MCID: RDL039
MIFTS: 19

Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Categories: Bone diseases, Fetal diseases, Blood diseases, Rare diseases

Aliases & Classifications for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

MalaCards integrated aliases for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome:

Name: Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 59
Atrus Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA71289
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 74 C1854273

Summaries for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

MalaCards based summary : Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome, also known as atrus syndrome, is related to radioulnar synostosis and synostosis. An important gene associated with Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome is HOXA11 (Homeobox A11). Affiliated tissues include bone, and related phenotypes are sensorineural hearing impairment and hip dysplasia

Related Diseases for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Diseases related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 radioulnar synostosis 9.3 HOXA11 MECOM
2 synostosis 9.2 HOXA11 MECOM
3 thrombocytopenia 9.0 HOXA11 MECOM

Symptoms & Phenotypes for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Human phenotypes related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
2 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
3 radioulnar synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002974
4 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
5 amegakaryocytic thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0004859
6 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101

MGI Mouse Phenotypes related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome:

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# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 HOXA11 MECOM

Drugs & Therapeutics for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Search Clinical Trials , NIH Clinical Center for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Genetic Tests for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Anatomical Context for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

MalaCards organs/tissues related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome:

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Bone

Publications for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Variations for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

ClinVar genetic disease variations for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome:

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# Gene Variation Type Significance SNP ID Assembly Location
1 HOXA11 NM_005523.5(HOXA11): c.872delA (p.Asn291Thrfs) deletion Pathogenic rs864321666 GRCh37 Chromosome 7, 27222485: 27222485
2 HOXA11 NM_005523.5(HOXA11): c.872delA (p.Asn291Thrfs) deletion Pathogenic rs864321666 GRCh38 Chromosome 7, 27182866: 27182866

Expression for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Search GEO for disease gene expression data for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome.

Pathways for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

GO Terms for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Biological processes related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 8.62 HOXA11 MECOM

Molecular functions related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.62 HOXA11 MECOM

Sources for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

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
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