RUSAT2
MCID: RDL033
MIFTS: 21

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 (RUSAT2)

Categories: Blood diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

MalaCards integrated aliases for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2:

Name: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 57 72 29 6
Rusat2 57 72
Radioulnar Synostosis and Amegakaryocytic Thrombocytopenia 2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 3 unrelated patients (last curated january 2016)


HPO:

31
radioulnar synostosis with amegakaryocytic thrombocytopenia 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

OMIM® : 57 Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015). For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (605432). (616738) (Updated 05-Apr-2021)

MalaCards based summary : Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2, is also known as rusat2. An important gene associated with Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 is MECOM (MDS1 And EVI1 Complex Locus). Affiliated tissues include bone, bone marrow and testis, and related phenotypes are sensorineural hearing impairment and intellectual disability, mild

UniProtKB/Swiss-Prot : 72 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2: An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm, and congenital thrombocytopenia that progresses to pancytopenia.

Related Diseases for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Symptoms & Phenotypes for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Human phenotypes related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407
2 intellectual disability, mild 31 very rare (1%) HP:0001256
3 anemia 31 very rare (1%) HP:0001903
4 cleft palate 31 very rare (1%) HP:0000175
5 hydrops fetalis 31 very rare (1%) HP:0001789
6 radioulnar synostosis 31 very rare (1%) HP:0002974
7 neutropenia 31 very rare (1%) HP:0001875
8 overlapping fingers 31 very rare (1%) HP:0010557
9 hydrocele testis 31 very rare (1%) HP:0000034
10 congenital thrombocytopenia 31 very rare (1%) HP:0001905
11 short middle phalanx of the 4th finger 31 very rare (1%) HP:0009295
12 limited pronation/supination of forearm 31 HP:0006394

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Skeletal Limbs:
limited pronation of forearms
limited supination of forearms
bilateral proximal radioulnar synostosis

Hematology:
thrombocytopenia, congenital (progresses to pancytopenia)
absence of megakaryocytes in bone marrow
anemia, severe congenital (in some patients)
neutropenia, severe congenital (in some patients)

Skeletal Hands:
fifth-finger clinodactyly (in some patients)
bony defect of intermediate phalanges of fifth digits (in some patients)
brachymesophalangia of fourth digits (in some patients)
overlapping fingers without bone abnormalities (in some patients)

Skin Nails Hair Skin:
petechiae, congenital systemic (in some patients)
ecchymoses, congenital (in some patients)

Clinical features from OMIM®:

616738 (Updated 05-Apr-2021)

Drugs & Therapeutics for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Search Clinical Trials , NIH Clinical Center for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Genetic Tests for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Genetic tests related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2:

# Genetic test Affiliating Genes
1 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 29 MECOM

Anatomical Context for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

MalaCards organs/tissues related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2:

40
Bone, Bone Marrow, Testis

Publications for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Articles related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2:

# Title Authors PMID Year
1
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. 6 57
26581901 2015
2
A case of congenital bone marrow failure with radio-ulnar synostosis. 6 57
20091385 2010

Variations for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

ClinVar genetic disease variations for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MECOM NM_004991.4(MECOM):c.2830A>G (p.Thr944Ala) SNV Pathogenic 218951 rs864309722 GRCh37: 3:168818692-168818692
GRCh38: 3:169100904-169100904
2 MECOM NM_004991.4(MECOM):c.2816A>G (p.His939Arg) SNV Pathogenic 218952 rs864309723 GRCh37: 3:168818706-168818706
GRCh38: 3:169100918-169100918
3 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

UniProtKB/Swiss-Prot genetic disease variations for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2:

72
# Symbol AA change Variation ID SNP ID
1 MECOM p.Arg929Trp VAR_076308 rs864309724
2 MECOM p.His930Arg VAR_076309 rs864309723
3 MECOM p.Thr935Ala VAR_076310 rs864309722

Expression for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Search GEO for disease gene expression data for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2.

Pathways for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

GO Terms for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Sources for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

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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