MCID: LMB013
MIFTS: 16

Limb Reduction Defect

Categories: Rare diseases

Aliases & Classifications for Limb Reduction Defect

MalaCards integrated aliases for Limb Reduction Defect:

Name: Limb Reduction Defect 49

Classifications:



External Ids:

ICD10 32 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 leucovorin and Folic Acid have been mentioned in the context of this disorder.

Related Diseases for Limb Reduction Defect

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

Interventional clinical trials:


# 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 16)
# Title Authors Year
1
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. ( 28588837 )
2017
2
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. ( 24311471 )
2014
3
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
4
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features. ( 21167328 )
2011
5
Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis. ( 21281325 )
2011
6
Prenatal two- and three-dimensional ultrasound diagnosis of limb reduction defects associated with homozygous alpha-thalassemia. ( 16757914 )
2006
7
Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions. ( 15779021 )
2005
8
Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect. ( 15057126 )
2004
9
Unilateral limb reduction defect and lumbar appendage: disorganisation-like syndrome? ( 15083710 )
2004
10
Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family. ( 10532173 )
1999
11
Congenital diaphragmatic hernia and ipsilateral limb reduction defect: a new case, long-term follow-up and review of the literature. ( 9220197 )
1997
12
Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother. ( 9018422 )
1997
13
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. ( 7981865 )
1994
14
Congenital microgastria and limb reduction defects. ( 8502528 )
1993
15
Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome. ( 2240030 )
1990
16
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
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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