MCID: RDL034
MIFTS: 22

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

MalaCards integrated aliases for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:

Name: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 57 75
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 37 29 13 6 40 73
Thrombocytopenia, Congenital, with Radioulnar Synostosis 57 75
Rusat1 57 75
Rusat 57 75
Ctrus 57 75
Thrombocytopenia, Congenital, with Radioulnar Synostosis; Ctrus 57
Radio-Ulnar Synostosis with Amegakaryocytic Thrombocytopenia 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
radioulnar synostosis with amegakaryocytic thrombocytopenia 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

UniProtKB/Swiss-Prot : 75 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1: The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation.

MalaCards based summary : Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1, also known as radioulnar synostosis with amegakaryocytic thrombocytopenia, is related to radioulnar synostosis with amegakaryocytic thrombocytopenia 2, and has symptoms including petechiae of skin An important gene associated with Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 is HOXA11 (Homeobox A11). Affiliated tissues include bone, bone marrow and skin, and related phenotypes are sensorineural hearing impairment and aplastic anemia

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). (605432)

Related Diseases for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Diseases in the Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 family:

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2

Diseases related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 11.0

Symptoms & Phenotypes for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Symptoms via clinical synopsis from OMIM:

57
Hematology:
pancytopenia
aplastic anemia
megakaryocytopenia
thrombocytopenia, congenital

Skin Nails Hair Skin:
purpura
petechiae

Skeletal Hands:
syndactyly
fifth finger clinodactyly

Laboratory Abnormalities:
normal karyotype
no chromosomal breakage

Skeletal Pelvis:
hip dislocation
shallow acetabulae

Skeletal Limbs:
limited pronation/supination of forearm
radial bowing
ulnar bowing
proximal radio-ulnar synostosis

Head And Neck Ears:
hearing loss, sensorineural


Clinical features from OMIM:

605432

Human phenotypes related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 aplastic anemia 32 HP:0001915
3 hip dislocation 32 HP:0002827
4 clinodactyly of the 5th finger 32 HP:0004209
5 petechiae 32 HP:0000967
6 limited pronation/supination of forearm 32 HP:0006394
7 radial bowing 32 HP:0002986
8 ulnar bowing 32 HP:0003031
9 syndactyly 32 HP:0001159
10 shallow acetabular fossae 32 HP:0003182
11 proximal radio-ulnar synostosis 32 HP:0005037
12 amegakaryocytic thrombocytopenia 32 HP:0004859
13 congenital thrombocytopenia 32 HP:0001905
14 megakaryocytopenia 32 HP:0005548

UMLS symptoms related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:


petechiae of skin

Drugs & Therapeutics for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Search Clinical Trials , NIH Clinical Center for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Genetic Tests for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Genetic tests related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:

# Genetic test Affiliating Genes
1 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 29 HOXA11

Anatomical Context for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

MalaCards organs/tissues related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:

41
Bone, Bone Marrow, Skin

Publications for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Articles related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:

# Title Authors Year
1
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. ( 26581901 )
2015

Variations for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

ClinVar genetic disease variations for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:

6
# 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 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Search GEO for disease gene expression data for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1.

Pathways for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

GO Terms for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Sources for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

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
Content
Loading form....