SDAM
MCID: SCR020
MIFTS: 44

Sacral Defect with Anterior Meningocele (SDAM)

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

Aliases & Classifications for Sacral Defect with Anterior Meningocele

MalaCards integrated aliases for Sacral Defect with Anterior Meningocele:

Name: Sacral Defect with Anterior Meningocele 58 26 76 30
Caudal Regression Syndrome 58 77 54 26 30 13 6 41
Caudal Dysgenesis Syndrome 26 6 74
Sacral Agenesis 54 26 6
Caudal Regression Sequence 54 26
Sacral Agenesis Syndrome 54 74
Sirenomelia 60 74
Sdam 58 76
Sacral Defect and Anterior Sacral Meningocele 74
Anterior Sacral Meningocele 30
Sacral Regression Syndrome 54
Caudal Dysplasia Sequence 26
Rudd Klimek Syndrome 74
Caudal Dysplasia 54

Characteristics:

Orphanet epidemiological data:

60
sirenomelia
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
sacral defect with anterior meningocele:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Sacral Defect with Anterior Meningocele

OMIM : 58 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 : Sacral Defect with Anterior Meningocele, also known as caudal regression syndrome, is related to sacral agenesis with vertebral anomalies and currarino syndrome, and has symptoms including back pain and headache. An important gene associated with Sacral Defect with Anterior Meningocele is VANGL1 (VANGL Planar Cell Polarity Protein 1). Affiliated tissues include spinal cord, kidney and colon, and related phenotypes are bowel incontinence and decreased muscle mass

Genetics Home Reference : 26 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.

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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a congenital disorder... more...

Related Diseases for Sacral Defect with Anterior Meningocele

Diseases related to Sacral Defect with Anterior Meningocele via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 sacral agenesis with vertebral anomalies 12.6
2 currarino syndrome 12.1
3 selig benacerraf greene syndrome 11.4
4 holoprosencephaly caudal dysgenesis 11.3
5 spranger schinzel myers syndrome 11.2
6 marfan syndrome 10.5
7 ovarian cyst 10.4
8 bacterial meningitis 10.3
9 neurogenic bladder 10.3
10 anencephaly 10.2
11 potter's syndrome 10.2
12 cauda equina syndrome 10.2
13 sirenomelia 10.2
14 craniorachischisis 10.2
15 vater/vacterl association 10.1
16 vacterl association 10.1
17 meningocele 10.1
18 neural tube defects 10.1
19 holoprosencephaly 10.1
20 epidermoid cysts 10.1
21 osteomyelitis 10.1
22 anaerobic meningitis 10.1
23 teratoma 10.1
24 spondylitis 10.1
25 diverticulitis 10.1
26 carcinoid syndrome 10.1
27 fetal thalidomide syndrome 10.1
28 hemifacial microsomia 10.0
29 situs inversus 10.0
30 limb-body wall complex 10.0
31 pierre robin syndrome 10.0
32 diabetes mellitus 10.0
33 alobar holoprosencephaly 10.0
34 tracheoesophageal fistula with or without esophageal atresia 9.9
35 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
36 hydrocephalus 9.9
37 esophageal atresia 9.9
38 gestational diabetes 9.9
39 oligohydramnios 9.9
40 dextrocardia 9.9
41 dextrocardia with situs inversus 9.9
42 pentalogy of cantrell 9.9
43 renal dysplasia 9.9
44 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
45 medulloblastoma 9.9
46 anus, imperforate 9.9
47 wilms tumor 5 9.9
48 neural tube defects, folate-sensitive 9.9
49 polydactyly 9.9
50 lipomyelomeningocele 9.9

Graphical network of the top 20 diseases related to Sacral Defect with Anterior Meningocele:



Diseases related to Sacral Defect with Anterior Meningocele

Symptoms & Phenotypes for Sacral Defect with Anterior Meningocele

Human phenotypes related to Sacral Defect with Anterior Meningocele:

33 60 (show all 47)
# Description HPO Frequency Orphanet 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 anal atresia 60 33 frequent (33%) Very frequent (99-80%) HP:0002023
10 scoliosis 33 frequent (33%) HP:0002650
11 joint stiffness 33 frequent (33%) HP:0001387
12 ectopic kidney 33 frequent (33%) HP:0000086
13 reduced tendon reflexes 33 frequent (33%) HP:0001315
14 talipes equinovarus 33 frequent (33%) HP:0001762
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 ambiguous genitalia 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000062
20 hypertension 33 occasional (7.5%) HP:0000822
21 renal insufficiency 33 occasional (7.5%) HP:0000083
22 cryptorchidism 33 occasional (7.5%) HP:0000028
23 arnold-chiari malformation 33 occasional (7.5%) HP:0002308
24 arrhinencephaly 33 occasional (7.5%) HP:0002139
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
28 absence of the sacrum 60 33 Very frequent (99-80%) HP:0010305
29 constipation 33 HP:0002019
30 abnormality of the cardiovascular system 60 Frequent (79-30%)
31 renal hypoplasia/aplasia 60 Very frequent (99-80%)
32 back pain 33 HP:0003418
33 meningocele 33 HP:0002435
34 spina bifida 60 Frequent (79-30%)
35 meningitis 33 HP:0001287
36 tracheoesophageal fistula 60 Frequent (79-30%)
37 headache 33 HP:0002315
38 abnormality of the urinary system 60 Very frequent (99-80%)
39 aplasia/hypoplasia of the radius 60 Frequent (79-30%)
40 sirenomelia 60 Very frequent (99-80%)
41 urinary retention 33 HP:0000016
42 neurogenic bladder 33 HP:0000011
43 sacral lipoma 33 HP:0012033
44 dermoid cyst 33 HP:0025247
45 rectal abscess 33 HP:0005224
46 anterior sacral meningocele 33 HP:0007293
47 hemisacrum 33 HP:0009790

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
back pain
sacral agenesis
anterior sacral hemidefect
'scimitar' sign on x-ray
hemisacrum
more
Genitourinary Bladder:
neurogenic bladder
urinary retention due to mass effect of meningocele
increased urinary frequency

Prenatal Manifestations Maternal:
prolonged labor
obstructed labor

Neurologic Central Nervous System:
back pain
headache
dermoid cyst
meningocele, anterior sacral
cysts tend to enlarge with age
more
Abdomen Gastrointestinal:
constipation due to mass effect of meningocele

Clinical features from OMIM:

600145

UMLS symptoms related to Sacral Defect with Anterior Meningocele:


back pain, headache

MGI Mouse Phenotypes related to Sacral Defect with Anterior Meningocele:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.96 RYR1 VANGL1
2 respiratory system MP:0005388 8.62 RYR1 VANGL1

Drugs & Therapeutics for Sacral Defect with Anterior Meningocele

Search Clinical Trials , NIH Clinical Center for Sacral Defect with Anterior Meningocele

Genetic Tests for Sacral Defect with Anterior Meningocele

Genetic tests related to Sacral Defect with Anterior Meningocele:

# Genetic test Affiliating Genes
1 Sacral Defect with Anterior Meningocele 30 VANGL1
2 Caudal Regression Syndrome 30
3 Anterior Sacral Meningocele 30

Anatomical Context for Sacral Defect with Anterior Meningocele

MalaCards organs/tissues related to Sacral Defect with Anterior Meningocele:

42
Spinal Cord, Kidney, Colon, Bone, Pancreas

Publications for Sacral Defect with Anterior Meningocele

Articles related to Sacral Defect with Anterior Meningocele:

(show top 50) (show all 100)
# Title Authors Year
1
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. ( 30362177 )
2019
2
Pierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes. ( 29651537 )
2018
3
Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly. ( 28439323 )
2017
4
Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome. ( 28124993 )
2017
5
Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother. ( 28904658 )
2017
6
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review. ( 28875772 )
2017
7
Caudal Regression Syndrome with Pressure Ulcers of the Foot: A Case Report. ( 28892975 )
2017
8
Caudal Regression Syndrome with Bilateral Microtia. ( 28969749 )
2017
9
A Rare Case of Caudal Regression Syndrome in a Foetus of Non-Diabetic Mother: A Case Report. ( 29657626 )
2017
10
Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up. ( 30363289 )
2017
11
Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients. ( 27833778 )
2016
12
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
13
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia and horse-shoe kidney. ( 26482981 )
2015
14
In utero diagnosis of caudal regression syndrome. ( 27408660 )
2015
15
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. ( 26239763 )
2015
16
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. ( 25845272 )
2015
17
Sirenomelia and severe caudal regression syndrome. ( 25551110 )
2014
18
High abrupt cord termination: a hallmark of caudal regression syndrome. ( 24473424 )
2014
19
A case of caudal regression syndrome: walking or sitting? ( 25400859 )
2014
20
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. ( 23652529 )
2013
21
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. ( 24083063 )
2013
22
A rare congenital malformation: caudal regression syndrome. ( 23504067 )
2013
23
Conjoined legs: Sirenomelia or caudal regression syndrome? ( 23960288 )
2013
24
Caudal regression syndrome. ( 23445152 )
2013
25
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. ( 22761628 )
2012
26
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. ( 22995555 )
2012
27
Scoliotic deformity and asymptomatic cervical syrinx in a 9 year old with caudal regression syndrome. ( 23560005 )
2012
28
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. ( 22526445 )
2012
29
Prenatal diagnosis of caudal regression syndrome without maternal diabetes mellitus. ( 24591990 )
2011
30
Teaching NeuroImages: caudal regression syndrome. ( 22170950 )
2011
31
Juvenile glaucoma in a child with caudal regression syndrome. ( 20809909 )
2011
32
Caudal regression syndrome in one of dizygotic twins. ( 21043567 )
2010
33
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. ( 21509087 )
2010
34
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. ( 22953253 )
2010
35
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. ( 19198864 )
2009
36
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. ( 19536863 )
2009
37
Recognition of caudal regression syndrome. ( 19363325 )
2009
38
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. ( 19995255 )
2009
39
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. ( 19099562 )
2008
40
Caudal regression syndrome. ( 18536840 )
2008
41
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. ( 18358295 )
2008
42
Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion. ( 16949239 )
2007
43
Pre-natal diagnosis of caudal regression syndrome. ( 17686358 )
2007
44
Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome. ( 17968797 )
2007
45
Caudal Regression Syndrome. ( 27407981 )
2007
46
Caudal regression syndrome with sacral rib: MRI features. ( 17050368 )
2006
47
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. ( 17021725 )
2006
48
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. ( 16463413 )
2006
49
HLXB9 homeobox gene and caudal regression syndrome. ( 16498628 )
2006
50
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. ( 16291141 )
2005

Variations for Sacral Defect with Anterior Meningocele

UniProtKB/Swiss-Prot genetic disease variations for Sacral Defect with Anterior Meningocele:

76
# Symbol AA change Variation ID SNP ID
1 VANGL1 p.Val239Ile VAR_035209 rs121918218

ClinVar genetic disease variations for Sacral Defect with Anterior Meningocele:

6 (show top 50) (show all 262)
# Gene Variation Type Significance SNP ID Assembly Location
1 VANGL1 NM_138959.2(VANGL1): c.435T> C (p.Cys145=) single nucleotide variant Benign/Likely benign rs34768472 GRCh37 Chromosome 1, 116206512: 116206512
2 VANGL1 NM_138959.2(VANGL1): c.435T> C (p.Cys145=) single nucleotide variant Benign/Likely benign rs34768472 GRCh38 Chromosome 1, 115663891: 115663891
3 VANGL1 NM_138959.2(VANGL1): c.715G> A (p.Val239Ile) single nucleotide variant Likely pathogenic rs121918218 GRCh37 Chromosome 1, 116206792: 116206792
4 VANGL1 NM_138959.2(VANGL1): c.715G> A (p.Val239Ile) single nucleotide variant Likely pathogenic rs121918218 GRCh38 Chromosome 1, 115664171: 115664171
5 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh37 Chromosome 19, 38986923: 38986923
6 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh38 Chromosome 19, 38496283: 38496283
7 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh37 Chromosome 1, 116245551: 116245551
8 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh38 Chromosome 1, 115702930: 115702930
9 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh37 Chromosome 1, 116245533: 116245533
10 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh38 Chromosome 1, 115702912: 115702912
11 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh37 Chromosome 1, 116243877: 116243877
12 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh38 Chromosome 1, 115701256: 115701256
13 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh37 Chromosome 1, 116243868: 116243868
14 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh38 Chromosome 1, 115701247: 115701247
15 VANGL1 NM_138959.2(VANGL1): c.-226G> C single nucleotide variant Likely benign rs116216703 GRCh38 Chromosome 1, 115641998: 115641998
16 VANGL1 NM_138959.2(VANGL1): c.-226G> C single nucleotide variant Likely benign rs116216703 GRCh37 Chromosome 1, 116184619: 116184619
17 VANGL1 NM_138959.2(VANGL1): c.765C> T (p.Val255=) single nucleotide variant Uncertain significance rs368722418 GRCh38 Chromosome 1, 115664221: 115664221
18 VANGL1 NM_138959.2(VANGL1): c.765C> T (p.Val255=) single nucleotide variant Uncertain significance rs368722418 GRCh37 Chromosome 1, 116206842: 116206842
19 VANGL1 NM_138959.2(VANGL1): c.812+9C> T single nucleotide variant Uncertain significance rs370321176 GRCh38 Chromosome 1, 115664277: 115664277
20 VANGL1 NM_138959.2(VANGL1): c.812+9C> T single nucleotide variant Uncertain significance rs370321176 GRCh37 Chromosome 1, 116206898: 116206898
21 VANGL1 NM_138959.2(VANGL1): c.*301G> C single nucleotide variant Uncertain significance rs193075321 GRCh38 Chromosome 1, 115691680: 115691680
22 VANGL1 NM_138959.2(VANGL1): c.*301G> C single nucleotide variant Uncertain significance rs193075321 GRCh37 Chromosome 1, 116234301: 116234301
23 VANGL1 NM_138959.2(VANGL1): c.*483A> G single nucleotide variant Uncertain significance rs886045122 GRCh38 Chromosome 1, 115691862: 115691862
24 VANGL1 NM_138959.2(VANGL1): c.*483A> G single nucleotide variant Uncertain significance rs886045122 GRCh37 Chromosome 1, 116234483: 116234483
25 VANGL1 NM_138959.2(VANGL1): c.*929G> A single nucleotide variant Uncertain significance rs886045123 GRCh38 Chromosome 1, 115692308: 115692308
26 VANGL1 NM_138959.2(VANGL1): c.*929G> A single nucleotide variant Uncertain significance rs886045123 GRCh37 Chromosome 1, 116234929: 116234929
27 VANGL1 NM_138959.2(VANGL1): c.*1183delA deletion Likely benign rs3841008 GRCh38 Chromosome 1, 115692562: 115692562
28 VANGL1 NM_138959.2(VANGL1): c.*1183delA deletion Likely benign rs3841008 GRCh37 Chromosome 1, 116235183: 116235183
29 VANGL1 NM_138959.2(VANGL1): c.*1545A> G single nucleotide variant Uncertain significance rs117337677 GRCh38 Chromosome 1, 115692924: 115692924
30 VANGL1 NM_138959.2(VANGL1): c.*1545A> G single nucleotide variant Uncertain significance rs117337677 GRCh37 Chromosome 1, 116235545: 116235545
31 VANGL1 NM_138959.2(VANGL1): c.*2107A> G single nucleotide variant Uncertain significance rs886045130 GRCh38 Chromosome 1, 115693486: 115693486
32 VANGL1 NM_138959.2(VANGL1): c.*2107A> G single nucleotide variant Uncertain significance rs886045130 GRCh37 Chromosome 1, 116236107: 116236107
33 VANGL1 NM_138959.2(VANGL1): c.*2187T> C single nucleotide variant Likely benign rs146730302 GRCh38 Chromosome 1, 115693566: 115693566
34 VANGL1 NM_138959.2(VANGL1): c.*2187T> C single nucleotide variant Likely benign rs146730302 GRCh37 Chromosome 1, 116236187: 116236187
35 VANGL1 NM_138959.2(VANGL1): c.*2695C> A single nucleotide variant Uncertain significance rs540290490 GRCh38 Chromosome 1, 115694074: 115694074
36 VANGL1 NM_138959.2(VANGL1): c.*2695C> A single nucleotide variant Uncertain significance rs540290490 GRCh37 Chromosome 1, 116236695: 116236695
37 VANGL1 NM_138959.2(VANGL1): c.*2865A> G single nucleotide variant Uncertain significance rs114921471 GRCh38 Chromosome 1, 115694244: 115694244
38 VANGL1 NM_138959.2(VANGL1): c.*2865A> G single nucleotide variant Uncertain significance rs114921471 GRCh37 Chromosome 1, 116236865: 116236865
39 VANGL1 NM_138959.2(VANGL1): c.*2992G> A single nucleotide variant Uncertain significance rs886045135 GRCh38 Chromosome 1, 115694371: 115694371
40 VANGL1 NM_138959.2(VANGL1): c.*2992G> A single nucleotide variant Uncertain significance rs886045135 GRCh37 Chromosome 1, 116236992: 116236992
41 VANGL1 NM_138959.2(VANGL1): c.*3023G> T single nucleotide variant Likely benign rs10923204 GRCh38 Chromosome 1, 115694402: 115694402
42 VANGL1 NM_138959.2(VANGL1): c.*3023G> T single nucleotide variant Likely benign rs10923204 GRCh37 Chromosome 1, 116237023: 116237023
43 VANGL1 NM_138959.2(VANGL1): c.*3289A> G single nucleotide variant Uncertain significance rs886045136 GRCh38 Chromosome 1, 115694668: 115694668
44 VANGL1 NM_138959.2(VANGL1): c.*3289A> G single nucleotide variant Uncertain significance rs886045136 GRCh37 Chromosome 1, 116237289: 116237289
45 VANGL1 NM_138959.2(VANGL1): c.*3417C> T single nucleotide variant Likely benign rs76160883 GRCh38 Chromosome 1, 115694796: 115694796
46 VANGL1 NM_138959.2(VANGL1): c.*3417C> T single nucleotide variant Likely benign rs76160883 GRCh37 Chromosome 1, 116237417: 116237417
47 VANGL1 NM_138959.2(VANGL1): c.*3544C> T single nucleotide variant Likely benign rs74117023 GRCh38 Chromosome 1, 115694923: 115694923
48 VANGL1 NM_138959.2(VANGL1): c.*3544C> T single nucleotide variant Likely benign rs74117023 GRCh37 Chromosome 1, 116237544: 116237544
49 VANGL1 NM_138959.2(VANGL1): c.*4089delT deletion Likely benign rs138659832 GRCh38 Chromosome 1, 115695468: 115695468
50 VANGL1 NM_138959.2(VANGL1): c.*4089delT deletion Likely benign rs138659832 GRCh37 Chromosome 1, 116238089: 116238089

Expression for Sacral Defect with Anterior Meningocele

Search GEO for disease gene expression data for Sacral Defect with Anterior Meningocele.

Pathways for Sacral Defect with Anterior Meningocele

GO Terms for Sacral Defect with Anterior Meningocele

Biological processes related to Sacral Defect with Anterior Meningocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 RYR1 VANGL1

Sources for Sacral Defect with Anterior Meningocele

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