MCID: RDL039
MIFTS: 25

Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Categories: Blood diseases, Bone diseases, Fetal 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 58
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 36 29 39
Atrus Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

KEGG 36 H00867
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 71 C1854273
Orphanet 58 ORPHA71289

Summaries for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

KEGG : 36 This disease is a rare combination of proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The disease is related with HOXA11 mutation.

MalaCards based summary : Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome, also known as radioulnar synostosis with amegakaryocytic thrombocytopenia, is related to synostosis and thrombocytopenia, and has symptoms including petechiae of skin An important gene associated with Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome is HOXA11 (Homeobox A11). Affiliated tissues include bone marrow, and related phenotypes are clinodactyly of the 5th finger and radioulnar synostosis

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 synostosis 30.1 MECOM HOXA11
2 thrombocytopenia 30.1 MECOM HOXA11
3 radioulnar synostosis 29.9 MECOM HOXA11
4 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 12.1
5 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.1
6 inherited bone marrow failure syndromes 10.3

Graphical network of the top 20 diseases related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome:



Diseases related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

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

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

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
2 radioulnar synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002974
3 amegakaryocytic thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0004859
4 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
5 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
6 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101

UMLS symptoms related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome:


petechiae of skin

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

46
# 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

Genetic tests related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome:

# Genetic test Affiliating Genes
1 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 29

Anatomical Context for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

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

40
Bone Marrow

Publications for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Articles related to Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome:

# Title Authors PMID Year
1
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. 61 6
26581901 2015
2
A case of congenital bone marrow failure with radio-ulnar synostosis. 6
20091385 2010
3
Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. 6
11101832 2000
4
A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant. 61
30536840 2019

Variations for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXA11 NM_005523.5(HOXA11):c.872del (p.Asn291fs) Deletion Pathogenic 14897 rs864321666 GRCh37: 7:27222485-27222485
GRCh38: 7:27182866-27182866
2 MECOM NM_004991.4(MECOM):c.2830A>G (p.Thr944Ala) SNV Pathogenic 218951 rs864309722 GRCh37: 3:168818692-168818692
GRCh38: 3:169100904-169100904
3 MECOM NM_004991.4(MECOM):c.2816A>G (p.His939Arg) SNV Pathogenic 218952 rs864309723 GRCh37: 3:168818706-168818706
GRCh38: 3:169100918-169100918
4 MECOM NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) SNV Conflicting interpretations of pathogenicity 218953 rs864309724 GRCh37: 3:168818710-168818710
GRCh38: 3:169100922-169100922

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 multicellular organism development GO:0007275 8.96 MECOM HOXA11
2 positive regulation of transcription, DNA-templated GO:0045893 8.62 MECOM HOXA11

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.62 MECOM HOXA11

Sources for Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

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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