SDAM
MCID: SCR020
MIFTS: 52

Sacral Defect with Anterior Meningocele (SDAM)

Categories: Fetal diseases, Genetic diseases, Nephrological 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 56 52 25 73 29
Caudal Regression Syndrome 56 74 52 25 13 6 39
Caudal Regression Sequence 52 25 58
Caudal Dysgenesis Syndrome 25 6 71
Sacral Agenesis Syndrome 52 58 71
Sacral Agenesis 52 25 6
Sacral Regression Syndrome 52 58
Caudal Dysplasia 52 58
Sirenomelia 58 71
Sdam 56 73
Sacral Defect and Anterior Sacral Meningocele 71
Caudal Dysplasia Sequence 25
Rudd Klimek Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
sirenomelia
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;
caudal regression sequence
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
sacral defect with anterior meningocele:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Sacral Defect with Anterior Meningocele

Genetics Home Reference : 25 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. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. Affected individuals may have incomplete closure of the vertebrae around the spinal cord, a fluid-filled sac on the back covered by skin that may or may not contain part of the spinal cord, or tufts of hair at the base of the spine. People with caudal regression syndrome can also have an abnormal side-to-side curvature of the spine (scoliosis). The spinal abnormalities may affect the size and shape of the chest, leading to breathing problems in some individuals. Individuals with caudal regression syndrome may have small hip bones with a limited range of motion. The buttocks tend to be flat and dimpled. The bones of the legs are typically underdeveloped, most frequently the upper leg bones (femurs). In some individuals, the legs are bent with the knees pointing out to the side and the feet tucked underneath the hips (sometimes called a frog leg-like position). Affected individuals may be born with inward- and upward-turning feet (clubfeet), or the feet may be outward- and upward-turning (calcaneovalgus). Some people experience decreased sensation in their lower limbs. Abnormalities in the genitourinary tract in caudal regression syndrome are extremely varied. Often the kidneys are malformed; defects include a missing kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe kidney), or duplication of the tubes that carry urine from each kidney to the bladder (ureteral duplication). These kidney abnormalities can lead to frequent urinary tract infections and progressive kidney failure. Additionally, affected individuals may have protrusion of the bladder through an opening in the abdominal wall (bladder exstrophy). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Genital abnormalities in males can include the urethra opening on the underside of the penis (hypospadia) or undescended testes (cryptorchidism). Females may have an abnormal connection between the rectum and vagina (rectovaginal fistula). In severe cases, both males and females have a lack of development of the genitalia (genital agenesis). People with caudal regression syndrome may have abnormal twisting (malrotation) of the large intestine, an obstruction of the anal opening (imperforate anus), soft out-pouchings in the lower abdomen (inguinal hernias), or other malformations of the gastrointestinal tract. Affected individuals are often constipated and may experience loss of control of bladder and bowel function.

MalaCards based summary : Sacral Defect with Anterior Meningocele, also known as caudal regression syndrome, is related to anencephaly and scoliosis, 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). The drugs Ethanol and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, kidney and bone, and related phenotypes are bowel incontinence and decreased muscle mass

NIH Rare Diseases : 52 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.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It... 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 186)
# Related Disease Score Top Affiliating Genes
1 anencephaly 30.0 VANGL1 FUZ
2 scoliosis 28.8 VANGL1 RYR1
3 sacral agenesis with vertebral anomalies 12.9
4 holoprosencephaly-caudal dysgenesis syndrome 12.4
5 caudal regression-sirenomelia spectrum 12.3
6 selig benacerraf greene syndrome 11.6
7 sirenomelia 10.4
8 esophageal atresia 10.3
9 acute cystitis 10.3
10 renal hypodysplasia/aplasia 1 10.2
11 neurogenic bladder 10.2
12 craniorachischisis 10.2
13 neural tube defects 10.2
14 anus, imperforate 10.2
15 rare surgical neurologic disease 10.2
16 gestational diabetes 10.2
17 hydrocephalus 10.1
18 posterior meningocele 10.1
19 anal fistula 10.1
20 meningocele 10.1
21 constipation 10.1
22 lipomatosis, multiple 10.1
23 diastematomyelia 10.1
24 preaxial hallucal polydactyly 10.1
25 pleomorphic lipoma 10.1
26 clubfoot 10.1
27 hyperglycemia 10.1
28 holoprosencephaly 10.1
29 rectal duplication 10.1
30 cleft palate, isolated 10.1
31 vacterl association with hydrocephalus 10.1
32 intestinal atresia 10.1
33 47,xyy 10.1
34 limb-body wall complex 10.1
35 vacterl association 10.0
36 microcephaly 10.0
37 anorectal anomalies 10.0
38 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
39 currarino syndrome 10.0
40 syringomyelia, noncommunicating isolated 10.0
41 pierre robin syndrome 10.0
42 wilms tumor 5 10.0
43 polydactyly 10.0
44 intraocular pressure quantitative trait locus 10.0
45 omphalocele 10.0
46 syringomyelia 10.0
47 paraplegia 10.0
48 myelocystocele 10.0
49 alobar holoprosencephaly 10.0
50 atresia of urethra 10.0

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:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowel incontinence 58 31 hallmark (90%) Very frequent (99-80%) HP:0002607
2 decreased muscle mass 58 31 hallmark (90%) Very frequent (99-80%) HP:0003199
3 impulsivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100710
4 abnormal vertebral segmentation and fusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0005640
5 maternal diabetes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009800
6 hypoplastic vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0008479
7 aplasia/hypoplasia of the sacrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0008517
8 abnormality of the wing of the ilium 58 31 hallmark (90%) Very frequent (99-80%) HP:0011867
9 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
10 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
11 ectopic kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000086
12 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
13 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
14 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
15 anal atresia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002023
16 ureteral duplication 58 31 frequent (33%) Frequent (79-30%) HP:0000073
17 renal agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0000104
18 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
19 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
20 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
21 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
22 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
23 arrhinencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002139
24 ambiguous genitalia 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000062
25 missing ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000921
26 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
27 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
28 absence of the sacrum 58 31 Very frequent (99-80%) HP:0010305
29 constipation 31 HP:0002019
30 abnormality of the cardiovascular system 58 Frequent (79-30%)
31 malformation of the heart and great vessels 58 Frequent (79-30%)
32 tracheoesophageal fistula 58 Frequent (79-30%)
33 renal hypoplasia/aplasia 58 Very frequent (99-80%)
34 back pain 31 HP:0003418
35 meningocele 31 HP:0002435
36 headache 31 HP:0002315
37 spina bifida 58 Frequent (79-30%)
38 meningitis 31 HP:0001287
39 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)
40 abnormality of the urinary system 58 Very frequent (99-80%)
41 abnormality of the ureter 58 Frequent (79-30%)
42 aplasia/hypoplasia of the radius 58 Frequent (79-30%)
43 sirenomelia 58 Very frequent (99-80%)
44 urinary retention 31 HP:0000016
45 neurogenic bladder 31 HP:0000011
46 hemisacrum 31 HP:0009790
47 sacral lipoma 31 HP:0012033
48 dermoid cyst 31 HP:0025247
49 rectal abscess 31 HP:0005224
50 anterior sacral meningocele 31 HP:0007293

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
back pain
hemisacrum
sacral agenesis
anterior sacral hemidefect
'scimitar' sign on x-ray
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

GenomeRNAi Phenotypes related to Sacral Defect with Anterior Meningocele according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Sindbis virus (SINV) infection GR00310-A-1 8.8 FUZ
2 Increased Sindbis virus (SINV) infection GR00310-A-2 8.8 FUZ RYR1

MGI Mouse Phenotypes related to Sacral Defect with Anterior Meningocele:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.33 FUZ RYR1 VANGL1
2 respiratory system MP:0005388 9.13 FUZ RYR1 VANGL1
3 skeleton MP:0005390 8.8 FUZ RYR1 VANGL1

Drugs & Therapeutics for Sacral Defect with Anterior Meningocele

Drugs for Sacral Defect with Anterior Meningocele (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702
2
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
3
Brexpiprazole Approved, Investigational Phase 2 913611-97-9 11978813
4 Neurotransmitter Agents Phase 2
5 Dopamine Agents Phase 2
6 Dopamine agonists Phase 2
7 Serotonin Agents Phase 2
8
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pharmacogenetic Human Laboratory Investigation of Brexpiprazole in Alcohol Use Disorder Not yet recruiting NCT04066192 Phase 2 Brexpiprazole;Placebo
2 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 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 29 VANGL1

Anatomical Context for Sacral Defect with Anterior Meningocele

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

40
Spinal Cord, Kidney, Bone, Skin, Testes, Heart, Colon

Publications for Sacral Defect with Anterior Meningocele

Articles related to Sacral Defect with Anterior Meningocele:

(show top 50) (show all 274)
# Title Authors PMID Year
1
Mutations in VANGL1 associated with neural-tube defects. 56 6
17409324 2007
2
Multidisciplinary management of caudal regression syndrome (26 cases). 61 56
9008829 1996
3
Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. 61 56
7977450 1994
4
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia. 56
25044506 2014
5
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. 56
22002878 2011
6
Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. 56
17963219 2007
7
"Like mother, like son:" hereditary anterior sacral meningocele. Case report and review of the literature. 56
16506502 2006
8
Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. 56
11528505 2001
9
Autosomal dominant sacral agenesis: Currarino syndrome. 56
10922380 2000
10
Involvement of the HLXB9 homeobox gene in Currarino syndrome. 56
10631160 2000
11
Sacral agenesis and caudal spinal cord malformations. 56
8492851 1993
12
Anterior sacral meningocele occurring in one family. An autosomal dominantly inherited condition. 56
2334530 1990
13
The syndrome of caudal dysplasia: a review, including etiologic considerations and evidence of heterogeneity. 56
6393099 1984
14
A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. 56
6214946 1982
15
Familial caudal regression anomalad and maternal diabetes. 56
469880 1979
16
Caudal regression anomalad (sacral agenesis) in siblings. 56
657575 1978
17
Hereditary defect of the sacrum. 56
1150242 1975
18
[Familial sacro-coccygeal agenesis. Apropos of 6 cases in 2 families]. 56
4610092 1974
19
Anterior sacral meningocele occurring in a family. 56
4707300 1973
20
Hereditary sacral agenesis associated with presacral tumours. 56
4700226 1973
21
Anterior sacral meningocele, anal canal duplication cyst and covered anus occurring in one family. 56
5505693 1970
22
[Anterior sacral meningocele. Review of the literature and presentation of a case]. 56
5401299 1969
23
Sacral agenesis. 56
4891160 1969
24
Hereditary defect of the sacrum and coccyx with anterior sacral meningocele. 56
5783413 1969
25
Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. 56
5930030 1966
26
Partial and complete agenesis or malformation of the sacrum with associated anomalies; etiologic and clinical study with special reference to heredity; a preliminary report. 56
13641302 1959
27
Complete Agenesis of Dorsal Wall of Sacral Canal: A Case Report. 61
31720188 2019
28
Surgical Correction of Spinopelvic Instability in Children With Caudal Regression Syndrome. 61
31192092 2019
29
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. 61
30362177 2019
30
Prenatal diagnosis of caudal regression with heterotaxy syndrome: "A mermaid with a broken heart". 61
30685882 2019
31
Prenatal Diagnosis of Enterolithiasis in 20 Cases. 61
30879001 2019
32
Neural Tube Defects in Embryonic Life: Lessons Learned From 340 Early Pregnancy Failures. 61
29665042 2018
33
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review. 61
28875772 2018
34
Pierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes. 61
29651537 2018
35
[Caudal regression syndrome: about a case]. 61
30574238 2018
36
Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. 61
28693936 2017
37
Diagnostic yield of lumbosacral magnetic resonance imaging requested by paediatric urology consultations. 61
28366522 2017
38
Caudal Regression Syndrome with Bilateral Microtia. 61
28969749 2017
39
Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences. 61
28969239 2017
40
Caudal Regression Syndrome with Pressure Ulcers of the Foot: A Case Report. 61
28892975 2017
41
Right-sided InterStim Placement in a Patient With Left Sacral Hypoplasia. 61
28161378 2017
42
A Rare Case of Caudal Regression Syndrome in a Foetus of Non-Diabetic Mother: A Case Report. 61
29657626 2017
43
Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up. 61
30363289 2017
44
Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly. 61
28439323 2017
45
Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome. 61
28124993 2017
46
Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother. 61
28904658 2017
47
Congenital lumbar vertebrae agenesis in a lamb. 61
29326797 2017
48
Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex. 61
29138704 2017
49
Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis. 61
27794580 2017
50
Sacral agenesis: a pilot whole exome sequencing and copy number study. 61
28007035 2016

Variations for Sacral Defect with Anterior Meningocele

ClinVar genetic disease variations for Sacral Defect with Anterior Meningocele:

6 (show top 50) (show all 131) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met)SNV Pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283
2 VANGL1 NM_138959.3(VANGL1):c.715G>A (p.Val239Ile)SNV Likely pathogenic 1346 rs121918218 1:116206792-116206792 1:115664171-115664171
3 VANGL1 NM_138959.3(VANGL1):c.*1545A>GSNV Uncertain significance 292039 rs117337677 1:116235545-116235545 1:115692924-115692924
4 VANGL1 NM_138959.3(VANGL1):c.*2107A>GSNV Uncertain significance 292047 rs886045130 1:116236107-116236107 1:115693486-115693486
5 VANGL1 NM_138959.3(VANGL1):c.*2695C>ASNV Uncertain significance 292058 rs540290490 1:116236695-116236695 1:115694074-115694074
6 VANGL1 NM_138959.3(VANGL1):c.*2865A>GSNV Uncertain significance 292059 rs114921471 1:116236865-116236865 1:115694244-115694244
7 VANGL1 NM_138959.3(VANGL1):c.*2992G>ASNV Uncertain significance 292060 rs886045135 1:116236992-116236992 1:115694371-115694371
8 VANGL1 NM_138959.3(VANGL1):c.765C>T (p.Val255=)SNV Uncertain significance 292008 rs368722418 1:116206842-116206842 1:115664221-115664221
9 VANGL1 NM_138959.3(VANGL1):c.812+9C>TSNV Uncertain significance 292009 rs370321176 1:116206898-116206898 1:115664277-115664277
10 VANGL1 NM_138959.3(VANGL1):c.*301G>CSNV Uncertain significance 292019 rs193075321 1:116234301-116234301 1:115691680-115691680
11 VANGL1 NM_138959.3(VANGL1):c.*483A>GSNV Uncertain significance 292024 rs886045122 1:116234483-116234483 1:115691862-115691862
12 VANGL1 NM_138959.3(VANGL1):c.*929G>ASNV Uncertain significance 292030 rs886045123 1:116234929-116234929 1:115692308-115692308
13 VANGL1 NM_138959.3(VANGL1):c.*3289A>GSNV Uncertain significance 292063 rs886045136 1:116237289-116237289 1:115694668-115694668
14 VANGL1 NM_138959.3(VANGL1):c.*5022T>GSNV Uncertain significance 292081 rs886045145 1:116239022-116239022 1:115696401-115696401
15 VANGL1 NM_138959.3(VANGL1):c.*5413A>CSNV Uncertain significance 292089 rs886045146 1:116239413-116239413 1:115696792-115696792
16 VANGL1 NM_138959.3(VANGL1):c.*5993C>GSNV Uncertain significance 292100 rs886045150 1:116239993-116239993 1:115697372-115697372
17 VANGL1 NM_138959.3(VANGL1):c.*6128T>CSNV Uncertain significance 292104 rs181588954 1:116240128-116240128 1:115697507-115697507
18 VANGL1 NM_138959.3(VANGL1):c.-145G>TSNV Uncertain significance 292000 rs559438343 1:116184700-116184700 1:115642079-115642079
19 VANGL1 NM_138959.3(VANGL1):c.-24C>TSNV Uncertain significance 292002 rs886045118 1:116194011-116194011 1:115651390-115651390
20 VANGL1 NM_138959.3(VANGL1):c.114C>T (p.Asp38=)SNV Uncertain significance 292003 rs201840785 1:116202304-116202304 1:115659683-115659683
21 VANGL1 NM_138959.3(VANGL1):c.*47G>TSNV Uncertain significance 292014 rs190792695 1:116234047-116234047 1:115691426-115691426
22 VANGL1 NM_138959.3(VANGL1):c.*634T>CSNV Uncertain significance 292026 rs546423374 1:116234634-116234634 1:115692013-115692013
23 VANGL1 NM_138959.3(VANGL1):c.*1043A>GSNV Uncertain significance 292033 rs150705915 1:116235043-116235043 1:115692422-115692422
24 VANGL1 NM_138959.3(VANGL1):c.*1456T>CSNV Uncertain significance 292036 rs886045126 1:116235456-116235456 1:115692835-115692835
25 VANGL1 NM_138959.3(VANGL1):c.*1772A>GSNV Uncertain significance 292043 rs114033235 1:116235772-116235772 1:115693151-115693151
26 VANGL1 NM_138959.3(VANGL1):c.*2099G>TSNV Uncertain significance 292046 rs886045129 1:116236099-116236099 1:115693478-115693478
27 VANGL1 NM_138959.3(VANGL1):c.*3407dupduplication Uncertain significance 292065 rs752251154 1:116237407-116237407 1:115694786-115694786
28 VANGL1 NM_138959.3(VANGL1):c.*3598A>GSNV Uncertain significance 292069 rs187286147 1:116237598-116237598 1:115694977-115694977
29 VANGL1 NM_138959.3(VANGL1):c.*3666G>ASNV Uncertain significance 292070 rs886045138 1:116237666-116237666 1:115695045-115695045
30 VANGL1 NM_138959.3(VANGL1):c.*4463A>GSNV Uncertain significance 292074 rs886045142 1:116238463-116238463 1:115695842-115695842
31 VANGL1 NM_138959.3(VANGL1):c.*4840T>CSNV Uncertain significance 292079 rs886045144 1:116238840-116238840 1:115696219-115696219
32 VANGL1 NM_138959.3(VANGL1):c.*5267G>TSNV Uncertain significance 292086 rs75064936 1:116239267-116239267 1:115696646-115696646
33 VANGL1 NM_138959.3(VANGL1):c.*5441_*5442TC[3]short repeat Uncertain significance 292090 rs886045147 1:116239447-116239448 1:115696826-115696827
34 VANGL1 NM_138959.3(VANGL1):c.*5639_*5640deldeletion Uncertain significance 292094 rs886045148 1:116239639-116239640 1:115697018-115697019
35 VANGL1 NM_138959.3(VANGL1):c.*5929G>ASNV Uncertain significance 292099 rs886045149 1:116239929-116239929 1:115697308-115697308
36 VANGL1 NM_138959.3(VANGL1):c.*6084C>GSNV Uncertain significance 292103 rs536289395 1:116240084-116240084 1:115697463-115697463
37 VANGL1 NM_138959.3(VANGL1):c.*89_*91TTC[2]short repeat Uncertain significance 292016 rs746915495 1:116234095-116234097 1:115691474-115691476
38 VANGL1 NM_138959.3(VANGL1):c.*340C>GSNV Uncertain significance 292021 rs886045121 1:116234340-116234340 1:115691719-115691719
39 VANGL1 NM_138959.3(VANGL1):c.-247_-245CGG[6]short repeat Uncertain significance 291996 rs886045116 1:116184610-116184612 1:115641989-115641991
40 VANGL1 NM_138959.3(VANGL1):c.*758G>ASNV Uncertain significance 292029 rs546932643 1:116234758-116234758 1:115692137-115692137
41 VANGL1 NM_138959.3(VANGL1):c.*932dupduplication Uncertain significance 292031 rs886045124 1:116234932-116234932 1:115692311-115692311
42 VANGL1 NM_138959.3(VANGL1):c.*1483C>TSNV Uncertain significance 292037 rs886045127 1:116235483-116235483 1:115692862-115692862
43 VANGL1 NM_138959.3(VANGL1):c.*1516A>CSNV Uncertain significance 292038 rs886045128 1:116235516-116235516 1:115692895-115692895
44 VANGL1 NM_138959.3(VANGL1):c.*1970C>ASNV Uncertain significance 292044 rs746455152 1:116235970-116235970 1:115693349-115693349
45 VANGL1 NM_138959.3(VANGL1):c.*2329C>TSNV Uncertain significance 292050 rs188964296 1:116236329-116236329 1:115693708-115693708
46 VANGL1 NM_138959.3(VANGL1):c.*2336A>GSNV Uncertain significance 292051 rs148944333 1:116236336-116236336 1:115693715-115693715
47 VANGL1 NM_138959.3(VANGL1):c.*2542C>TSNV Uncertain significance 292056 rs886045134 1:116236542-116236542 1:115693921-115693921
48 VANGL1 NM_138959.3(VANGL1):c.*3123A>GSNV Uncertain significance 292062 rs143712039 1:116237123-116237123 1:115694502-115694502
49 VANGL1 NM_138959.3(VANGL1):c.*4846G>CSNV Uncertain significance 292080 rs868558700 1:116238846-116238846 1:115696225-115696225
50 VANGL1 NM_138959.3(VANGL1):c.*5267G>ASNV Uncertain significance 292085 rs75064936 1:116239267-116239267 1:115696646-115696646

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

73
# Symbol AA change Variation ID SNP ID
1 VANGL1 p.Val239Ile VAR_035209 rs121918218

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 8.8 VANGL1 RYR1 FUZ

Sources for Sacral Defect with Anterior Meningocele

3 CDC
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