MCID: CNG587
MIFTS: 13

Congenital Limb Malformation

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Limb Malformation

MalaCards integrated aliases for Congenital Limb Malformation:

Name: Congenital Limb Malformation 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q74.8 Q74.9
UMLS via Orphanet 72 C0206762
Orphanet 58 ORPHA68378

Summaries for Congenital Limb Malformation

MalaCards based summary : Congenital Limb Malformation is related to genetic congenital limb malformation and brachydactyly, type a4. Affiliated tissues include skin and bone.

Related Diseases for Congenital Limb Malformation

Graphical network of the top 20 diseases related to Congenital Limb Malformation:



Diseases related to Congenital Limb Malformation

Symptoms & Phenotypes for Congenital Limb Malformation

Drugs & Therapeutics for Congenital Limb Malformation

Search Clinical Trials , NIH Clinical Center for Congenital Limb Malformation

Genetic Tests for Congenital Limb Malformation

Anatomical Context for Congenital Limb Malformation

MalaCards organs/tissues related to Congenital Limb Malformation:

40
Skin, Bone

Publications for Congenital Limb Malformation

Articles related to Congenital Limb Malformation:

(show all 32)
# Title Authors PMID Year
1
A Nonsense Mutation in HOXD13 Gene from A Chinese Family with Non-Syndromic Synpolydactyly. 61
31611522 2019
2
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature. 61
31050392 2019
3
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. 61
30711920 2019
4
Noncoding copy-number variations are associated with congenital limb malformation. 61
29236091 2018
5
Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation. 61
28422522 2017
6
Brachydactyly type E in an Italian family with 6p25 trisomy. 61
28111183 2017
7
A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I. 61
31966463 2017
8
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. 61
26640227 2016
9
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. 61
26436107 2015
10
[The function of transcription factor P63 and its signaling pathway during limb development]. 61
25119911 2014
11
Social consequences of disability in a nonhuman primate. 61
24508353 2014
12
Disability, compensatory behavior, and innovation in free-ranging adult female Japanese macaques (Macaca fuscata). 61
22549480 2012
13
Deletion and point mutations of PTHLH cause brachydactyly type E. 61
20170896 2010
14
A reevaluation of X-irradiation-induced phocomelia and proximodistal limb patterning. 61
19553938 2009
15
[Dynamics of acoustic properties of skin integument and hydroxyproline content during surgical treatment of congenital limb malformation]. 61
19645101 2009
16
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. 61
16235095 2005
17
p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly. 61
14656652 2004
18
Split hand foot malformation is associated with a reduced level of Dactylin gene expression. 61
12974740 2003
19
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. 61
12837695 2003
20
Pathogenesis of split-hand/split-foot malformation. 61
12668597 2003
21
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? 61
12073020 2002
22
The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes. 61
11543619 2001
23
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. 61
9758628 1998
24
A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. 61
9580668 1998
25
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. 61
9207113 1997
26
Correlation of expression of Wnt-1 in developing limbs with abnormalities in growth and skeletal patterning. 61
8464495 1993
27
[Neural pattern and limb development--normal development of the hindlimb nerve in the mouse and its aberrations induced by 5-fluorouracil]. 61
1700038 1990
28
A classification for congenital limb malformation. 61
6630951 1983
29
The Knud Jansen lecture. The operative treatment of congenital limb malformation--part III. 61
7301523 1981
30
The Knud Jansen lecture. The operative treatment of congenital limb malformation--part II, case study. 61
7279609 1981
31
The Knud Jansen lecture. The operative treatment of congenital limb malformation-Part I. 61
6261216 1980
32
HABILITATION OF PATIENTS WITH CONGENITAL LIMB MALFORMATION--PRESENT AND FUTURE. 61
14229754 1964

Variations for Congenital Limb Malformation

Expression for Congenital Limb Malformation

Search GEO for disease gene expression data for Congenital Limb Malformation.

Pathways for Congenital Limb Malformation

GO Terms for Congenital Limb Malformation

Sources for Congenital Limb Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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