)
2005
24
Beta-arrestin-dependent spontaneous alpha1a-adrenoceptor endocytosis causes intracellular transportation of alpha-blockers via recycling compartments. (15626751)
2005
25
Etanercept in treatment of Felty's syndrome. (15958767)
2005
26
Rosacea. An overview of diagnosis and management. (15615217)
2004
27
Anterior cervical arachnoid cyst presenting with traumatic quadriplegia. (15007602)
2004
28
A cladistic model of ACE sequence variation with implications for myocardial infarction, Alzheimer disease and obesity. (15367486)
2004
29
Effect of adenovirus-mediated overexpression of decorin on metalloproteinases, tissue inhibitors of metalloproteinases and cytokines secretion by human gingival fibroblasts. (12853035)
2003
30
An ATP-gated ion channel at the cell nucleus. (12422208)
2002
31
Cytosolic import factor- and Ran-independent nuclear transport of ribosomal protein L5. (11824785)
2001
32
Immunoglobulin-E-bearing cells in skin biopsies of horses with insect bite hypersensitivity. (11770993)
2001
33
Growth and metabolic disturbances in a patient with total parenteral nutrition: a case of hypercalciuric hypercalcemia. (10890203)
2000
34
Human ferrochelatase: crystallization, characterization of the [2Fe-2S] cluster and determination that the enzyme is a homodimer. (10561552)
1999
35
Regulation of LEF-1/TCF transcription factors by Wnt and other signals. (10209158)
1999
36
Separation-of-function mutations in Saccharomyces cerevisiae MSH2 that confer mismatch repair defects but do not affect nonhomologous-tail removal during recombination. (10523644)
1999
37
Spontaneous splenic rupture and infectious mononucleosis in a forensic setting. (9825550)
1998
38
Development and characterization of a conditionally transformed adult human osteoblastic cell line. (8725178)
1996
39
Inflammatory cytokines in CSF in bacterial meningitis: association with altered blood flow velocities in basal cerebral arteries. (8676162)
1996
40
Effect of race and hypertension on plasma amylin concentrations. (8641735)
1996
41
Acute variceal bleeding: somatostatin or sclerotherapy? (7993871)
1994
42
A comparative I-123 IMP SPECT study in Binswanger's disease and Alzheimer's disease. (8482030)
1993
43
Trp387 and the putative leucine zippers of PGH synthases-1 and -2. (8357979)
1993
44
Vasospasm in a coronary artery aneurysm. (1901244)
1991
45
Stimulation by NaCl, polylysine and heparin of two forms of spleen tyrosine protein kinase immunologically related with the protein expressed by lyn oncogene. (1995063)
1991
46
Dysregulation of cytochrome P450c 17 alpha as the cause of polycystic ovarian syndrome. (2185040)
1990
47
Recurrence of hepatic amebiasis after successful treatment with metronidazole. (2980773)
1988
48
Ankylosing spondylitis with cauda equina syndrome. Case report. (4069104)
1985
49
Bone scintigraphy in the preoperative evaluation of osteoid osteoma and osteoblastoma of the spine. (6721416)
1984
50
MYOMA-ERYTHROCYTOSIS SYNDROME, PRESENTING WITH ACUTE HEPATIC VEIN THROMBOSIS. (14269124)
1965

Variations for Caudal Regression Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1VANGL1p.Val239IleVAR_035209

Expression for genes affiliated with Caudal Regression Syndrome

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

Pathways for genes affiliated with Caudal Regression Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.3CYP26A1, RARA
2
Show member pathways
9.3CYP26A1, RARA
3
Show member pathways
9.3CYP26A1, RARA
49.3CYP26A1, RARA

GO Terms for genes affiliated with Caudal Regression Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1neural tube closureGO:00018439.9FUZ, RARA
2male gonad developmentGO:00085849.5RARA, WT1
3negative regulation of translationGO:00171489.4RARA, WT1
4ureteric bud developmentGO:00016579.3RARA, WT1
5germ cell developmentGO:00072819.1RARA, WT1
6regulation of transcription, DNA-templatedGO:00063558.3MNX1, RARA, WT1

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:00019729.3CYP26A1, RARA
2transcription regulatory region DNA bindingGO:00442129.0RARA, WT1

Sources for Caudal Regression Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet