MCID: RDL022
MIFTS: 22

Radial Hemimelia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Radial Hemimelia

MalaCards integrated aliases for Radial Hemimelia:

Name: Radial Hemimelia 59
Congenital Longitudinal Deficiency of the Radius 59
Radial Longitidinal Meromelia 59
Radial Ray Agenesis 59
Radial Club Hand 29
Radial Clubhand 59

Characteristics:

Orphanet epidemiological data:

59
radial hemimelia
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA93321
ICD10 via Orphanet 34 Q71.4

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). Affiliated tissues include bone and heart, 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 14)
# Related Disease Score Top Affiliating Genes
1 polydactyly 29.8 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 tibia, hypoplasia or aplasia of, with polydactyly 9.9 LMBR1 SHH
9 polydactyly, preaxial ii 9.8 LMBR1 SHH
10 syndactyly, type iv 9.8 LMBR1 SHH
11 laurin-sandrow syndrome 9.8 LMBR1 SHH
12 acheiropody 9.8 LMBR1 SHH
13 physical disorder 9.8 LMBR1 SHH
14 autosomal dominant disease 9.7 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:

46
# 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 29

Anatomical Context for Radial Hemimelia

MalaCards organs/tissues related to Radial Hemimelia:

41
Bone, Heart

Publications for Radial Hemimelia

Articles related to Radial Hemimelia:

(show all 13)
# 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
Use of the Ilizarov method of distraction osteogenesis for the treatment of radial hemimelia in a dog. ( 15646574 )
2005
6
Radiological findings in three cases of paraxial radial hemimelia in goats. ( 12399612 )
2002
7
Radial club hand and Holt-Oram syndrome. ( 7502621 )
1995
8
Preliminary experience with Ilizarov method in late reconstruction of radial hemimelia. ( 8463600 )
1993
9
Centralization of the ulna for congenital radial hemimelia: a case report. ( 873970 )
1977
10
A genetic and karyotype study of complete or incomplete paraxial radial hemimelia in Arizona--implications for genetic counseling. ( 5478898 )
1970
11
An analysis of cases of radial hemimelia. ( 20258280 )
1947
12
Radial hemimelia and the functional anatomy of the carpus. ( 17105006 )
1946
13
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....