MCID: RDL033
MIFTS: 20

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Categories: Genetic diseases, Blood 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 75 29 6
Radioulnar Synostosis and Amegakaryocytic Thrombocytopenia 2 75 6
Rusat2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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)

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

UniProtKB/Swiss-Prot : 75 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

Diseases in the Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 family:

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Symptoms & Phenotypes for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hydrocele testis 32 HP:0000034
2 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
3 thrombocytopenia 32 HP:0001873
4 neutropenia 32 HP:0001875
5 anemia 32 HP:0001903
6 congenital thrombocytopenia 32 HP:0001905
7 radioulnar synostosis 32 HP:0002974
8 limited pronation/supination of forearm 32 HP:0006394
9 overlapping fingers 32 HP:0010557

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:

41
Bone, Testis, Bone Marrow

Publications for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Variations for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MECOM NM_004991.3(MECOM): c.2830A> G (p.Thr944Ala) single nucleotide variant Pathogenic rs864309722 GRCh37 Chromosome 3, 168818692: 168818692
2 MECOM NM_004991.3(MECOM): c.2830A> G (p.Thr944Ala) single nucleotide variant Pathogenic rs864309722 GRCh38 Chromosome 3, 169100904: 169100904
3 MECOM NM_004991.3(MECOM): c.2816A> G (p.His939Arg) single nucleotide variant Pathogenic rs864309723 GRCh38 Chromosome 3, 169100918: 169100918
4 MECOM NM_004991.3(MECOM): c.2816A> G (p.His939Arg) single nucleotide variant Pathogenic rs864309723 GRCh37 Chromosome 3, 168818706: 168818706
5 MECOM NM_004991.3(MECOM): c.2812C> T (p.Arg938Trp) single nucleotide variant Pathogenic rs864309724 GRCh38 Chromosome 3, 169100922: 169100922
6 MECOM NM_004991.3(MECOM): c.2812C> T (p.Arg938Trp) single nucleotide variant Pathogenic rs864309724 GRCh37 Chromosome 3, 168818710: 168818710

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

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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