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:

ICD10 via Orphanet 34 Q71.4
Orphanet 59 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 LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone, and related phenotypes are abnormal thumb morphology and aplasia/hypoplasia of the radius

Related Diseases for Radial Hemimelia

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



Diseases related to Radial Hemimelia

Symptoms & Phenotypes for Radial Hemimelia

Human phenotypes related to Radial Hemimelia:

59 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal thumb morphology 59 Very frequent (99-80%)
2 aplasia/hypoplasia of the radius 59 Obligate (100%)
3 aplasia of the 1st metacarpal 59 Very frequent (99-80%)
4 abnormality of the scaphoid 59 Very frequent (99-80%)
5 abnormality of the trapezium 59 Very frequent (99-80%)
6 deviation of the hand or of fingers of the hand 59 Very frequent (99-80%)

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Radiological Outcomes of Centralization as a Surgical Management for Radial Club Hand Not yet recruiting NCT03432052

Search 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

Publications for Radial Hemimelia

Articles related to Radial Hemimelia:

(show all 19)
# Title Authors PMID Year
1
Bilateral Radial Agenesis in a Cat Treated with Bilateral Ulnocarpal Arthrodesis. 38
29925092 2018
2
Bilateral radial hemimelia and multiple malformations in a kitten. 38
22492348 2012
3
[Congenital paraxial radial hemimelia of 1 case]. 38
21485571 2011
4
Bilateral radial hemimelia, polydactyly and cardiomegaly in two cats. 38
19876522 2009
5
A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review. 38
18950501 2008
6
Use of the Ilizarov method of distraction osteogenesis for the treatment of radial hemimelia in a dog. 38
15646574 2005
7
Radiological findings in three cases of paraxial radial hemimelia in goats. 38
12399612 2002
8
[Treatment of radial agenesis with the Ilizarov method]. 38
11547231 2001
9
Congenital radius deficiency: radiographic outcome and survivorship analysis. 38
10584933 1999
10
Preliminary experience with Ilizarov method in late reconstruction of radial hemimelia. 38
8463600 1993
11
[Variants of radial hemimelia with and without vitium cordis (Holt-Oram syndrome) in 2 families]. 38
2739665 1989
12
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. 38
6881198 1983
13
Centralization of the ulna for congenital radial hemimelia: a case report. 38
873970 1977
14
Limb anomalies in chromosomal aberrations. 38
322750 1977
15
The effects of 5-fluorouracil and 5-fluorodeoxyuridine used alone and in combination with normal nucleic acid precursors on development of mice in lines selected for low and high expression of Strong's luxoid gene. 38
124471 1975
16
A genetic and karyotype study of complete or incomplete paraxial radial hemimelia in Arizona--implications for genetic counseling. 38
5478898 1970
17
An analysis of cases of radial hemimelia. 38
20258280 1947
18
Radial hemimelia and the functional anatomy of the carpus. 38
20286226 1946
19
Radial hemimelia and the functional anatomy of the carpus. 38
17105006 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 SHH LMBR1

Sources for Radial Hemimelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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