RRDX
MCID: RDL037
MIFTS: 16

Radial Ray Deficiency, X-Linked (RRDX)

Aliases & Classifications for Radial Ray Deficiency, X-Linked

MalaCards integrated aliases for Radial Ray Deficiency, X-Linked:

Name: Radial Ray Deficiency, X-Linked 57 70
Radial Ray Deficiency 57 13
Abnormality of Radial Ray 6
Rrdx 57

External Ids:

OMIM® 57 300378
MedGen 41 C1845717
UMLS 70 C1845717

Summaries for Radial Ray Deficiency, X-Linked

MalaCards based summary : Radial Ray Deficiency, X-Linked, also known as radial ray deficiency, is related to holt-oram syndrome and vater/vacterl association. An important gene associated with Radial Ray Deficiency, X-Linked is RRDX (Radial Ray Deficiency). Affiliated tissues include heart.

More information from OMIM: 300378

Related Diseases for Radial Ray Deficiency, X-Linked

Diseases related to Radial Ray Deficiency, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 holt-oram syndrome 9.9
2 vater/vacterl association 9.9
3 fanconi anemia, complementation group a 9.9
4 thrombocytopenia-absent radius syndrome 9.9
5 polydactyly 9.9
6 townes-brocks syndrome 9.9
7 synostosis 9.9
8 vacterl association 9.9
9 thrombocytopenia 9.9

Graphical network of the top 20 diseases related to Radial Ray Deficiency, X-Linked:



Diseases related to Radial Ray Deficiency, X-Linked

Symptoms & Phenotypes for Radial Ray Deficiency, X-Linked

Clinical features from OMIM®:

300378 (Updated 05-Apr-2021)

Drugs & Therapeutics for Radial Ray Deficiency, X-Linked

Search Clinical Trials , NIH Clinical Center for Radial Ray Deficiency, X-Linked

Genetic Tests for Radial Ray Deficiency, X-Linked

Anatomical Context for Radial Ray Deficiency, X-Linked

MalaCards organs/tissues related to Radial Ray Deficiency, X-Linked:

40
Heart

Publications for Radial Ray Deficiency, X-Linked

Articles related to Radial Ray Deficiency, X-Linked:

(show all 26)
# Title Authors PMID Year
1
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males. 57
11571552 2001
2
Prevalence and risk factors of radial ray deficiencies: A population-based case-control study. 61
33369153 2021
3
The Classification of VACTERL Association into 3 Groups According to the Limb Defect. 61
33680640 2021
4
Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus. 61
30193563 2019
5
Two Cases of Radial Ray Deficiency With Absence of First Metacarpus and 2 Tiny Fingers. 61
30211736 2019
6
A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4. 61
30428788 2018
7
The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome. 61
27981927 2016
8
Reconstruction of active elbow flexion in patients with radial ray deficiency: report of two cases. 61
25441570 2014
9
Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36. 61
23686920 2013
10
The ubiquitin/SUMO pathway and radial ray deficiency syndromes. 61
22395051 2013
11
Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study. 61
23322606 2013
12
Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology. 61
21862914 2013
13
Associated malformations among infants with radial ray deficiency. 61
24032294 2013
14
A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. 61
22903933 2012
15
Congenital upper limb deficiencies and associated malformations in Finland: a population-based study. 61
21601997 2011
16
WNT pathways and upper limb anomalies. 61
20709709 2011
17
VACTERL association with a cleft hand. 61
14684968 2003
18
Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4-5 synostosis. 61
10631924 1999
19
Radial ray deficiency and ulnar ray deficiency in two sibs. 61
1642817 1992
20
Experimental study of radial ray deficiency. 61
2269841 1990
21
[Experimental study on radial ray deficiency in rat]. 61
2266302 1990
22
Congenital hand anomalies in Japan: a family study. 61
2348062 1990
23
Clinical and experimental studies on ulnar ray deficiency. 61
3234954 1988
24
Radial ray deficiency. 61
3429657 1987
25
[Diagnostic and genetic aspects of congenital radial ray deficiency]. 61
4076903 1985
26
[An angiographic study of congenital hand anomalies (author's transl)]. 61
6268720 1981

Variations for Radial Ray Deficiency, X-Linked

ClinVar genetic disease variations for Radial Ray Deficiency, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX5 NM_000192.3(TBX5):c.253C>A (p.Pro85Thr) SNV Likely pathogenic 626359 rs1565941579 GRCh37: 12:114837427-114837427
GRCh38: 12:114399622-114399622

Expression for Radial Ray Deficiency, X-Linked

Search GEO for disease gene expression data for Radial Ray Deficiency, X-Linked.

Pathways for Radial Ray Deficiency, X-Linked

GO Terms for Radial Ray Deficiency, X-Linked

Sources for Radial Ray Deficiency, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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