Aliases & Classifications for Sirenomelia

MalaCards integrated aliases for Sirenomelia:

Name: Sirenomelia 50 29 69
Mermaid Malformation 50
Sirenomelia Sequence 50
Fused Legs and Feet 50
Mermaid Syndrome 50
Sirenomelus 50

Classifications:



Summaries for Sirenomelia

NIH Rare Diseases : 50 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 caudal regression syndrome and selig benacerraf greene syndrome, and has symptoms including ambiguous genitalia, abnormality of the cardiovascular system and anal atresia. The drugs Pantoprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and heart.

Wikipedia : 72 Sirenomelia, alternatively known as Mermaid Syndrome, is a rare congenital deformity in which the legs... more...

Related Diseases for Sirenomelia

Diseases related to Sirenomelia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 caudal regression syndrome 11.2
2 selig benacerraf greene syndrome 10.8
3 potter's syndrome 9.9
4 anencephaly 9.9
5 cloacal exstrophy 9.8
6 hemifacial microsomia 9.8
7 craniorachischisis 9.8
8 omphalocele 9.8
9 imperforate anus 9.8
10 vacterl association 9.8
11 situs inversus 9.8
12 limb-body wall complex 9.8
13 neural tube defects 9.6
14 holoprosencephaly 9.6
15 hydrocephalus 9.6
16 esophageal atresia 9.6
17 polydactyly 9.6
18 gestational diabetes 9.6
19 esophagitis 9.6
20 oligohydramnios 9.6
21 dextrocardia 9.6
22 birth defects 9.6
23 limb reduction defect 9.6
24 pentalogy of cantrell 9.6
25 myelocystocele 9.6
26 renal dysplasia 9.6
27 alobar holoprosencephaly 9.6

Graphical network of the top 20 diseases related to Sirenomelia:



Diseases related to Sirenomelia

Symptoms & Phenotypes for Sirenomelia

Human phenotypes related to Sirenomelia:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 ambiguous genitalia 32 hallmark (90%) HP:0000062
2 abnormality of the cardiovascular system 32 frequent (33%) HP:0001626
3 anal atresia 32 hallmark (90%) HP:0002023
4 spina bifida 32 frequent (33%) HP:0002414
5 tracheoesophageal fistula 32 frequent (33%) HP:0002575
6 aplasia/hypoplasia of the radius 32 frequent (33%) HP:0006501
7 renal hypoplasia/aplasia 32 hallmark (90%) HP:0008678
8 absence of the sacrum 32 hallmark (90%) HP:0010305
9 sirenomelia 32 hallmark (90%) HP:0010497

Drugs & Therapeutics for Sirenomelia

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

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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Sirenomelia 29

Anatomical Context for Sirenomelia

MalaCards organs/tissues related to Sirenomelia:

39
Kidney, Brain, Heart

Publications for Sirenomelia

Articles related to Sirenomelia:

(show top 50) (show all 188)
id Title Authors Year
1
Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. ( 28693936 )
2017
2
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies. ( 28509418 )
2017
3
Prenatal diagnosis of sirenomelia in the second trimester of pregnancy using two-dimensional ultrasound, three-dimensional ultrasound and magnetic resonance imaging. ( 28670035 )
2017
4
Sirenomelia associated with Hypoplastic Left Heart in a Newborn. ( 28924546 )
2017
5
Prenatal diagnosis of sirenomelia in the first trimester: A case report. ( 28913090 )
2016
6
Exposure to methylergonovine maleate as a cause of sirenomelia. ( 27086509 )
2016
7
Fetal MR Imaging Analysis of Sirenomelia with Clinico Radiographic Correlation: A Case Report. ( 27504380 )
2016
8
Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis. ( 27062024 )
2016
9
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. ( 25845272 )
2015
10
Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound. ( 26670448 )
2015
11
Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital. ( 25976191 )
2015
12
Sirenomelia: two cases in Cali, Colombia. ( 25636631 )
2015
13
Sirenomelia with upper limb malformation: a case report and review of the literature. ( 26411229 )
2015
14
FOUR CASES OF SIRENOMELIA WITH DIFFERENT MANIFESTATION. ( 26625671 )
2015
15
Sirenomelia or mermaid syndrome. ( 26112858 )
2015
16
Sirenomelia: Expansion of the Phenotype. ( 26515295 )
2015
17
Sirenomelia: The mermaid syndrome: Report of two cases. ( 25810681 )
2015
18
Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases. ( 24656289 )
2014
19
Sirenomelia and severe caudal regression syndrome. ( 25551110 )
2014
20
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia. ( 25044506 )
2014
21
Sirenomelia with oesophageal atresia: a rare association. ( 24701519 )
2014
22
A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother. ( 25322991 )
2014
23
Severe Sirenomelia following frozen-thawed embryo transfer cycle. ( 22865038 )
2013
24
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? ( 22643051 )
2013
25
Short-term surviving sirenomelia neonate followed by a complex mesodermal malformation in a sibling. ( 23365163 )
2013
26
Conjoined legs: Sirenomelia or caudal regression syndrome? ( 23960288 )
2013
27
Diagnosis of sirenomelia in the first trimester. ( 24281983 )
2013
28
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ( 23526679 )
2013
29
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
30
Three-dimensional sonography of sirenomelia at 10 and 12 weeks' gestation. ( 23980232 )
2013
31
Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy. ( 23776071 )
2013
32
Sirenomelia apus: a rare deformity. ( 24027712 )
2012
33
Sirenomelia and caudal malformations in two families. ( 22522670 )
2012
34
Sirenomelia: case reports and current concepts of pathogenesis. ( 22816558 )
2012
35
Reduced BMP signaling results in hindlimb fusion with lethal pelvic/urogenital organ aplasia: a new mouse model of sirenomelia. ( 23028455 )
2012
36
Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3). ( 22639997 )
2012
37
Sirenomelia sequence with other rare congenital anomalies. ( 22415493 )
2012
38
Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America). ( 22628363 )
2012
39
Sirenomelia: a rare case of foetal congenital anomaly. ( 24027732 )
2012
40
Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations. ( 23028704 )
2012
41
Sirenomelia apus after trimethoprim exposure: first-trimester ultrasound diagnosis-a case report. ( 22467597 )
2012
42
Sirenomelia: four further cases with discussion of associated upper limb defects. ( 22660421 )
2012
43
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. ( 22002878 )
2011
44
Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, in vitro fertilization and embryo transfer. ( 22212341 )
2011
45
A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations. ( 21504909 )
2011
46
Sirenomelia. ( 21952334 )
2011
47
Sirenomelia in a Nigerian triplet: a case report. ( 21888626 )
2011
48
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
49
Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography. ( 21892002 )
2011
50
Sirenomelia with oligodactylia: early ultrasonographic and hysteroscopic embryoscopic diagnosis during the first trimester of gestation. ( 20501973 )
2010

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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