MCID: LMB013
MIFTS: 14

Limb Reduction Defect

Categories: Rare diseases

Aliases & Classifications for Limb Reduction Defect

MalaCards integrated aliases for Limb Reduction Defect:

Name: Limb Reduction Defect 50

Classifications:



External Ids:

ICD10 33 Q73

Summaries for Limb Reduction Defect

MalaCards based summary : Limb Reduction Defect is related to microgastria limb reduction defect and microgastria-limb reduction defects association. The drugs Folic Acid and leucovorin have been mentioned in the context of this disorder.

Related Diseases for Limb Reduction Defect

Diseases related to Limb Reduction Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
id Related Disease Score Top Affiliating Genes
1 microgastria limb reduction defect 12.4
2 microgastria-limb reduction defects association 12.1
3 medeira-dennis-donnai syndrome 11.2
4 acrofacial dysostosis syndrome of rodriguez 10.8
5 mosaic trisomy 22 9.6
6 anencephaly 9.6
7 sirenomelia 9.6
8 jacobsen syndrome 9.6
9 trisomy 22 9.6
10 duodenal atresia 9.6
11 congenital microgastria 9.6
12 renal dysplasia 9.6
13 oliver syndrome 9.6
14 steinfeld syndrome 9.6
15 holoprosencephaly 9.6
16 thalassemia 9.6
17 adams-oliver syndrome 9.6
18 congenital diaphragmatic hernia 9.6
19 duodenitis 9.6
20 cleft lip 9.6

Graphical network of the top 20 diseases related to Limb Reduction Defect:



Diseases related to Limb Reduction Defect

Symptoms & Phenotypes for Limb Reduction Defect

Drugs & Therapeutics for Limb Reduction Defect

Drugs for Limb Reduction Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
2
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
3 Hematinics Phase 3
4 Micronutrients Phase 3
5 Trace Elements Phase 3
6 Vitamin B Complex Phase 3
7 Vitamins Phase 3
8 Folate Nutraceutical Phase 3
9 Vitamin B9 Nutraceutical Phase 3
10 Anesthetics
11 Central Nervous System Depressants

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
2 Closed Reduction With Anesthesia and no Anesthesia for Developmental Dislocation of the Hip < 6 Months Completed NCT03096470

Search NIH Clinical Center for Limb Reduction Defect

Genetic Tests for Limb Reduction Defect

Anatomical Context for Limb Reduction Defect

Publications for Limb Reduction Defect

Articles related to Limb Reduction Defect:

(show all 15)
id Title Authors Year
1
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. ( 28588837 )
2017
2
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
3
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. ( 24311471 )
2014
4
Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis. ( 21281325 )
2011
5
Prenatal two- and three-dimensional ultrasound diagnosis of limb reduction defects associated with homozygous alpha-thalassemia. ( 16757914 )
2006
6
Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions. ( 15779021 )
2005
7
Unilateral limb reduction defect and lumbar appendage: disorganisation-like syndrome? ( 15083710 )
2004
8
Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect. ( 15057126 )
2004
9
Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family. ( 10532173 )
1999
10
Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother. ( 9018422 )
1997
11
Congenital diaphragmatic hernia and ipsilateral limb reduction defect: a new case, long-term follow-up and review of the literature. ( 9220197 )
1997
12
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. ( 7981865 )
1994
13
Congenital microgastria and limb reduction defects. ( 8502528 )
1993
14
Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome. ( 2240030 )
1990
15
Unusual limb-reduction defect in infant born to mother taking periconceptional multivitamin supplement. ( 6142223 )
1984

Variations for Limb Reduction Defect

Expression for Limb Reduction Defect

Search GEO for disease gene expression data for Limb Reduction Defect.

Pathways for Limb Reduction Defect

GO Terms for Limb Reduction Defect

Sources for Limb Reduction Defect

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
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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