SDAM
MCID: SCR020
MIFTS: 48

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 25 74 29
Caudal Regression Syndrome 57 75 25 13 6 40
Caudal Dysgenesis Syndrome 25 6 72
Caudal Regression Sequence 25 59
Sacral Agenesis Syndrome 59 72
Sacral Agenesis 25 6
Sirenomelia 59 72
Sdam 57 74
Sacral Defect and Anterior Sacral Meningocele 72
Sacral Regression Syndrome 59
Caudal Dysplasia Sequence 25
Rudd Klimek Syndrome 72
Caudal Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
sacral defect with anterior meningocele:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600145
MESH via Orphanet 45 C538595
ICD10 via Orphanet 34 Q76.0 Q87.2
UMLS via Orphanet 73 C0037205 C0300948 C0344490 more
UMLS 72 C0037205 C1838568 C1838569 more

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 neural tube defects and sacral agenesis with vertebral anomalies, 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 bone, and related phenotypes are absence of the sacrum and hypertension

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)

UniProtKB/Swiss-Prot : 74 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 : 75 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:

(showing 191, show less)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 29.4 VANGL1 FUZ
2 sacral agenesis with vertebral anomalies 12.9
3 holoprosencephaly-caudal dysgenesis syndrome 12.4
4 caudal regression-sirenomelia spectrum 12.3
5 caudal regression sequence 11.7
6 selig benacerraf greene syndrome 11.6
7 sirenomelia 10.4
8 anencephaly 10.4
9 esophageal atresia 10.3
10 acute cystitis 10.3
11 renal hypodysplasia/aplasia 1 10.2
12 neurogenic bladder 10.2
13 tracheoesophageal fistula with or without esophageal atresia 10.2
14 craniorachischisis 10.2
15 anus, imperforate 10.2
16 rare surgical neurologic disease 10.2
17 gestational diabetes 10.2
18 hydrocephalus 10.1
19 congenital hydrocephalus 10.1
20 posterior meningocele 10.1
21 anal fistula 10.1
22 meningocele 10.1
23 constipation 10.1
24 lipomatosis, multiple 10.1
25 diastematomyelia 10.1
26 preaxial hallucal polydactyly 10.1
27 pleomorphic lipoma 10.1
28 hyperglycemia 10.1
29 holoprosencephaly 10.1
30 split spinal cord malformation 10.1
31 rectal duplication 10.1
32 cleft palate, isolated 10.1
33 vacterl association with hydrocephalus 10.1
34 intestinal atresia 10.1
35 47,xyy 10.1
36 limb-body wall complex 10.1
37 vacterl association 10.0
38 microcephaly 10.0
39 tethered cord syndrome 10.0
40 anorectal anomalies 10.0
41 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
42 currarino syndrome 10.0
43 syringomyelia, noncommunicating isolated 10.0
44 pierre robin syndrome 10.0
45 wilms tumor 5 10.0
46 polydactyly 10.0
47 intraocular pressure quantitative trait locus 10.0
48 scoliosis 10.0
49 omphalocele 10.0
50 syringomyelia 10.0
51 paraplegia 10.0
52 talipes equinovarus 10.0
53 myelocystocele 10.0
54 alobar holoprosencephaly 10.0
55 atresia of urethra 10.0
56 polydactyly, postaxial, type a1 9.9
57 duodenal atresia 9.9
58 hydrocephalus, congenital, 1 9.9
59 neuroblastoma 1 9.9
60 exstrophy of bladder 9.9
61 retinitis pigmentosa 11 9.9
62 cyanosis, transient neonatal 9.9
63 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
64 hypogonadotropic hypogonadism 9.9
65 respiratory failure 9.9
66 chlamydia 9.9
67 olivopontocerebellar atrophy 9.9
68 infertility 9.9
69 skin tag 9.9
70 dextrocardia 9.9
71 hypoplastic left heart syndrome 9.9
72 acardia 9.9
73 double inferior vena cava 9.9
74 exencephaly 9.9
75 pentalogy of cantrell 9.9
76 transposition of the great arteries 9.9
77 triploidy 9.9
78 total spina bifida aperta 9.9 VANGL1 FUZ
79 cervicothoracic spina bifida aperta 9.9 VANGL1 FUZ
80 cervical spina bifida aperta 9.9 VANGL1 FUZ
81 lumbosacral spina bifida aperta 9.9 VANGL1 FUZ
82 klippel-feil syndrome 1, autosomal dominant 9.9
83 coloboma of macula 9.9
84 medulloblastoma 9.9
85 hemifacial microsomia 9.9
86 nephrolithiasis, calcium oxalate 9.9
87 vater/vacterl association 9.9
88 enterocolitis 9.9
89 neu-laxova syndrome 1 9.9
90 tibial hemimelia 9.9
91 lipomyelomeningocele 9.9
92 microvascular complications of diabetes 5 9.9
93 myelodysplastic syndrome 9.9
94 exanthem 9.9
95 cerebellar medulloblastoma 9.9
96 cloacal exstrophy 9.9
97 renal hypertension 9.9
98 low compliance bladder 9.9
99 hereditary spherocytosis 9.9
100 hyperostosis 9.9
101 bladder disease 9.9
102 hydranencephaly 9.9
103 end stage renal failure 9.9
104 hypopituitarism 9.9
105 bacterial meningitis 9.9
106 craniofacial microsomia 9.9
107 amniotic band syndrome 9.9
108 chromosomal triplication 9.9
109 chromosome 19q duplication 9.9
110 growth hormone deficiency 9.9
111 ring chromosome 7 9.9
112 sacrococcygeal teratoma 9.9
113 tracheoesophageal fistula 9.9
114 hydromyelia 9.9
115 bicornuate uterus 9.9
116 cerebral malformation 9.9
117 hemimelia 9.9
118 spina bifida aperta 9.9
119 ring chromosome 9.9
120 renal dysplasia 9.9
121 thoracolumbosacral spina bifida aperta 9.9 VANGL1 FUZ
122 axial mesodermal dysplasia spectrum 9.9
123 upper thoracic spina bifida aperta 9.9 VANGL1 FUZ
124 coxa vara 9.9
125 hair whorl 9.9
126 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
127 pancreas, annular 9.9
128 pelvic organ prolapse 9.9
129 vesicoureteral reflux 1 9.9
130 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
131 williams-beuren syndrome 9.9
132 wilms tumor 1 9.9
133 cryptorchidism, unilateral or bilateral 9.9
134 diabetes mellitus, insulin-dependent 9.9
135 gastroschisis 9.9
136 corpus callosum, partial agenesis of, x-linked 9.9
137 maturity-onset diabetes of the young 9.9
138 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
139 caudal duplication anomaly 9.9
140 barrett esophagus 9.9
141 leptin deficiency or dysfunction 9.9
142 alkuraya-kucinskas syndrome 9.9
143 ptosis 9.9
144 congenital ptosis 9.9
145 myelomeningocele 9.9
146 spina bifida occulta 9.9
147 renal hypoplasia 9.9
148 klippel-feil syndrome 9.9
149 microphthalmia 9.9
150 juvenile glaucoma 9.9
151 hypospadias 9.9
152 hydronephrosis 9.9
153 clubfoot 9.9
154 detrusor sphincter dyssynergia 9.9
155 oligohydramnios 9.9
156 potter's syndrome 9.9
157 cholestasis 9.9
158 biliary atresia 9.9
159 spinal cord lipoma 9.9
160 hypothyroidism 9.9
161 bilirubin metabolic disorder 9.9
162 teratoma 9.9
163 movement disease 9.9
164 situs inversus 9.9
165 urethral diverticulum 9.9
166 diabetes mellitus 9.9
167 meningitis 9.9
168 arachnoid cysts 9.9
169 dextrocardia with situs inversus 9.9
170 horseshoe kidney 9.9
171 abdominal wall defect 9.9
172 isolated anorectal malformation 9.9
173 neurenteric cyst 9.9
174 congenital amyoplasia 9.9
175 microtia 9.9
176 lobar holoprosencephaly 9.9
177 total spina bifida cystica 9.8 VANGL1 FUZ
178 thoracolumbosacral spina bifida cystica 9.8 VANGL1 FUZ
179 alagille syndrome 1 9.8
180 femoral-facial syndrome 9.8
181 pseudohermaphroditism 9.8
182 cataract 9.8
183 cleft lip 9.8
184 hypertrophic cardiomyopathy 9.8
185 cleft lip/palate 9.8
186 amelia 9.8
187 lumbosacral spina bifida cystica 9.8 VANGL1 FUZ
188 cervical spina bifida cystica 9.8 VANGL1 FUZ
189 cervicothoracic spina bifida cystica 9.7 VANGL1 FUZ
190 upper thoracic spina bifida cystica 9.7 VANGL1 FUZ
191 catecholaminergic polymorphic ventricular tachycardia 9.3 VANGL1 RYR1

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:

59 32 (showing 49, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absence of the sacrum 59 32 Very frequent (99-80%) HP:0010305
2 hypertension 59 Occasional (29-5%)
3 constipation 32 HP:0002019
4 bowel incontinence 59 Very frequent (99-80%)
5 scoliosis 59 Frequent (79-30%)
6 joint stiffness 59 Frequent (79-30%)
7 renal insufficiency 59 Occasional (29-5%)
8 decreased muscle mass 59 Very frequent (99-80%)
9 abnormality of the cardiovascular system 59 Frequent (79-30%)
10 ectopic kidney 59 Frequent (79-30%)
11 malformation of the heart and great vessels 59 Frequent (79-30%)
12 tracheoesophageal fistula 59 Frequent (79-30%)
13 cryptorchidism 59 Occasional (29-5%)
14 renal hypoplasia/aplasia 59 Very frequent (99-80%)
15 reduced tendon reflexes 59 Frequent (79-30%)
16 back pain 32 HP:0003418
17 talipes equinovarus 59 Frequent (79-30%)
18 arnold-chiari malformation 59 Occasional (29-5%)
19 vesicoureteral reflux 59 Frequent (79-30%)
20 meningocele 32 HP:0002435
21 headache 32 HP:0002315
22 anal atresia 59 Very frequent (99-80%),Frequent (79-30%)
23 arrhinencephaly 59 Occasional (29-5%)
24 spina bifida 59 Frequent (79-30%)
25 meningitis 32 HP:0001287
26 abnormality of pelvic girdle bone morphology 59 Very frequent (99-80%)
27 abnormality of the urinary system 59 Very frequent (99-80%)
28 ambiguous genitalia 59 Very frequent (99-80%),Occasional (29-5%)
29 abnormality of the ureter 59 Frequent (79-30%)
30 missing ribs 59 Occasional (29-5%)
31 oral cleft 59 Occasional (29-5%)
32 ureteral duplication 59 Frequent (79-30%)
33 pulmonary hypoplasia 59 Occasional (29-5%)
34 impulsivity 59 Very frequent (99-80%)
35 aplasia/hypoplasia of the radius 59 Frequent (79-30%)
36 abnormal vertebral segmentation and fusion 59 Very frequent (99-80%)
37 maternal diabetes 59 Very frequent (99-80%)
38 renal agenesis 59 Frequent (79-30%)
39 hypoplastic vertebral bodies 59 Very frequent (99-80%)
40 sirenomelia 59 Very frequent (99-80%)
41 urinary retention 32 HP:0000016
42 neurogenic bladder 32 HP:0000011
43 aplasia/hypoplasia of the sacrum 59 Very frequent (99-80%)
44 abnormality of the wing of the ilium 59 Very frequent (99-80%)
45 hemisacrum 32 HP:0009790
46 sacral lipoma 32 HP:0012033
47 dermoid cyst 32 HP:0025247
48 rectal abscess 32 HP:0005224
49 anterior sacral meningocele 32 HP:0007293

Symptoms via clinical synopsis from OMIM:

57
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 (showing 2, show less)
# 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:

46 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 FUZ RYR1 VANGL1
2 limbs/digits/tail MP:0005371 9.33 FUZ RYR1 VANGL1
3 respiratory system MP:0005388 9.13 FUZ RYR1 VANGL1
4 skeleton MP:0005390 8.8 FUZ RYR1 VANGL1

Drugs & Therapeutics for Sacral Defect with Anterior Meningocele

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 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:

41
Spinal Cord, Kidney, Bone, Skin, Testes, Heart, Colon

Publications for Sacral Defect with Anterior Meningocele

Articles related to Sacral Defect with Anterior Meningocele:

(showing 273, show less)
# Title Authors PMID Year
1
Mutations in VANGL1 associated with neural-tube defects. 8 71
17409324 2007
2
Multidisciplinary management of caudal regression syndrome (26 cases). 38 8
9008829 1996
3
Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. 38 8
7977450 1994
4
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia. 8
25044506 2014
5
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. 8
22002878 2011
6
Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. 8
17963219 2007
7
"Like mother, like son:" hereditary anterior sacral meningocele. Case report and review of the literature. 8
16506502 2006
8
Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. 8
11528505 2001
9
Autosomal dominant sacral agenesis: Currarino syndrome. 8
10922380 2000
10
Involvement of the HLXB9 homeobox gene in Currarino syndrome. 8
10631160 2000
11
Sacral agenesis and caudal spinal cord malformations. 8
8492851 1993
12
Anterior sacral meningocele occurring in one family. An autosomal dominantly inherited condition. 8
2334530 1990
13
The syndrome of caudal dysplasia: a review, including etiologic considerations and evidence of heterogeneity. 8
6393099 1984
14
A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. 8
6214946 1982
15
Familial caudal regression anomalad and maternal diabetes. 8
469880 1979
16
Caudal regression anomalad (sacral agenesis) in siblings. 8
657575 1978
17
Hereditary defect of the sacrum. 8
1150242 1975
18
[Familial sacro-coccygeal agenesis. Apropos of 6 cases in 2 families]. 8
4610092 1974
19
Anterior sacral meningocele occurring in a family. 8
4707300 1973
20
Hereditary sacral agenesis associated with presacral tumours. 8
4700226 1973
21
Anterior sacral meningocele, anal canal duplication cyst and covered anus occurring in one family. 8
5505693 1970
22
[Anterior sacral meningocele. Review of the literature and presentation of a case]. 8
5401299 1969
23
Sacral agenesis. 8
4891160 1969
24
Hereditary defect of the sacrum and coccyx with anterior sacral meningocele. 8
5783413 1969
25
Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. 8
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. 8
13641302 1959
27
Surgical Correction of Spinopelvic Instability in Children With Caudal Regression Syndrome. 38
31192092 2019
28
Prenatal Diagnosis of Enterolithiasis in 20 Cases. 38
30879001 2019
29
Prenatal diagnosis of caudal regression with heterotaxy syndrome: "A mermaid with a broken heart". 38
30685882 2019
30
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. 38
30362177 2019
31
Neural Tube Defects in Embryonic Life: Lessons Learned From 340 Early Pregnancy Failures. 38
29665042 2018
32
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review. 38
28875772 2018
33
Pierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes. 38
29651537 2018
34
[Caudal regression syndrome: about a case]. 38
30574238 2018
35
Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. 38
28693936 2017
36
Diagnostic yield of lumbosacral magnetic resonance imaging requested by paediatric urology consultations. 38
28366522 2017
37
Caudal Regression Syndrome with Bilateral Microtia. 38
28969749 2017
38
Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences. 38
28969239 2017
39
Caudal Regression Syndrome with Pressure Ulcers of the Foot: A Case Report. 38
28892975 2017
40
Right-sided InterStim Placement in a Patient With Left Sacral Hypoplasia. 38
28161378 2017
41
Congenital lumbar vertebrae agenesis in a lamb. 38
29326797 2017
42
A Rare Case of Caudal Regression Syndrome in a Foetus of Non-Diabetic Mother: A Case Report. 38
29657626 2017
43
Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother. 38
28904658 2017
44
Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome. 38
28124993 2017
45
Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up. 38
30363289 2017
46
Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly. 38
28439323 2017
47
Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex. 38
29138704 2017
48
Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis. 38
27794580 2017
49
Sacral agenesis: a pilot whole exome sequencing and copy number study. 38
28007035 2016
50
Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes. 38
26872465 2016
51
Pregnancy outcomes after exposure to tocilizumab: A retrospective analysis of 61 patients in Japan. 38
26873562 2016
52
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney. 38
26482981 2016
53
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. 38
25845272 2016
54
Congenital malformations of the brain and spine. 38
27430461 2016
55
Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene. 38
28116192 2016
56
Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients. 38
27833778 2016
57
Targeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats. 38
27727328 2016
58
Incidence and Spectrum of Renal Complications and Extrarenal Diseases and Syndromes in 380 Children and Young Adults With Horseshoe Kidney. 38
26587938 2015
59
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. 38
26239763 2015
60
[Caudal regression sequence: clinical-radiological case]. 38
26455704 2015
61
A case of avoidable heterotopic pregnancy after single embryo transfer. 38
25892502 2015
62
Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature. 38
26266174 2015
63
MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral developmentā€ . 38
25652402 2015
64
Novel insights into early embryonic demise via 3D surface rendered imaging in 107 cases. 38
24420719 2015
65
In utero diagnosis of caudal regression syndrome. 38
27408660 2015
66
Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management. 38
26451378 2015
67
Sirenomelia and severe caudal regression syndrome. 38
25551110 2014
68
Urological outcome in patients with Currarino syndrome. 38
25475810 2014
69
A case of caudal regression syndrome: walking or sitting? 38
25400859 2014
70
High abrupt cord termination: a hallmark of caudal regression syndrome. 38
24473424 2014
71
[Acute urinary retention in children: initial manifestation of caudal regression syndrome]. 38
24042488 2013
72
Fetal MRI as a complementary technique after prenatal diagnosis of persistent vitelline artery in an otherwise normal fetus. 38
23836580 2013
73
Cross-sectional study of the neural ossification centers of vertebrae C1-S5 in the human fetus. 38
23455365 2013
74
Conjoined legs: Sirenomelia or caudal regression syndrome? 38
23960288 2013
75
Caudal regression syndrome. 38
23445152 2013
76
A rare congenital malformation: caudal regression syndrome. 38
23504067 2013
77
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. 38
24083063 2013
78
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. 38
23652529 2013
79
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. 38
22995555 2012
80
The talar axis-first metatarsal base angle in CVT treatment: a comparison of idiopathic and non-idiopathic cases treated with the Dobbs method. 38
24294312 2012
81
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. 38
22526445 2012
82
Scoliotic deformity and asymptomatic cervical syrinx in a 9 year old with caudal regression syndrome. 38
23560005 2012
83
[Caudal regression syndrome]. 38
22535352 2012
84
Care of the infant of the diabetic mother. 38
22094826 2012
85
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. 38
22761628 2012
86
Sirenomelia: a rare presentation. 38
26023366 2012
87
Teaching NeuroImages: caudal regression syndrome. 38
22170950 2011
88
Juvenile glaucoma in a child with caudal regression syndrome. 38
20809909 2011
89
Tail regression induced by elevated retinoic acid signaling in amphioxus larvae occurs by tissue remodeling, not cell death. 38
23016904 2011
90
PCSK5 and GDF11 expression in the hindgut region of mouse embryos with anorectal malformations. 38
21480163 2011
91
Lumbopelvic stabilization with external fixator in a patient with lumbosacral agenesis. 38
20502924 2011
92
[Congenital anomalies in the central nervous system (6) occult spinal dysraphism (other than spinal lipoma): congenital dermal sinus, tight filum terminale, neurenteric cyst, split cord malformation, and caudal regression syndrome]. 38
21512203 2011
93
Prenatal US evaluation of the spinal cord using high-frequency linear transducers. 38
21221567 2011
94
Risk factors for renal function impairment in a series of 502 patients born with spinal dysraphisms. 38
20363192 2011
95
Magnetic resonance imaging in the evaluation of the fetal spinal canal contents. 38
20188501 2011
96
De novo microduplication at 22q11.21 in a patient with VACTERL association. 38
20849991 2011
97
Unusual coexistence of caudal duplication and caudal regression syndromes. 38
21238681 2011
98
Prenatal diagnosis of caudal regression syndrome without maternal diabetes mellitus. 38
24591990 2011
99
The lumbosacral angle does not reflect progressive tethered cord syndrome in children with spinal dysraphism. 38
20857121 2010
100
Anterior sacral pyocele with meningitis: a rare presentation of occult spinal dysraphism with congenital dermal sinus. 38
20363962 2010
101
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. 38
19838731 2010
102
Loss of Dact1 disrupts planar cell polarity signaling by altering dishevelled activity and leads to posterior malformation in mice. 38
20145239 2010
103
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. 38
21509087 2010
104
The sirenomelia sequence: a case history. 38
21769253 2010
105
Caudal regression syndrome in one of dizygotic twins. 38
21043567 2010
106
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. 38
22953253 2010
107
3-D MR imaging of ectopia vasa deferentia. 38
19685046 2009
108
Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis. 38
19660449 2009
109
New horizons at the caudal embryos: coordinated urogenital/reproductive organ formation by growth factor signaling. 38
19765973 2009
110
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. 38
19536863 2009
111
Sirenomelia, the Mermaid syndrome: case report and a brief review of literature. 38
19813692 2009
112
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. 38
19198864 2009
113
Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association. 38
19218883 2009
114
Intestinal reconstruction of the lower urinary tract as a prerequisite for renal transplantation. 38
19076129 2009
115
Recognition of caudal regression syndrome. 38
19363325 2009
116
Angiographic demonstration of an aberrant abdominal umbilical artery in a patient with penoscrotal transposition and caudal regression. 38
18795221 2009
117
Prenatal diagnosis and fetopathological investigation of dorsolumbosacral agenesis. 38
19185430 2009
118
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. 38
19995255 2009
119
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. 38
19099562 2008
120
Cecostomy button for antegrade enemas: survey of 29 patients. 38
18926220 2008
121
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. 38
18519639 2008
122
Caudal regression syndrome. 38
18536840 2008
123
[Caudal regression syndrome - caudal agenesis]. 38
18098097 2008
124
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. 38
18358295 2008
125
Syndromes, disorders and maternal risk factors associated with neural tube defects (II). 38
18400577 2008
126
Spinal sonography in newborns and infants - part II: spinal dysraphism and tethered cord. 38
17610176 2008
127
[Currarino syndrome]. 38
18444392 2008
128
[Caudal regression syndrome--two case reports]. 38
18411644 2008
129
Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome. 38
17968797 2007
130
[Sonographic diagnosis of caudal regression syndrome]. 38
17918049 2007
131
Pre-natal diagnosis of caudal regression syndrome. 38
17686358 2007
132
[Recurrent urinary tract infection in a patient with sacral agenesis and vertebral-lumbar dysraphism. Diagnostic-therapeutic scheme and clinical outcome]. 38
17718217 2007
133
Sirenomelia: a case report. 38
17883073 2007
134
Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion. 38
16949239 2007
135
Caudal Regression Syndrome. 38
27407981 2007
136
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. 38
17021725 2006
137
Caudal regression syndrome with sacral rib: MRI features. 38
17050368 2006
138
Post-mortem MRI of the foetal spine and spinal cord. 38
16843751 2006
139
[Urological outcome of patients with sacral agenesis: 20 years follow-up]. 38
16933487 2006
140
Leiomyomatosis peritonealis disseminata in association with Currarino syndrome? 38
16686944 2006
141
[Prenatal diagnosis of sirenomelia]. 38
16575365 2006
142
HLXB9 homeobox gene and caudal regression syndrome. 38
16498628 2006
143
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. 38
16463413 2006
144
Colonic duplication: diagnostic dilemma. 38
16544230 2006
145
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. 38
16291141 2005
146
A neonate with anorectal malformation with rare limb defects report of a case. 38
16195913 2005
147
[Effect of maternal diabetes on human and rat fetal development]. 38
16583835 2005
148
Caudal regression syndrome--case report and review of literature. 38
15977017 2005
149
Hyperglycemia: its imminent effects on mammalian nephrogenesis. 38
15875217 2005
150
Implication of Wt1 in the pathogenesis of nephrogenic failure in a mouse model of retinoic acid-induced caudal regression syndrome. 38
15855632 2005
151
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. 38
15791681 2005
152
Anesthesia in caudal regression syndrome. 38
15675942 2005
153
Currarino syndrome: proposal of a diagnostic and therapeutic protocol. 38
15359381 2004
154
Case 66: caudal regression syndrome in the fetus of a diabetic mother. 38
14695398 2004
155
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. 38
15266776 2004
156
Perinatal identification of caudal regression syndrome and alobar holoprosencephaly in pregnancies with poor maternal metabolic control. 38
15658628 2004
157
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. 38
14694401 2004
158
Unilateral pulmonary atresia with total sacral agenesis and other congenital defects. 38
15127768 2004
159
Ossification timing of sacral vertebrae by ultrasound in the mid-second trimester of pregnancy. 38
14691992 2003
160
Renal development in high-glucose ambience and diabetic embryopathy. 38
14631566 2003
161
Infantile glaucoma and punctal atresia in a child with caudal regression syndrome. 38
12917621 2003
162
Chiari I malformation and caudal regression syndrome: a previously unreported association. 38
12868483 2003
163
Anorectal anomaly associated with caudal regression: late evaluation after posterior sagittal anorectoplasty. 38
12721739 2003
164
Sirenomelia in one of Nigerian monochorionic twins. 38
15027784 2002
165
Caudal regression syndrome: an online multicentre survey. Urological long-term results. 38
12585250 2002
166
Caudal Regression Syndrome in twin pregnancy with type II diabetes. 38
11896527 2002
167
Extreme caudal agenesis. Possible drug-related etiology? 38
11933692 2002
168
Caudal regression syndrome versus sirenomelia: a case report. 38
11896526 2002
169
Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. 38
11733381 2001
170
Caudal Regression Syndrome and peno-scrotal transposition. 38
11426250 2001
171
Lumbo-sacral agenesis. Clinical analysis and treatment relating to 4 observations. 38
11594169 2001
172
[Caudal regression syndrome. Lumbo-sacral agenesis]. 38
11321984 2001
173
Prenatal diagnosis of Caudal Regression Syndrome : a case report. 38
11782287 2001
174
[Caudal regression syndrome]. 38
11462468 2001
175
Caudal regression syndrome. 38
11175945 2001
176
Sirenomelia with esophageal atresia. 38
11436149 2000
177
Caudal regression syndrome and annular pancreas: a rare association. 38
11045590 2000
178
US of the spinal cord in newborns: spectrum of normal findings, variants, congenital anomalies, and acquired diseases. 38
10903684 2000
179
[Caudal regression syndrome]. 38
11043278 2000
180
Anorectal malformations associated with enteric dysganglionosis in Danforth's short tail (Sd) mice. 38
10626862 1999
181
Polytopic anomalies with agenesis of the lower vertebral column. 38
10533024 1999
182
A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst. 38
10705931 1999
183
Caudal regression syndrome detected in a fetus with increased nuchal translucency. 38
10422916 1999
184
Lumbar agenesis with sacral sparing: a case report. 38
10436763 1999
185
Occult lumbosacral dysraphism in children and young adults: diagnostic performance of fast screening and conventional MR imaging. 38
10352604 1999
186
Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. 38
10219410 1999
187
A severe form of Caudal Regression Syndrome. 38
27605147 1999
188
Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. 38
10333372 1999
189
Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5. 38
9833697 1998
190
[Caudal regression syndrome]. 38
9803509 1998
191
An avian model for comparative studies of insulin teratogenicity. 38
9818450 1998
192
Early detection of caudal regression syndrome: specific interest and findings in three cases. 38
9758271 1998
193
Retinoic acid-induced caudal regression syndrome in the mouse fetus. 38
9535508 1998
194
Caudal regression syndrome: MR appearance. 38
9745947 1998
195
Progressive congenital kyphosis: report of five cases and review of the literature. 38
9419030 1997
196
Renal agenesis, ureteral ectopia into seminal vesicle, vas deferens agenesis and hemivertebra: an incomplete form of caudal regression syndrome? 38
9405995 1997
197
Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother. 38
9018422 1997
198
[Caudal regression syndrome associated with Klippel-Feil syndrome]. 38
9827141 1997
199
Comparison of preoperative innervation pattern and postreconstructive urodynamics in the exstrophy-epispadias complex. 38
9313317 1997
200
Report of a new case of axial mesodermal dysplasia complex. 38
9007333 1996
201
Sirenomelia: the mermaid syndrome. 38
24057856 1996
202
Bone scintigraphy of caudal regression syndrome. 38
8896933 1996
203
Sirenomelia: urological abnormalities in a surviving mermaid. 38
12741971 1996
204
Teratogenic and lethal effects of long-term hyperthermia and hypothermia in the chick embryo. 38
8829256 1996
205
Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations. 38
8669962 1996
206
[The caudal regression syndrome]. 38
8796952 1996
207
[Prenatal diagnosis of three caudal regression syndromes associated with maternal diabetes]. 38
8815138 1996
208
[Sirenomelia. Review of nosology and a case report]. 38
7730567 1995
209
Diabetic embryopathy. 38
7951674 1994
210
Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management. 38
7936503 1994
211
MR of the caudal regression syndrome: embryologic implications. 38
8073969 1994
212
Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence). 38
8126785 1994
213
[Laser reflexotherapy in the combined treatment of neurogenic bladder dysfunction in children with caudal regression syndrome]. 38
7516224 1994
214
Gram-negative meningitis and chronic constipation: an unusual presentation of caudal regression syndrome. 38
8255844 1993
215
Peno-scrotal transposition and the caudal regression syndrome. 38
1777496 1991
216
Caudal regression: a review of seven cases, including the mermaid syndrome. 38
1960198 1991
217
Sirenomelia in an identical twin: a case report. 38
1812270 1991
218
Effects of in vivo exposure of pregnant hamsters to glucose. 1. Abnormalities in LVG strain fetuses following intermittent multiple treatments with two isomers. 38
1925978 1991
219
[Caudal regression syndrome in the fetus of a type I diabetic patient: case report]. 38
1790911 1991
220
[Observations of a case of sirenomelia in a 37-year-old adult]. 38
1759671 1991
221
Spinal cord abnormalities in caudal regression syndrome. 38
2028749 1991
222
Early detection of caudal regression syndrome with transvaginal scanning. 38
2406664 1990
223
Caudal regression syndrome and spondyloepiphyseal dysplasia in a 6-year-old child. A new syndrome? 38
2287549 1990
224
Anorectal malformations with sacral bony abnormalities. 38
2604421 1989
225
Partial transposition of the penis and scrotum with anterior urethral diverticulum in a child born with the caudal regression syndrome. 38
2627212 1989
226
Anatomical evaluation of the caudal regression syndrome (lumbosacral agenesis) with magnetic resonance imaging. 38
2771018 1989
227
[Caudal regression syndrome]. 38
2596149 1989
228
[Children of insulin-dependent diabetic patients. A determination of status]. 38
2654617 1989
229
[Urologic complications secondary to sacral agenesis]. 38
2742353 1989
230
[Surgical therapy of severe knee flexion and hip flexion contractures in caudal regression syndrome]. 38
3245276 1988
231
[Penis agenesis, persistent cloaca and anorectal agenesis]. 38
3211169 1988
232
[Caudal regression syndrome with complete absence of lumbo-sacral spine in a son of a diabetic woman. Presentation of a case]. 38
3185436 1988
233
Caudal regression syndrome. 38
3235183 1988
234
In-utero diagnosis of the caudal regression syndrome: report of three cases. 38
3134449 1987
235
Transposition of the external genitalia associated with caudal regression. 38
3599260 1987
236
Anorectal atresia: prenatal sonographic diagnosis. 38
3300224 1987
237
The caudal regression syndrome in infants of diabetic mothers. 38
3304122 1987
238
Topics in perinatal ultrasonography. Caudal regression syndrome. 38
3332895 1987
239
[You make the diagnosis. Caudal regression syndrome]. 38
3587994 1987
240
[Inflammatory esophageal polyp and Barrett's esophagus in a young girl with caudal regression syndrome]. 38
3800178 1986
241
Immature renal tissue in colonic wall of patient with caudal regression syndrome. 38
3013121 1986
242
[Genetic counseling and the caudal regression syndrome]. 38
4093770 1985
243
[The Vater association in a newborn infant of a diabetic mother]. 38
4034342 1985
244
Urological anomalies in the caudal regression syndrome. 38
6593030 1984
245
[The clinical variability and genetic heterogeneity of the caudal regression syndrome (CRS)]. 38
6477457 1984
246
[Sirenomelia: caudal regression syndrome]. 38
6717236 1984
247
[Sympodia--the caudal regression syndrome]. 38
6472870 1984
248
Sacrococcygeal developmental abnormalities and tumors in children. 38
6366733 1984
249
[Neurogenic vesico-sphincter dysfunctions in the caudal regression syndrome]. 38
6703537 1984
250
[Sirenomelia and multicystic renal dysplasia. Apropos of 2 cases]. 38
6674416 1983
251
[Caudal regression syndrome: presentation of a case in childhood and review of the literature]. 38
6545409 1983
252
[Sacral dysgenesis and its neuro-urologic pathologic correlates]. 38
6891516 1982
253
[The VACTERL association and its nosologic limits]. 38
6927347 1982
254
Sirenomelia. Angiographic demonstration of vascular anomalies. 38
6896449 1982
255
[Sirenomelia--the caudal regression syndrome (author's transl)]. 38
7050679 1982
256
Unusual split of the spinal cord in a caudal regression syndrome with myelocystocele. 38
7168484 1982
257
Sacral agenesis. 38
7263205 1981
258
Percutaneous transluminal angioplasty of homograft renal artery stenosis in a 10-year-old girl. 38
7019844 1981
259
The axial mesodermal dysplasia spectrum. 38
7243441 1981
260
Sacral agenesis with associated anomalies (caudal regression syndrome): autopsy case report. 38
535268 1979
261
[The caudal regression syndrome (author's transl)]. 38
574583 1979
262
Bilateral femoral dysgenesis syndrome: a case report. 38
281283 1978
263
[Congenital multiple arthrogryposis with caudal regression syndrome]. 38
103166 1978
264
Femoral hypoplasia-unusual facies syndrome, from another viewpoint. 38
668714 1978
265
The influence of preconceptional glucose values on the outcome of pregnancy. 38
256544 1978
266
[Caudal regression syndrome and diastematomyelia. What is contained in Hohl's first publication of sacral dysgenesis? (author's transl)]. 38
654448 1978
267
An evaluation of the embryotoxic effects of blighted potatoes on chicken embryos. 38
996781 1976
268
[Caudal regression syndrome (report of 4 cases) (author's transl)]. 38
1267298 1976
269
Caudal regression syndrome: the urologic implications. 38
1195478 1975
270
Factors affecting risks of congenital malformations. II. Effect of maternal diabetes on congenital malformations. 38
769859 1975
271
A diabetic embryopathy: the caudal regression syndrome. 38
5173752 1971
272
Caudal dysplasia (caudal regression syndrome). 38
4247988 1970
273
Caudal dysplasia syndrome (caudal regression syndrome). 38
5697974 1968

Variations for Sacral Defect with Anterior Meningocele

ClinVar genetic disease variations for Sacral Defect with Anterior Meningocele:

6 (showing 131, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 19:38986923-38986923 19:38496283-38496283
2 VANGL1 NM_138959.3(VANGL1): c.715G> A (p.Val239Ile) single nucleotide variant Likely pathogenic rs121918218 1:116206792-116206792 1:115664171-115664171
3 VANGL1 NM_138959.3(VANGL1): c.*1545A> G single nucleotide variant Uncertain significance rs117337677 1:116235545-116235545 1:115692924-115692924
4 VANGL1 NM_138959.3(VANGL1): c.*2107A> G single nucleotide variant Uncertain significance rs886045130 1:116236107-116236107 1:115693486-115693486
5 VANGL1 NM_138959.3(VANGL1): c.*2695C> A single nucleotide variant Uncertain significance rs540290490 1:116236695-116236695 1:115694074-115694074
6 VANGL1 NM_138959.3(VANGL1): c.*2865A> G single nucleotide variant Uncertain significance rs114921471 1:116236865-116236865 1:115694244-115694244
7 VANGL1 NM_138959.3(VANGL1): c.*2992G> A single nucleotide variant Uncertain significance rs886045135 1:116236992-116236992 1:115694371-115694371
8 VANGL1 NM_138959.3(VANGL1): c.765C> T (p.Val255=) single nucleotide variant Uncertain significance rs368722418 1:116206842-116206842 1:115664221-115664221
9 VANGL1 NM_138959.3(VANGL1): c.812+9C> T single nucleotide variant Uncertain significance rs370321176 1:116206898-116206898 1:115664277-115664277
10 VANGL1 NM_138959.3(VANGL1): c.*301G> C single nucleotide variant Uncertain significance rs193075321 1:116234301-116234301 1:115691680-115691680
11 VANGL1 NM_138959.3(VANGL1): c.*483A> G single nucleotide variant Uncertain significance rs886045122 1:116234483-116234483 1:115691862-115691862
12 VANGL1 NM_138959.3(VANGL1): c.*929G> A single nucleotide variant Uncertain significance rs886045123 1:116234929-116234929 1:115692308-115692308
13 VANGL1 NM_138959.3(VANGL1): c.*3289A> G single nucleotide variant Uncertain significance rs886045136 1:116237289-116237289 1:115694668-115694668
14 VANGL1 NM_138959.3(VANGL1): c.*5022T> G single nucleotide variant Uncertain significance rs886045145 1:116239022-116239022 1:115696401-115696401
15 VANGL1 NM_138959.3(VANGL1): c.*5413A> C single nucleotide variant Uncertain significance rs886045146 1:116239413-116239413 1:115696792-115696792
16 VANGL1 NM_138959.3(VANGL1): c.*5993C> G single nucleotide variant Uncertain significance rs886045150 1:116239993-116239993 1:115697372-115697372
17 VANGL1 NM_138959.3(VANGL1): c.*6128T> C single nucleotide variant Uncertain significance rs181588954 1:116240128-116240128 1:115697507-115697507
18 VANGL1 NM_138959.3(VANGL1): c.-145G> T single nucleotide variant Uncertain significance rs559438343 1:116184700-116184700 1:115642079-115642079
19 VANGL1 NM_138959.3(VANGL1): c.-24C> T single nucleotide variant Uncertain significance rs886045118 1:116194011-116194011 1:115651390-115651390
20 VANGL1 NM_138959.3(VANGL1): c.114C> T (p.Asp38=) single nucleotide variant Uncertain significance rs201840785 1:116202304-116202304 1:115659683-115659683
21 VANGL1 NM_138959.3(VANGL1): c.*47G> T single nucleotide variant Uncertain significance rs190792695 1:116234047-116234047 1:115691426-115691426
22 VANGL1 NM_138959.3(VANGL1): c.*634T> C single nucleotide variant Uncertain significance rs546423374 1:116234634-116234634 1:115692013-115692013
23 VANGL1 NM_138959.3(VANGL1): c.*1043A> G single nucleotide variant Uncertain significance rs150705915 1:116235043-116235043 1:115692422-115692422
24 VANGL1 NM_138959.3(VANGL1): c.*1456T> C single nucleotide variant Uncertain significance rs886045126 1:116235456-116235456 1:115692835-115692835
25 VANGL1 NM_138959.3(VANGL1): c.*1772A> G single nucleotide variant Uncertain significance rs114033235 1:116235772-116235772 1:115693151-115693151
26 VANGL1 NM_138959.3(VANGL1): c.*2099G> T single nucleotide variant Uncertain significance rs886045129 1:116236099-116236099 1:115693478-115693478
27 VANGL1 NM_138959.3(VANGL1): c.*3407dup duplication Uncertain significance rs752251154 1:116237407-116237407 1:115694786-115694786
28 VANGL1 NM_138959.3(VANGL1): c.*3598A> G single nucleotide variant Uncertain significance rs187286147 1:116237598-116237598 1:115694977-115694977
29 VANGL1 NM_138959.3(VANGL1): c.*3666G> A single nucleotide variant Uncertain significance rs886045138 1:116237666-116237666 1:115695045-115695045
30 VANGL1 NM_138959.3(VANGL1): c.*4463A> G single nucleotide variant Uncertain significance rs886045142 1:116238463-116238463 1:115695842-115695842
31 VANGL1 NM_138959.3(VANGL1): c.*4840T> C single nucleotide variant Uncertain significance rs886045144 1:116238840-116238840 1:115696219-115696219
32 VANGL1 NM_138959.3(VANGL1): c.*5267G> T single nucleotide variant Uncertain significance rs75064936 1:116239267-116239267 1:115696646-115696646
33 VANGL1 NM_138959.3(VANGL1): c.*5441_*5442TC[3] short repeat Uncertain significance rs886045147 1:116239447-116239448 1:115696826-115696827
34 VANGL1 NM_138959.3(VANGL1): c.*5639_*5640del deletion Uncertain significance rs886045148 1:116239639-116239640 1:115697018-115697019
35 VANGL1 NM_138959.3(VANGL1): c.*5929G> A single nucleotide variant Uncertain significance rs886045149 1:116239929-116239929 1:115697308-115697308
36 VANGL1 NM_138959.3(VANGL1): c.*6084C> G single nucleotide variant Uncertain significance rs536289395 1:116240084-116240084 1:115697463-115697463
37 VANGL1 NM_138959.3(VANGL1): c.*89_*91TTC[2] short repeat Uncertain significance rs746915495 1:116234095-116234097 1:115691474-115691476
38 VANGL1 NM_138959.3(VANGL1): c.*340C> G single nucleotide variant Uncertain significance rs886045121 1:116234340-116234340 1:115691719-115691719
39 VANGL1 NM_138959.3(VANGL1): c.-247_-245CGG[6] short repeat Uncertain significance rs886045116 1:116184610-116184612 1:115641989-115641991
40 VANGL1 NM_138959.3(VANGL1): c.*758G> A single nucleotide variant Uncertain significance rs546932643 1:116234758-116234758 1:115692137-115692137
41 VANGL1 NM_138959.3(VANGL1): c.*932dup duplication Uncertain significance rs886045124 1:116234932-116234932 1:115692311-115692311
42 VANGL1 NM_138959.3(VANGL1): c.*1483C> T single nucleotide variant Uncertain significance rs886045127 1:116235483-116235483 1:115692862-115692862
43 VANGL1 NM_138959.3(VANGL1): c.*1516A> C single nucleotide variant Uncertain significance rs886045128 1:116235516-116235516 1:115692895-115692895
44 VANGL1 NM_138959.3(VANGL1): c.*1970C> A single nucleotide variant Uncertain significance rs746455152 1:116235970-116235970 1:115693349-115693349
45 VANGL1 NM_138959.3(VANGL1): c.*2329C> T single nucleotide variant Uncertain significance rs188964296 1:116236329-116236329 1:115693708-115693708
46 VANGL1 NM_138959.3(VANGL1): c.*2336A> G single nucleotide variant Uncertain significance rs148944333 1:116236336-116236336 1:115693715-115693715
47 VANGL1 NM_138959.3(VANGL1): c.*2542C> T single nucleotide variant Uncertain significance rs886045134 1:116236542-116236542 1:115693921-115693921
48 VANGL1 NM_138959.3(VANGL1): c.*3123A> G single nucleotide variant Uncertain significance rs143712039 1:116237123-116237123 1:115694502-115694502
49 VANGL1 NM_138959.3(VANGL1): c.*4846G> C single nucleotide variant Uncertain significance rs868558700 1:116238846-116238846 1:115696225-115696225
50 VANGL1 NM_138959.3(VANGL1): c.*5267G> A single nucleotide variant Uncertain significance rs75064936 1:116239267-116239267 1:115696646-115696646
51 VANGL1 NM_138959.3(VANGL1): c.*5351G> A single nucleotide variant Uncertain significance rs762453158 1:116239351-116239351 1:115696730-115696730
52 VANGL1 NM_138959.3(VANGL1): c.*5862G> A single nucleotide variant Uncertain significance rs868196412 1:116239862-116239862 1:115697241-115697241
53 VANGL1 NM_138959.3(VANGL1): c.-171C> A single nucleotide variant Uncertain significance rs886045117 1:116184674-116184674 1:115642053-115642053
54 VANGL1 NM_138959.3(VANGL1): c.-115G> C single nucleotide variant Uncertain significance rs181583261 1:116193920-116193920 1:115651299-115651299
55 VANGL1 NM_138959.3(VANGL1): c.316G> A (p.Asp106Asn) single nucleotide variant Uncertain significance rs867892644 1:116206393-116206393 1:115663772-115663772
56 VANGL1 NM_138959.3(VANGL1): c.572T> C (p.Val191Ala) single nucleotide variant Uncertain significance rs781010619 1:116206649-116206649 1:115664028-115664028
57 VANGL1 NM_138959.3(VANGL1): c.575T> C (p.Leu192Pro) single nucleotide variant Uncertain significance rs561312836 1:116206652-116206652 1:115664031-115664031
58 VANGL1 NM_138959.3(VANGL1): c.914A> T (p.His305Leu) single nucleotide variant Uncertain significance rs886045119 1:116225086-116225086 1:115682465-115682465
59 VANGL1 NM_138959.3(VANGL1): c.1045G> A (p.Glu349Lys) single nucleotide variant Uncertain significance rs778860160 1:116226663-116226663 1:115684042-115684042
60 VANGL1 NM_138959.3(VANGL1): c.1172G> T (p.Arg391Met) single nucleotide variant Uncertain significance rs140485834 1:116228006-116228006 1:115685385-115685385
61 VANGL1 NM_138959.3(VANGL1): c.*1749G> A single nucleotide variant Uncertain significance rs3811010 1:116235749-116235749 1:115693128-115693128
62 VANGL1 NM_138959.3(VANGL1): c.*6474T> G single nucleotide variant Uncertain significance rs886045152 1:116240474-116240474 1:115697853-115697853
63 VANGL1 NM_138959.3(VANGL1): c.*6602C> T single nucleotide variant Uncertain significance rs886045153 1:116240602-116240602 1:115697981-115697981
64 VANGL1 NM_138959.3(VANGL1): c.*2116A> T single nucleotide variant Uncertain significance rs886045131 1:116236116-116236116 1:115693495-115693495
65 VANGL1 NM_138959.3(VANGL1): c.*2460C> T single nucleotide variant Uncertain significance rs886045132 1:116236460-116236460 1:115693839-115693839
66 VANGL1 NM_138959.3(VANGL1): c.*2541G> A single nucleotide variant Uncertain significance rs886045133 1:116236541-116236541 1:115693920-115693920
67 VANGL1 NM_138959.3(VANGL1): c.*6640G> A single nucleotide variant Uncertain significance rs746958675 1:116240640-116240640 1:115698019-115698019
68 VANGL1 NM_138959.3(VANGL1): c.*1042C> A single nucleotide variant Uncertain significance rs886045125 1:116235042-116235042 1:115692421-115692421
69 VANGL1 NM_138959.3(VANGL1): c.*4676C> G single nucleotide variant Uncertain significance rs886045143 1:116238676-116238676 1:115696055-115696055
70 VANGL1 NM_138959.3(VANGL1): c.*4731C> T single nucleotide variant Uncertain significance rs144489409 1:116238731-116238731 1:115696110-115696110
71 VANGL1 NM_138959.3(VANGL1): c.*5066C> G single nucleotide variant Uncertain significance rs751663783 1:116239066-116239066 1:115696445-115696445
72 VANGL1 NM_138959.3(VANGL1): c.*5132G> T single nucleotide variant Uncertain significance rs549041171 1:116239132-116239132 1:115696511-115696511
73 VANGL1 NM_138959.3(VANGL1): c.*3720T> C single nucleotide variant Uncertain significance rs886045139 1:116237720-116237720 1:115695099-115695099
74 VANGL1 NM_138959.3(VANGL1): c.*5466G> A single nucleotide variant Uncertain significance rs192325588 1:116239466-116239466 1:115696845-115696845
75 VANGL1 NM_138959.3(VANGL1): c.*5808C> T single nucleotide variant Uncertain significance rs184708484 1:116239808-116239808 1:115697187-115697187
76 VANGL1 NM_138959.3(VANGL1): c.*6360C> T single nucleotide variant Uncertain significance rs886045151 1:116240360-116240360 1:115697739-115697739
77 CASQ2 ; VANGL1 NM_001232.3(CASQ2): c.*1017del deletion Likely benign rs11347859 1:116242845-116242845 1:115700224-115700224
78 VANGL1 NM_138959.3(VANGL1): c.-226G> C single nucleotide variant Likely benign rs116216703 1:116184619-116184619 1:115641998-115641998
79 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*6199A> T single nucleotide variant Likely benign rs3811007 1:116240199-116240199 1:115697578-115697578
80 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*4504C> T single nucleotide variant Likely benign rs17034228 1:116238504-116238504 1:115695883-115695883
81 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*5266C> T single nucleotide variant Likely benign rs17034230 1:116239266-116239266 1:115696645-115696645
82 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*5368G> A single nucleotide variant Likely benign rs10494179 1:116239368-116239368 1:115696747-115696747
83 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*6026G> A single nucleotide variant Likely benign rs6428677 1:116240026-116240026 1:115697405-115697405
84 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*6212C> T single nucleotide variant Likely benign rs3811006 1:116240212-116240212 1:115697591-115697591
85 VANGL1 NM_138959.3(VANGL1): c.*1627A> G single nucleotide variant Likely benign rs149888685 1:116235627-116235627 1:115693006-115693006
86 VANGL1 NM_138959.3(VANGL1): c.*3762_*3765CAAA[2] short repeat Likely benign rs144395099 1:116237770-116237773 1:115695149-115695152
87 VANGL1 NM_138959.3(VANGL1): c.*83T> A single nucleotide variant Likely benign rs3811013 1:116234083-116234083 1:115691462-115691462
88 VANGL1 NM_138959.3(VANGL1): c.*217C> T single nucleotide variant Likely benign rs41299565 1:116234217-116234217 1:115691596-115691596
89 VANGL1 NM_138959.3(VANGL1): c.*707C> T single nucleotide variant Likely benign rs562969850 1:116234707-116234707 1:115692086-115692086
90 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*5995A> T single nucleotide variant Likely benign rs4595366 1:116239995-116239995 1:115697374-115697374
91 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*5633T> G single nucleotide variant Likely benign rs4348723 1:116239633-116239633 1:115697012-115697012
92 VANGL1 NM_138959.3(VANGL1): c.*3496T> A single nucleotide variant Likely benign rs4839472 1:116237496-116237496 1:115694875-115694875
93 VANGL1 NM_138959.3(VANGL1): c.*2351T> G single nucleotide variant Likely benign rs12121158 1:116236351-116236351 1:115693730-115693730
94 VANGL1 NM_138959.3(VANGL1): c.*2043C> T single nucleotide variant Likely benign rs74117021 1:116236043-116236043 1:115693422-115693422
95 VANGL1 NM_138959.3(VANGL1): c.*1749G> T single nucleotide variant Likely benign rs3811010 1:116235749-116235749 1:115693128-115693128
96 VANGL1 NM_138959.3(VANGL1): c.*1277C> T single nucleotide variant Likely benign rs3204955 1:116235277-116235277 1:115692656-115692656
97 VANGL1 NM_138959.3(VANGL1): c.-224C> A single nucleotide variant Likely benign rs191609592 1:116184621-116184621 1:115642000-115642000
98 VANGL1 NM_138959.3(VANGL1): c.1040A> C (p.Glu347Ala) single nucleotide variant Likely benign rs34059106 1:116226658-116226658 1:115684037-115684037
99 VANGL1 NM_138959.3(VANGL1): c.*416G> A single nucleotide variant Likely benign rs3811011 1:116234416-116234416 1:115691795-115691795
100 VANGL1 NM_138959.3(VANGL1): c.*505A> G single nucleotide variant Likely benign rs6700610 1:116234505-116234505 1:115691884-115691884
101 VANGL1 NM_138959.3(VANGL1): c.*694C> A single nucleotide variant Likely benign rs41312690 1:116234694-116234694 1:115692073-115692073
102 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*6321T> G single nucleotide variant Likely benign rs77318780 1:116240321-116240321 1:115697700-115697700
103 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*6721A> G single nucleotide variant Likely benign rs17034249 1:116240721-116240721 1:115698100-115698100
104 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*6763dup duplication Likely benign rs5777244 1:116240763-116240763 1:115698142-115698142
105 CASQ2 ; VANGL1 NM_001232.3(CASQ2): c.*1123_*1124del deletion Likely benign rs56839330 1:116242738-116242739 1:115700117-115700118
106 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*5841A> T single nucleotide variant Likely benign rs4548441 1:116239841-116239841 1:115697220-115697220
107 VANGL1 NM_138959.3(VANGL1): c.*5444C> G single nucleotide variant Likely benign rs142497673 1:116239444-116239444 1:115696823-115696823
108 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*4478C> T single nucleotide variant Likely benign rs17034226 1:116238478-116238478 1:115695857-115695857
109 VANGL1 NM_138959.3(VANGL1): c.*2489C> T single nucleotide variant Likely benign rs41299571 1:116236489-116236489 1:115693868-115693868
110 VANGL1 NM_138959.3(VANGL1): c.*2581G> A single nucleotide variant Likely benign rs3811008 1:116236581-116236581 1:115693960-115693960
111 VANGL1 NM_138959.3(VANGL1): c.*3336G> A single nucleotide variant Likely benign rs61732170 1:116237336-116237336 1:115694715-115694715
112 VANGL1 NM_138959.3(VANGL1): c.*300C> T single nucleotide variant Likely benign rs41310108 1:116234300-116234300 1:115691679-115691679
113 VANGL1 NM_138959.3(VANGL1): c.*313A> G single nucleotide variant Likely benign rs3811012 1:116234313-116234313 1:115691692-115691692
114 VANGL1 NM_138959.3(VANGL1): c.*383C> G single nucleotide variant Likely benign rs75277108 1:116234383-116234383 1:115691762-115691762
115 VANGL1 NM_138959.3(VANGL1): c.346G> A (p.Ala116Thr) single nucleotide variant Likely benign rs4839469 1:116206423-116206423 1:115663802-115663802
116 CASQ2 ; VANGL1 NM_001232.3(CASQ2): c.*138T> C single nucleotide variant Likely benign rs28730710 1:116243724-116243724 1:115701103-115701103
117 CASQ2 ; VANGL1 NM_138959.3(VANGL1): c.*5751A> G single nucleotide variant Likely benign rs10801933 1:116239751-116239751 1:115697130-115697130
118 VANGL1 NM_138959.3(VANGL1): c.*3417C> T single nucleotide variant Likely benign rs76160883 1:116237417-116237417 1:115694796-115694796
119 VANGL1 NM_138959.3(VANGL1): c.*3544C> T single nucleotide variant Likely benign rs74117023 1:116237544-116237544 1:115694923-115694923
120 VANGL1 NM_138959.3(VANGL1): c.*4089del deletion Likely benign rs138659832 1:116238089-116238089 1:115695468-115695468
121 VANGL1 NM_138959.3(VANGL1): c.*1183del deletion Likely benign rs3841008 1:116235183-116235183 1:115692562-115692562
122 VANGL1 NM_138959.3(VANGL1): c.*3023G> T single nucleotide variant Likely benign rs10923204 1:116237023-116237023 1:115694402-115694402
123 VANGL1 NM_138959.3(VANGL1): c.*2187T> C single nucleotide variant Likely benign rs146730302 1:116236187-116236187 1:115693566-115693566
124 VANGL1 NM_001232.3(CASQ2): c.*143G> A single nucleotide variant Likely benign rs28730709 1:116243719-116243719 1:115701098-115701098
125 CASQ2 ; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 1:116245551-116245551 1:115702930-115702930
126 CASQ2 ; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 1:116245533-116245533 1:115702912-115702912
127 CASQ2 ; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 1:116243877-116243877 1:115701256-115701256
128 CASQ2 ; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 1:116243868-116243868 1:115701247-115701247
129 VANGL1 NM_138959.3(VANGL1): c.435T> C (p.Cys145=) single nucleotide variant Benign/Likely benign rs34768472 1:116206512-116206512 1:115663891-115663891
130 CASQ2 ; VANGL1 NM_001232.3(CASQ2): c.*632G> C single nucleotide variant Benign/Likely benign rs1140238 1:116243230-116243230 1:115700609-115700609
131 CASQ2 ; VANGL1 NM_001232.3(CASQ2): c.*482C> T single nucleotide variant Benign/Likely benign rs7521023 1:116243380-116243380 1:115700759-115700759

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

74 (showing 1, show less)
# 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:

(showing 1, show less)
# 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

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