SDAM
MCID: SCR020
MIFTS: 59

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 57 12 20 43 72
Caudal Regression Syndrome 57 12 73 20 43 29 13 6 15 39
Caudal Regression Sequence 12 20 43 58 29 6
Sacral Agenesis 12 73 20 43 6
Caudal Dysgenesis Syndrome 12 43 6 70
Sacral Agenesis Syndrome 20 58 70
Sacral Regression Syndrome 20 58
Caudal Dysplasia Sequence 12 43
Caudal Dysplasia 20 58
Sirenomelia 58 70
Sdam 57 72
Sacral Defect and Anterior Sacral Meningocele 70
Rudd Klimek Syndrome 70

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®:

57 (Updated 05-Apr-2021)
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

MedlinePlus Genetics : 43 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 renal hypodysplasia/aplasia 1 and anus, imperforate, 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), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, spinal cord and testes, and related phenotypes are bowel incontinence and decreased muscle mass

Disease Ontology : 12 A physical disorder that is characterized by impairment of the development of the lower half of the body.

GARD : 20 Caudal regression sequence (CRS) affects the development of the lower (caudal) half of the body. It can impact the development of the lower back, spinal cord, and lower limbs. The kidneys, bladder, digestive tract, and genitalia may also be affected. CRS occurs during fetal development and is present at birth. The features and severity vary from person to person. In some cases, CRS is severe and can be life-threatening. In other cases, people with CRS may have problems with bowel and bladder control and be unable to walk. CRS is not known to affect the development of the brain and intelligence is generally average. The cause of CRS is unknown, and is thought to be due to a combination of genetic and environmental factors. Maternal diabetes, exposure to retinoic acid, and disorders of blood flow are thought to increase the chance for a woman to have a baby with CRS, but most babies with CRS are born to women without any known risk factor. CRS is diagnosed based on the features. Other conditions may need to be excluded before a diagnosis of CRS can be made. Treatment is focused on managing the symptoms and usually includes surgery, physical therapy, and devices to help with sitting and walking.

OMIM® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 202)
# Related Disease Score Top Affiliating Genes
1 renal hypodysplasia/aplasia 1 30.5 SHH HOXD13 GDF11
2 anus, imperforate 30.5 SHH MNX1 HOXD13 CYP26A1
3 tethered spinal cord syndrome 30.4 VANGL1 MNX1
4 alagille syndrome 1 30.2 MESP2 LFNG HES7
5 spina bifida occulta 30.1 VANGL1 MESP2 HES7 FUZ
6 neural tube defects 30.1 VANGL1 SHH MNX1 MESP2 ISL1 FUZ
7 teratoma 30.1 SHH MNX1 CDX2
8 vacterl association 30.1 SHH PCSK5 HOXD13
9 meningocele 30.1 VANGL1 TCTE1 MNX1 MESP2 HES7 FUZ
10 clubfoot 30.1 VANGL1 RYR1 HOXD13
11 currarino syndrome 30.0 VANGL1 SHH PCSK5 MNX1 HOXD13 GDF11
12 klippel-feil syndrome 30.0 TBX6 MESP2 LFNG HES7
13 scoliosis 29.9 VANGL1 TBX6 RYR1 MESP2 LFNG HES7
14 sacral agenesis with vertebral anomalies 11.8
15 holoprosencephaly-caudal dysgenesis syndrome 11.2
16 selig benacerraf greene syndrome 11.0
17 caudal regression-sirenomelia spectrum 11.0
18 sirenomelia 10.5
19 total spina bifida aperta 10.4 VANGL1 FUZ
20 cervicothoracic spina bifida aperta 10.4 VANGL1 FUZ
21 cervical spina bifida aperta 10.4 VANGL1 FUZ
22 lumbosacral spina bifida aperta 10.4 VANGL1 FUZ
23 thoracolumbosacral spina bifida aperta 10.4 VANGL1 FUZ
24 upper thoracic spina bifida aperta 10.4 VANGL1 FUZ
25 total spina bifida cystica 10.4 VANGL1 FUZ
26 thoracolumbosacral spina bifida cystica 10.4 VANGL1 FUZ
27 neurogenic bladder 10.4
28 lumbosacral spina bifida cystica 10.4 VANGL1 FUZ
29 cervical spina bifida cystica 10.4 VANGL1 FUZ
30 cervicothoracic spina bifida cystica 10.4 VANGL1 FUZ
31 upper thoracic spina bifida cystica 10.4 VANGL1 FUZ
32 acheiropody 10.3 SHH MNX1
33 breast neuroendocrine neoplasm 10.2 ISL1 CDX2
34 lipomatosis, multiple 10.2
35 pleomorphic lipoma 10.2
36 gestational diabetes 10.2
37 anencephaly 10.2
38 physical disorder 10.2 VANGL1 SHH MNX1
39 spondylocostal dysostosis 5 10.2 TBX6 MESP2 HES7
40 bladder exstrophy-epispadias-cloacal exstrophy complex 10.2 SHH ISL1
41 anal fistula 10.2
42 constipation 10.2
43 esophageal atresia 10.2
44 spondylocostal dysostosis 1, autosomal recessive 10.2 MESP2 LFNG HES7
45 hajdu-cheney syndrome 10.2 MESP2 LFNG HES7
46 anorectal anomalies 10.2
47 diastematomyelia 10.2
48 preaxial hallucal polydactyly 10.2
49 holoprosencephaly 10.2
50 rectal duplication 10.2

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 abnormal vertebral segmentation and fusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0005640
4 maternal diabetes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009800
5 hypoplastic vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0008479
6 aplasia/hypoplasia of the sacrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0008517
7 abnormality of the wing of the ilium 58 31 hallmark (90%) Very frequent (99-80%) HP:0011867
8 impulsivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100710
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 anal atresia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002023
15 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
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 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
21 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
22 arrhinencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002139
23 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
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 renal hypoplasia/aplasia 58 Very frequent (99-80%)
33 back pain 31 HP:0003418
34 meningocele 31 HP:0002435
35 tracheoesophageal fistula 58 Frequent (79-30%)
36 spina bifida 58 Frequent (79-30%)
37 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)
38 abnormality of the urinary system 58 Very frequent (99-80%)
39 meningitis 31 HP:0001287
40 headache 31 HP:0002315
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 sacral lipoma 31 HP:0012033
46 neurogenic bladder 31 HP:0000011
47 dermoid cyst 31 HP:0025247
48 rectal abscess 31 HP:0005224
49 hemisacrum 31 HP:0009790
50 anterior sacral meningocele 31 HP:0007293

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Sacral Defect with Anterior Meningocele:


back pain; headache

MGI Mouse Phenotypes related to Sacral Defect with Anterior Meningocele:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 ACD CDX2 CYP26A1 FUZ GDF11 HES7
2 cardiovascular system MP:0005385 10.38 CDX2 CYP26A1 FUZ GDF11 ISL1 LFNG
3 cellular MP:0005384 10.37 ACD CDX2 FUZ GDF11 ISL1 MESP2
4 embryo MP:0005380 10.34 CDX2 CYP26A1 FUZ GDF11 HES7 HOXD13
5 mortality/aging MP:0010768 10.34 ACD CDX2 CYP26A1 FUZ GDF11 HES7
6 limbs/digits/tail MP:0005371 10.33 ACD CDX2 CYP26A1 FUZ GDF11 HES7
7 digestive/alimentary MP:0005381 10.31 ACD CDX2 CYP26A1 FUZ GDF11 HOXD13
8 endocrine/exocrine gland MP:0005379 10.21 ACD CDX2 FUZ GDF11 HOXD13 ISL1
9 nervous system MP:0003631 10.11 CYP26A1 FUZ GDF11 ISL1 LFNG MESP2
10 craniofacial MP:0005382 10.09 ACD FUZ GDF11 ISL1 PCSK5 RYR1
11 muscle MP:0005369 10.01 FUZ GDF11 HOXD13 ISL1 MESP2 MNX1
12 hearing/vestibular/ear MP:0005377 9.95 ACD FUZ ISL1 LFNG SHH VANGL1
13 no phenotypic analysis MP:0003012 9.87 CYP26A1 HOXD13 ISL1 LFNG MESP2 PCSK5
14 renal/urinary system MP:0005367 9.86 ACD CYP26A1 GDF11 HOXD13 ISL1 PCSK5
15 reproductive system MP:0005389 9.85 ACD CDX2 CYP26A1 HOXD13 ISL1 LFNG
16 respiratory system MP:0005388 9.56 FUZ GDF11 LFNG MNX1 PCSK5 RYR1
17 skeleton MP:0005390 9.5 CDX2 CYP26A1 FUZ GDF11 HES7 HOXD13

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 Caudal Regression Sequence 29 VANGL1
2 Caudal Regression Syndrome 29

Anatomical Context for Sacral Defect with Anterior Meningocele

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

40
Kidney, Spinal Cord, Testes, Bone, Heart, Brain, Pancreas

Publications for Sacral Defect with Anterior Meningocele

Articles related to Sacral Defect with Anterior Meningocele:

(show top 50) (show all 290)
# Title Authors PMID Year
1
Mutations in VANGL1 associated with neural-tube defects. 6 57
17409324 2007
2
Multidisciplinary management of caudal regression syndrome (26 cases). 61 57
9008829 1996
3
Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. 57 61
7977450 1994
4
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia. 57
25044506 2014
5
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. 57
22002878 2011
6
Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. 57
17963219 2007
7
"Like mother, like son:" hereditary anterior sacral meningocele. Case report and review of the literature. 57
16506502 2006
8
Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. 57
11528505 2001
9
Autosomal dominant sacral agenesis: Currarino syndrome. 57
10922380 2000
10
Involvement of the HLXB9 homeobox gene in Currarino syndrome. 57
10631160 2000
11
Sacral agenesis and caudal spinal cord malformations. 57
8492851 1993
12
Anterior sacral meningocele occurring in one family. An autosomal dominantly inherited condition. 57
2334530 1990
13
The syndrome of caudal dysplasia: a review, including etiologic considerations and evidence of heterogeneity. 57
6393099 1984
14
A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. 57
6214946 1982
15
Familial caudal regression anomalad and maternal diabetes. 57
469880 1979
16
Caudal regression anomalad (sacral agenesis) in siblings. 57
657575 1978
17
Hereditary defect of the sacrum. 57
1150242 1975
18
[Familial sacro-coccygeal agenesis. Apropos of 6 cases in 2 families]. 57
4610092 1974
19
Anterior sacral meningocele occurring in a family. 57
4707300 1973
20
Hereditary sacral agenesis associated with presacral tumours. 57
4700226 1973
21
Anterior sacral meningocele, anal canal duplication cyst and covered anus occurring in one family. 57
5505693 1970
22
[Anterior sacral meningocele. Review of the literature and presentation of a case]. 57
5401299 1969
23
Sacral agenesis. 57
4891160 1969
24
Hereditary defect of the sacrum and coccyx with anterior sacral meningocele. 57
5783413 1969
25
Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. 57
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. 57
13641302 1959
27
Caudal Regression Syndrome Group 2. 61
32458335 2021
28
The utility of ultrasonography in anesthesia management in 3 cases of caudal regression syndrome. 61
33269503 2021
29
Currarino syndrome - a pre and post natal diagnosis correlation: case report and literature review. 61
33618589 2021
30
Caudal regression syndrome and a pelvic kidney: case report. 61
32647073 2020
31
A Rare Case of Caudal Regression Syndrome. 61
33342910 2020
32
Caudal Regression Syndrome. 61
33158301 2020
33
A rare report on 18-month survival of a dog born with multiple anomalies including atresia ani. 61
33172785 2020
34
Caudal Regression Syndrome (Spinal Thoraco-lumbo-sacro-coccygeal Agenesis). 61
32683002 2020
35
Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9. 61
32550955 2020
36
Caudal Regression Syndrome-A Review Focusing on Genetic Associations. 61
32200015 2020
37
Vesicocutaneous fistula: continent vesicostomy, an easier route for comfortable clean intermittent catheterization. 61
32171665 2020
38
Pregnancy in a woman with sacral agenesis from prenatal counseling to delivery: A case report. 61
32141145 2020
39
Sirenomelia, case report and review of the literature. 61
32216506 2020
40
Correction: Targeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats. 61
31945126 2020
41
Clinical and Radiological Characterization of an Infant with Caudal Regression Syndrome Type III. 61
33194235 2020
42
Sirenomelia (Mermaid Syndrome): A Case Report. 61
32525213 2020
43
Complete Agenesis of Dorsal Wall of Sacral Canal: A Case Report. 61
31720188 2019
44
Surgical Correction of Spinopelvic Instability in Children With Caudal Regression Syndrome. 61
31192092 2019
45
Prenatal diagnosis of caudal regression with heterotaxy syndrome: "A mermaid with a broken heart". 61
30685882 2019
46
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. 61
30362177 2019
47
Prenatal Diagnosis of Enterolithiasis in 20 Cases. 61
30879001 2019
48
Neural Tube Defects in Embryonic Life: Lessons Learned From 340 Early Pregnancy Failures. 61
29665042 2018
49
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review. 61
28875772 2018
50
Pierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes. 61
29651537 2018

Variations for Sacral Defect with Anterior Meningocele

ClinVar genetic disease variations for Sacral Defect with Anterior Meningocele:

6 (show top 50) (show all 206)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VANGL1 NM_138959.3(VANGL1):c.715G>A (p.Val239Ile) SNV Pathogenic 1346 rs121918218 GRCh37: 1:116206792-116206792
GRCh38: 1:115664171-115664171
2 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Likely pathogenic 12977 rs118192177 GRCh37: 19:38986923-38986923
GRCh38: 19:38496283-38496283
3 CDX2 NM_001265.6(CDX2):c.940T>C (p.Ter314Arg) SNV Likely pathogenic 812557 rs1593181774 GRCh37: 13:28537254-28537254
GRCh38: 13:27963117-27963117
4 VANGL1 NM_138959.3(VANGL1):c.453G>A (p.Gly151=) SNV Uncertain significance 873558 GRCh37: 1:116206530-116206530
GRCh38: 1:115663909-115663909
5 VANGL1 NM_138959.3(VANGL1):c.*1748C>T SNV Uncertain significance 873797 GRCh37: 1:116235748-116235748
GRCh38: 1:115693127-115693127
6 VANGL1 NM_138959.3(VANGL1):c.*2504A>G SNV Uncertain significance 873852 GRCh37: 1:116236504-116236504
GRCh38: 1:115693883-115693883
7 VANGL1 NM_138959.3(VANGL1):c.*3267C>T SNV Uncertain significance 873905 GRCh37: 1:116237267-116237267
GRCh38: 1:115694646-115694646
8 VANGL1 NM_138959.3(VANGL1):c.*3273A>G SNV Uncertain significance 873906 GRCh37: 1:116237273-116237273
GRCh38: 1:115694652-115694652
9 VANGL1 NM_138959.3(VANGL1):c.*3290A>G SNV Uncertain significance 873907 GRCh37: 1:116237290-116237290
GRCh38: 1:115694669-115694669
10 VANGL1 NM_138959.3(VANGL1):c.*3844A>G SNV Uncertain significance 873967 GRCh37: 1:116237844-116237844
GRCh38: 1:115695223-115695223
11 VANGL1 NM_138959.3(VANGL1):c.*4041T>C SNV Uncertain significance 873968 GRCh37: 1:116238041-116238041
GRCh38: 1:115695420-115695420
12 VANGL1 NM_138959.3(VANGL1):c.*5036G>A SNV Uncertain significance 874026 GRCh37: 1:116239036-116239036
GRCh38: 1:115696415-115696415
13 VANGL1 NM_138959.3(VANGL1):c.*6794C>A SNV Uncertain significance 874140 GRCh37: 1:116240794-116240794
GRCh38: 1:115698173-115698173
14 VANGL1 NM_138959.3(VANGL1):c.*6837A>G SNV Uncertain significance 874141 GRCh37: 1:116240837-116240837
GRCh38: 1:115698216-115698216
15 VANGL1 NM_138959.3(VANGL1):c.1201A>C (p.Met401Leu) SNV Uncertain significance 874610 GRCh37: 1:116228035-116228035
GRCh38: 1:115685414-115685414
16 VANGL1 NM_138959.3(VANGL1):c.1210G>T (p.Ala404Ser) SNV Uncertain significance 874611 GRCh37: 1:116228044-116228044
GRCh38: 1:115685423-115685423
17 VANGL1 NM_138959.3(VANGL1):c.*1402C>G SNV Uncertain significance 874702 GRCh37: 1:116235402-116235402
GRCh38: 1:115692781-115692781
18 VANGL1 NM_138959.3(VANGL1):c.*2009C>T SNV Uncertain significance 874758 GRCh37: 1:116236009-116236009
GRCh38: 1:115693388-115693388
19 VANGL1 NM_138959.3(VANGL1):c.*2592T>C SNV Uncertain significance 874802 GRCh37: 1:116236592-116236592
GRCh38: 1:115693971-115693971
20 VANGL1 NM_138959.3(VANGL1):c.*2708G>A SNV Uncertain significance 874803 GRCh37: 1:116236708-116236708
GRCh38: 1:115694087-115694087
21 VANGL1 NM_138959.3(VANGL1):c.*4209A>G SNV Uncertain significance 873969 GRCh37: 1:116238209-116238209
GRCh38: 1:115695588-115695588
22 VANGL1 NM_138959.3(VANGL1):c.*4254A>G SNV Uncertain significance 874904 GRCh37: 1:116238254-116238254
GRCh38: 1:115695633-115695633
23 VANGL1 NM_138959.3(VANGL1):c.*4272T>G SNV Uncertain significance 874905 GRCh37: 1:116238272-116238272
GRCh38: 1:115695651-115695651
24 VANGL1 NM_138959.3(VANGL1):c.*4347C>T SNV Uncertain significance 874906 GRCh37: 1:116238347-116238347
GRCh38: 1:115695726-115695726
25 VANGL1 NM_138959.3(VANGL1):c.*5351G>A SNV Uncertain significance 292087 rs762453158 GRCh37: 1:116239351-116239351
GRCh38: 1:115696730-115696730
26 VANGL1 NM_138959.3(VANGL1):c.612C>T (p.Tyr204=) SNV Uncertain significance 875484 GRCh37: 1:116206689-116206689
GRCh38: 1:115664068-115664068
27 VANGL1 NM_138959.3(VANGL1):c.619C>T (p.Arg207Cys) SNV Uncertain significance 875485 GRCh37: 1:116206696-116206696
GRCh38: 1:115664075-115664075
28 VANGL1 NM_138959.3(VANGL1):c.681G>A (p.Val227=) SNV Uncertain significance 875486 GRCh37: 1:116206758-116206758
GRCh38: 1:115664137-115664137
29 VANGL1 NM_138959.3(VANGL1):c.759G>C (p.Gln253His) SNV Uncertain significance 875487 GRCh37: 1:116206836-116206836
GRCh38: 1:115664215-115664215
30 VANGL1 NM_138959.3(VANGL1):c.*3720T>C SNV Uncertain significance 292071 rs886045139 GRCh37: 1:116237720-116237720
GRCh38: 1:115695099-115695099
31 VANGL1 NM_138959.3(VANGL1):c.*3666G>A SNV Uncertain significance 292070 rs886045138 GRCh37: 1:116237666-116237666
GRCh38: 1:115695045-115695045
32 VANGL1 NM_138959.3(VANGL1):c.*4846G>C SNV Uncertain significance 292080 rs868558700 GRCh37: 1:116238846-116238846
GRCh38: 1:115696225-115696225
33 VANGL1 NM_138959.3(VANGL1):c.*6640G>A SNV Uncertain significance 292111 rs746958675 GRCh37: 1:116240640-116240640
GRCh38: 1:115698019-115698019
34 VANGL1 NM_138959.3(VANGL1):c.*2992G>A SNV Uncertain significance 292060 rs886045135 GRCh37: 1:116236992-116236992
GRCh38: 1:115694371-115694371
35 VANGL1 NM_138959.3(VANGL1):c.*6128T>C SNV Uncertain significance 292104 rs181588954 GRCh37: 1:116240128-116240128
GRCh38: 1:115697507-115697507
36 VANGL1 NM_138959.3(VANGL1):c.*1749G>A SNV Uncertain significance 292041 rs3811010 GRCh37: 1:116235749-116235749
GRCh38: 1:115693128-115693128
37 VANGL1 NM_138959.3(VANGL1):c.*5267G>T SNV Uncertain significance 292086 rs75064936 GRCh37: 1:116239267-116239267
GRCh38: 1:115696646-115696646
38 VANGL1 NM_138959.3(VANGL1):c.*340C>G SNV Uncertain significance 292021 rs886045121 GRCh37: 1:116234340-116234340
GRCh38: 1:115691719-115691719
39 VANGL1 NM_138959.3(VANGL1):c.*1970C>A SNV Uncertain significance 292044 rs746455152 GRCh37: 1:116235970-116235970
GRCh38: 1:115693349-115693349
40 VANGL1 NM_138959.3(VANGL1):c.*1456T>C SNV Uncertain significance 292036 rs886045126 GRCh37: 1:116235456-116235456
GRCh38: 1:115692835-115692835
41 VANGL1 NM_138959.3(VANGL1):c.*6602C>T SNV Uncertain significance 292110 rs886045153 GRCh37: 1:116240602-116240602
GRCh38: 1:115697981-115697981
42 VANGL1 NM_138959.3(VANGL1):c.*5351G>A SNV Uncertain significance 292087 rs762453158 GRCh37: 1:116239351-116239351
GRCh38: 1:115696730-115696730
43 VANGL1 NM_138959.3(VANGL1):c.*5993C>G SNV Uncertain significance 292100 rs886045150 GRCh37: 1:116239993-116239993
GRCh38: 1:115697372-115697372
44 VANGL1 NM_138959.3(VANGL1):c.*6474T>G SNV Uncertain significance 292109 rs886045152 GRCh37: 1:116240474-116240474
GRCh38: 1:115697853-115697853
45 VANGL1 NM_138959.3(VANGL1):c.*2099G>T SNV Uncertain significance 292046 rs886045129 GRCh37: 1:116236099-116236099
GRCh38: 1:115693478-115693478
46 VANGL1 NM_138959.3(VANGL1):c.*5929G>A SNV Uncertain significance 292099 rs886045149 GRCh37: 1:116239929-116239929
GRCh38: 1:115697308-115697308
47 VANGL1 NM_138959.3(VANGL1):c.*3123A>G SNV Uncertain significance 292062 rs143712039 GRCh37: 1:116237123-116237123
GRCh38: 1:115694502-115694502
48 VANGL1 NM_138959.3(VANGL1):c.*929G>A SNV Uncertain significance 292030 rs886045123 GRCh37: 1:116234929-116234929
GRCh38: 1:115692308-115692308
49 VANGL1 NM_138959.3(VANGL1):c.*5132G>T SNV Uncertain significance 292083 rs549041171 GRCh37: 1:116239132-116239132
GRCh38: 1:115696511-115696511
50 VANGL1 NM_138959.3(VANGL1):c.914A>T (p.His305Leu) SNV Uncertain significance 292010 rs886045119 GRCh37: 1:116225086-116225086
GRCh38: 1:115682465-115682465

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.72 VANGL1 SHH LFNG CDX2
2 11.38 TBX6 SHH ISL1 CDX2
3 11.33 SHH MNX1 ISL1
4 9.97 TBX6 MESP2 LFNG HES7

GO Terms for Sacral Defect with Anterior Meningocele

Cellular components related to Sacral Defect with Anterior Meningocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.17 TBX6 MNX1 MESP2 ISL1 HOXD13 HES7

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.1 TBX6 MNX1 MESP2 ISL1 HOXD13 HES7
2 regulation of transcription, DNA-templated GO:0006355 10.01 TBX6 SHH MNX1 MESP2 ISL1 HOXD13
3 central nervous system development GO:0007417 9.76 TBX6 SHH MNX1
4 skeletal system development GO:0001501 9.75 HOXD13 HES7 GDF11
5 kidney development GO:0001822 9.72 SHH PCSK5 CYP26A1
6 limb morphogenesis GO:0035108 9.57 PCSK5 HOXD13
7 spinal cord motor neuron differentiation GO:0021522 9.54 SHH ISL1
8 positive regulation of cell differentiation GO:0045597 9.54 SHH ISL1 CDX2
9 male genitalia development GO:0030539 9.52 SHH HOXD13
10 prostate gland development GO:0030850 9.51 SHH HOXD13
11 mesoderm development GO:0007498 9.5 TBX6 HES7 GDF11
12 somite rostral/caudal axis specification GO:0032525 9.49 TBX6 MESP2
13 respiratory tube development GO:0030323 9.48 SHH PCSK5
14 spinal cord motor neuron cell fate specification GO:0021520 9.46 MNX1 ISL1
15 pattern specification process GO:0007389 9.46 SHH LFNG HOXD13 CDX2
16 regulation of somitogenesis GO:0014807 9.43 LFNG CDX2
17 pancreas development GO:0031016 9.43 SHH ISL1 GDF11
18 anterior/posterior pattern specification GO:0009952 9.43 SHH PCSK5 HOXD13 HES7 GDF11 CDX2
19 multicellular organism development GO:0007275 9.36 VANGL1 TBX6 SHH RYR1 MESP2 LFNG

Molecular functions related to Sacral Defect with Anterior Meningocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.76 TBX6 MNX1 MESP2 ISL1 HOXD13 HES7
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 TBX6 MESP2 ISL1 HOXD13 HES7 CDX2
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 TBX6 MNX1 MESP2 ISL1 HOXD13 HES7
4 sequence-specific double-stranded DNA binding GO:1990837 9.17 TBX6 MNX1 MESP2 ISL1 HOXD13 HES7

Sources for Sacral Defect with Anterior Meningocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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