Sacral defect and anterior sacral meningocele

A hereditary autosomal dominant form of caudal dysgenesis that is present at birth and becomes symptomatic later in life due to obstructive labor in females, chronic CONSTIPATION, or MENINGITIS. Caudal dysgenesis syndrome and caudal regression syndrome broadly refer to a range 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 TYPE I DIABETES MELLITUS. A mutation in the VANGL1 gene has been identified in some cases of caudal regression. OMIM: 600145

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Networked: 30 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Constipation
2.	Congenital Abnormalities (Deformity)
3.	Holoprosencephaly (Arhinencephaly)
4.	Spinal Dysraphism (Spina Bifida)
5.	Teratoma (Teratoid Tumor)

Experts

1.	Browne, Marilyn L: 2 articles (06/2022 - 01/2019)
2.	Howley, Meredith M: 2 articles (06/2022 - 01/2019)
3.	National Birth Defects Prevention Study: 2 articles (06/2022 - 01/2019)
4.	Ramalingam, Manickam: 2 articles (07/2013 - 04/2008)
5.	Senthil, Kallappan: 2 articles (07/2013 - 04/2008)
6.	Fisher, Sarah C: 1 article (06/2022)
7.	Marchincin, Stephanie L: 1 article (06/2022)
8.	Nestoridi, Eirini: 1 article (06/2022)
9.	Tinker, Sarah C: 1 article (06/2022)
10.	Van Zutphen, Alissa R: 1 article (06/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Sacral defect and anterior sacral meningocele:

1.	Transcription Factors (Transcription Factor)IBA 03/01/2016 - "Mutations in the homeobox transcription factor MNX1 are the major cause of dominantly inherited sacral agenesis. " 02/01/2002 - "In humans, mutation in the HLXB9 transcription factor causes an autosomal dominant form of sacral agenesis. " 07/01/2003 - "Together with the finding that mutation of the pancreatic transcription factor HLXB9 causes sacral agenesis, our results implicate pancreatic transcription factors in the pathogenesis of birth defects associated with diabetes."
2.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "A causative role is further substantiated by the relationship between CDX2 and other proteins encoded by genes that were previously linked to caudal abnormalities in humans, for example, TBXT (sacral agenesis and other vertebral segmentation defects) and CDX1 (anorectal malformations). " 05/15/1996 - "Using fluorescence in situ hybridization, we concluded that this human RHEB gene was localized to band q36 on chromosome 7. Considering the chromosomal localization as well as the potential function of this protein, it will be very important to investigate whether it may play a role in the etiopathogenesis of holoprosencephaly type 3 or hereditary sacral agenesis, in which the disease susceptible locus is linked to the microsatellite marker, D7S22, in this chromosomal region, 7q36."
3.	Brachyury protein (Brachyury)IBA 02/01/2014 - "Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal." 03/01/1999 - "Some years ago, the idea of T (Brachyury) as a candidate gene for sacral agenesis was raised, because tail abnormalities associated with T and the t complex, on mouse chromosome 17, resemble spinal defects seen in man. "
4.	LaxativesIBA 06/01/1994 - "The case of a 14-year-old girl is presented who was born with sacral agenesis and severe, chronic constipation not responding to laxative treatment. "
5.	Neurokinin AIBA 01/01/1997 - "We investigated the contractility of isolated human neurogenic bladders taken from patients with myelomeningocele or sacral agenesis, and tested the response to neurokinin A (NKA), neuromedin K (NKB), and substance P (SP). "
6.	Neurokinin BIBA 01/01/1997 - "We investigated the contractility of isolated human neurogenic bladders taken from patients with myelomeningocele or sacral agenesis, and tested the response to neurokinin A (NKA), neuromedin K (NKB), and substance P (SP). "
7.	Prostaglandin D2IBA 01/01/2023 - "We observed the strongest aORs for sacral agenesis (PGD1: 70.4, 32.3-147; PGD2: 59.9, 25.4-135). "
8.	Substance PIBA 01/01/1997 - "We investigated the contractility of isolated human neurogenic bladders taken from patients with myelomeningocele or sacral agenesis, and tested the response to neurokinin A (NKA), neuromedin K (NKB), and substance P (SP). "
9.	Growth Hormone (Somatotropin)IBA 01/01/2011 - "The child presented with short stature and evaluation revealed sacral agenesis, growth hormone deficiency (GHD) and adrenal insufficiency. "
10.	SolventsIBA 06/01/1968 - "Exposure to fat solvents: a possible cause of sacral agenesis in man."

Therapies and Procedures

1.	Disarticulation 02/01/2011 - "The use of new-generation pediatric spinal instrumentation systems with a new technique without knee disarticulation provides a safe and effective fixation and fusion in lumbosacral agenesis."
2.	Artificial Urinary Sphincter 01/01/1988 - "Over a two years period, the model AS 800 artificial urinary sphincter was implanted in 10 children (mean 14 years old) with incontinence due to a neurogenic bladder (7 spina bifida; 3 sacral agenesis). " 08/01/1989 - "Incontinence resulted from myelodysplasia in 16 patients, sacral agenesis in 3, spinal cord injury in 6, posterior urethral valves in 1, bilateral ectopic ureters in 1 and epispadias-exstrophy in 3. Erosion occurred in 2 patients (7 per cent): 1 female patient who underwent simultaneous sphincter implantation and enterocystoplasty and who had undergone previously many bladder neck reconstructive procedures, including polytetrafluoroethylene (Teflon) injection, and 1 female patient in whom the augmented bladder was entered at artificial urinary sphincter implantation. "
3.	Urinary Diversion (Ileal Conduit) 07/01/2013 - "We present the case of a 10-y-old boy with sacral agenesis, who underwent laparoscopic-assisted ileal conduit diversion in 2006, because he had a grossly unstable, small-capacity bladder and was not compliant with intermittent self-catheterization. " 04/01/2008 - "Laparoscopy-assisted ileal conduit in sacral agenesis."
4.	Therapeutics 07/01/1981 - "In the past, neurologic deficits found in association with sacral agenesis were thought to be unamenable to surgical therapy. " 11/01/2003 - "We report a non-familial case of lumbosacral agenesis born to a type 1 diabetic mother who had hyperglycemia during pregnancy despite regular insulin therapy. "
5.	Noninvasive Ventilation 01/01/2019 - "A mature adolescent with previously treated myelokyphosis and sacral agenesis developed severe TIS with dependence on supplemental oxygen and noninvasive ventilation. "