MCID: RDL022
MIFTS: 21

Radial Hemimelia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Radial Hemimelia

MalaCards integrated aliases for Radial Hemimelia:

Name: Radial Hemimelia 60
Congenital Longitudinal Deficiency of the Radius 60
Radial Longitidinal Meromelia 60
Radial Ray Agenesis 60
Radial Club Hand 30
Radial Clubhand 60

Characteristics:

Orphanet epidemiological data:

60
radial hemimelia
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q71.4
Orphanet 60 ORPHA93321

Summaries for Radial Hemimelia

MalaCards based summary : Radial Hemimelia, also known as congenital longitudinal deficiency of the radius, is related to polydactyly and radial ray agenesis. An important gene associated with Radial Hemimelia is SHH (Sonic Hedgehog Signaling Molecule). Affiliated tissues include heart and bone, and related phenotype is limbs/digits/tail.

Related Diseases for Radial Hemimelia

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 polydactyly 29.7 LMBR1 SHH
2 radial ray agenesis 12.4
3 holt-oram syndrome 10.0
4 vater/vacterl association 10.0
5 scoliosis 10.0
6 heart disease 10.0
7 vacterl association 10.0
8 compartment syndrome 10.0
9 tibia, hypoplasia or aplasia of, with polydactyly 9.8 LMBR1 SHH
10 polydactyly, preaxial ii 9.8 LMBR1 SHH
11 syndactyly, type iv 9.7 LMBR1 SHH
12 laurin-sandrow syndrome 9.7 LMBR1 SHH
13 acheiropody 9.7 LMBR1 SHH
14 physical disorder 9.6 LMBR1 SHH
15 autosomal dominant disease 9.5 LMBR1 SHH

Graphical network of the top 20 diseases related to Radial Hemimelia:



Diseases related to Radial Hemimelia

Symptoms & Phenotypes for Radial Hemimelia

MGI Mouse Phenotypes related to Radial Hemimelia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 LMBR1 SHH

Drugs & Therapeutics for Radial Hemimelia

Search Clinical Trials , NIH Clinical Center for Radial Hemimelia

Genetic Tests for Radial Hemimelia

Genetic tests related to Radial Hemimelia:

# Genetic test Affiliating Genes
1 Radial Club Hand 30

Anatomical Context for Radial Hemimelia

MalaCards organs/tissues related to Radial Hemimelia:

42
Heart, Bone

Publications for Radial Hemimelia

Articles related to Radial Hemimelia:

(show all 14)
# Title Authors Year
1
Bilateral radial hemimelia and multiple malformations in a kitten. ( 22492348 )
2012
2
Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association. ( 22482989 )
2012
3
Bilateral radial hemimelia, polydactyly and cardiomegaly in two cats. ( 19876522 )
2009
4
Preliminary soft tissue distraction using external fixator in radial club hand. ( 18977832 )
2008
5
Acquired radial club hand with humero-ulnar dislocation: a rare sequel to infantile compartment syndrome following venous cannulation: a case report. ( 17429131 )
2007
6
Use of the Ilizarov method of distraction osteogenesis for the treatment of radial hemimelia in a dog. ( 15646574 )
2005
7
Radiological findings in three cases of paraxial radial hemimelia in goats. ( 12399612 )
2002
8
Radial club hand and Holt-Oram syndrome. ( 7502621 )
1995
9
Preliminary experience with Ilizarov method in late reconstruction of radial hemimelia. ( 8463600 )
1993
10
Centralization of the ulna for congenital radial hemimelia: a case report. ( 873970 )
1977
11
A genetic and karyotype study of complete or incomplete paraxial radial hemimelia in Arizona--implications for genetic counseling. ( 5478898 )
1970
12
An analysis of cases of radial hemimelia. ( 20258280 )
1947
13
Radial hemimelia and the functional anatomy of the carpus. ( 17105006 )
1946
14
Radial hemimelia and the functional anatomy of the carpus. ( 20286226 )
1946

Variations for Radial Hemimelia

Expression for Radial Hemimelia

Search GEO for disease gene expression data for Radial Hemimelia.

Pathways for Radial Hemimelia

GO Terms for Radial Hemimelia

Biological processes related to Radial Hemimelia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 8.62 LMBR1 SHH

Sources for Radial Hemimelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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