Aliases & Classifications for Sirenomelia

MalaCards integrated aliases for Sirenomelia:

Name: Sirenomelia 49 28 69
Mermaid Malformation 49
Sirenomelia Sequence 49
Fused Legs and Feet 49
Mermaid Syndrome 49
Sirenomelus 49

Classifications:



Summaries for Sirenomelia

NIH Rare Diseases : 49 Sirenomelia is a birth defect in which affected infants are born with a single lower extremity or with two legs that are fused together. The symptoms and physical findings associated with the condition vary greatly among affected individuals and may include malformations of the spine and skeletal system (commonly with vertebrae either absent or defective); absent or underdeveloped internal and external sex organs, rectum, kidneys and/or bladder; closed rectal opening (imperforate anus); and other abnormalities of the lower gastrointestinal tract. The exact cause is unknown, but it is believed to result from irregularities in early development of the blood circulating system within the embryo. Surgery has been successful in separating joined legs. Other treatment is symptomatic and supportive. Last updated: 3/24/2016

MalaCards based summary : Sirenomelia, also known as mermaid malformation, is related to sacral defect with anterior meningocele and selig benacerraf greene syndrome, and has symptoms including ambiguous genitalia, abnormality of the cardiovascular system and anal atresia. The drugs Pantoprazole and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and heart.

Related Diseases for Sirenomelia

Graphical network of the top 20 diseases related to Sirenomelia:



Diseases related to Sirenomelia

Symptoms & Phenotypes for Sirenomelia

Human phenotypes related to Sirenomelia:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ambiguous genitalia 31 hallmark (90%) HP:0000062
2 abnormality of the cardiovascular system 31 frequent (33%) HP:0001626
3 anal atresia 31 hallmark (90%) HP:0002023
4 spina bifida 31 frequent (33%) HP:0002414
5 tracheoesophageal fistula 31 frequent (33%) HP:0002575
6 aplasia/hypoplasia of the radius 31 frequent (33%) HP:0006501
7 renal hypoplasia/aplasia 31 hallmark (90%) HP:0008678
8 absence of the sacrum 31 hallmark (90%) HP:0010305
9 sirenomelia 31 hallmark (90%) HP:0010497

Drugs & Therapeutics for Sirenomelia

Drugs for Sirenomelia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pantoprazole Approved Phase 4 102625-70-7 4679
2 Gastrointestinal Agents Phase 4
3 Antacids Phase 4
4 Anti-Ulcer Agents Phase 4
5 Proton pump inhibitors Phase 4
6
protease inhibitors
7 4-des-dimethylaminotetracycline
8 HIV Protease Inhibitors
9 Pharmaceutical Solutions
10 Matrix Metalloproteinase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sup-Icu RENal (SIREN) Recruiting NCT02718261 Phase 4 Pantoprazole;Saline 0.9% (matching placebo)
2 Hyperbaric Oxygen Brain Injury Treatment Trial Not yet recruiting NCT02407028 Phase 2 Hyperbaric oxygen (1.5 ATA, no NBH);Hyperbaric oxygen (2.0 ATA, no NBH);Hyperbaric oxygen (2.5 ATA, no NBH);Hyperbaric oxygen (1.5 ATA + NBH);Hyperbaric oxygen (2.0 ATA + NBH);Hyperbaric oxygen (2.5 ATA + NBH);Normobaric Hyperoxia (NBH)
3 Efficacy and Safety of StENt-assisted Treatment for CErebral Aneurysms Unknown status NCT01702584
4 Driving Ability in Patients With CMT 1A Completed NCT02357355
5 Emergency Medical Technician Treat-and-leave Patients Receiving Telemedicine Consultation With Emergency Medical Dispatch Physician - a Controlled Before and After Pilot-study Completed NCT02228317
6 Basic Life Support Termination of Resuscitation Implementation Study Completed NCT00370461
7 New-onset Diabetes and Left Ventricular Hypertrophy in Renal Transplantation Completed NCT01976689
8 Comparison Of Respiratory Support After Delivery on Infants Born Before 28 Weeks Gestational Age Recruiting NCT02563717

Search NIH Clinical Center for Sirenomelia

Genetic Tests for Sirenomelia

Genetic tests related to Sirenomelia:

# Genetic test Affiliating Genes
1 Sirenomelia 28

Anatomical Context for Sirenomelia

MalaCards organs/tissues related to Sirenomelia:

38
Kidney, Brain, Heart

Publications for Sirenomelia

Articles related to Sirenomelia:

(show top 50) (show all 190)
# Title Authors Year
1
Sirenomelia with VACTERL association-a rare anomaly. ( 29031871 )
2017
2
Prenatal diagnosis of sirenomelia in the second trimester of pregnancy using two-dimensional ultrasound, three-dimensional ultrasound and magnetic resonance imaging. ( 28670035 )
2017
3
Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. ( 28693936 )
2017
4
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies. ( 28509418 )
2017
5
Sirenomelia associated with Hypoplastic Left Heart in a Newborn. ( 28924546 )
2017
6
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. ( 29390297 )
2017
7
Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis. ( 27062024 )
2016
8
Fetal MR Imaging Analysis of Sirenomelia with Clinico Radiographic Correlation: A Case Report. ( 27504380 )
2016
9
Exposure to methylergonovine maleate as a cause of sirenomelia. ( 27086509 )
2016
10
Prenatal diagnosis of sirenomelia in the first trimester: A case report. ( 28913090 )
2016
11
FOUR CASES OF SIRENOMELIA WITH DIFFERENT MANIFESTATION. ( 26625671 )
2015
12
Sirenomelia: two cases in Cali, Colombia. ( 25636631 )
2015
13
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. ( 25845272 )
2015
14
Sirenomelia with upper limb malformation: a case report and review of the literature. ( 26411229 )
2015
15
Sirenomelia: The mermaid syndrome: Report of two cases. ( 25810681 )
2015
16
Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound. ( 26670448 )
2015
17
Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital. ( 25976191 )
2015
18
Sirenomelia or mermaid syndrome. ( 26112858 )
2015
19
Sirenomelia: Expansion of the Phenotype. ( 26515295 )
2015
20
Sirenomelia with oesophageal atresia: a rare association. ( 24701519 )
2014
21
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia. ( 25044506 )
2014
22
A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother. ( 25322991 )
2014
23
Sirenomelia and severe caudal regression syndrome. ( 25551110 )
2014
24
Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases. ( 24656289 )
2014
25
Diagnosis of sirenomelia in the first trimester. ( 24281983 )
2013
26
Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus. ( 23625330 )
2013
27
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ( 23526679 )
2013
28
Short-term surviving sirenomelia neonate followed by a complex mesodermal malformation in a sibling. ( 23365163 )
2013
29
Three-dimensional sonography of sirenomelia at 10 and 12 weeks' gestation. ( 23980232 )
2013
30
Conjoined legs: Sirenomelia or caudal regression syndrome? ( 23960288 )
2013
31
Severe Sirenomelia following frozen-thawed embryo transfer cycle. ( 22865038 )
2013
32
Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy. ( 23776071 )
2013
33
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? ( 22643051 )
2013
34
Sirenomelia apus: a rare deformity. ( 24027712 )
2012
35
Sirenomelia: four further cases with discussion of associated upper limb defects. ( 22660421 )
2012
36
Sirenomelia sequence with other rare congenital anomalies. ( 22415493 )
2012
37
Sirenomelia apus after trimethoprim exposure: first-trimester ultrasound diagnosis-a case report. ( 22467597 )
2012
38
Reduced BMP signaling results in hindlimb fusion with lethal pelvic/urogenital organ aplasia: a new mouse model of sirenomelia. ( 23028455 )
2012
39
Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations. ( 23028704 )
2012
40
Sirenomelia: a rare case of foetal congenital anomaly. ( 24027732 )
2012
41
Sirenomelia: case reports and current concepts of pathogenesis. ( 22816558 )
2012
42
Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America). ( 22628363 )
2012
43
Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3). ( 22639997 )
2012
44
Sirenomelia and caudal malformations in two families. ( 22522670 )
2012
45
A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations. ( 21504909 )
2011
46
Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia. ( 21815245 )
2011
47
Sirenomelia. ( 21952334 )
2011
48
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. ( 22002878 )
2011
49
Sirenomelia in a Nigerian triplet: a case report. ( 21888626 )
2011
50
Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography. ( 21892002 )
2011

Variations for Sirenomelia

Expression for Sirenomelia

Search GEO for disease gene expression data for Sirenomelia.

Pathways for Sirenomelia

GO Terms for Sirenomelia

Sources for Sirenomelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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41 MeSH
42 MESH via Orphanet
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45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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