RUSAT1
MCID: RDL034
MIFTS: 23

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 (RUSAT1)

Categories: Blood diseases, Bone diseases, Genetic 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 72 29 6
Thrombocytopenia, Congenital, with Radioulnar Synostosis 57 72
Rusat1 57 72
Rusat 57 72
Ctrus 57 72
Thrombocytopenia, Congenital, with Radioulnar Synostosis; Ctrus 57
Radio-Ulnar Synostosis with Amegakaryocytic Thrombocytopenia 72
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 70

Characteristics:

OMIM®:

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


HPO:

31
radioulnar synostosis with amegakaryocytic thrombocytopenia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 605432
OMIM Phenotypic Series 57 PS605432
UMLS 70 C1854273

Summaries for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

UniProtKB/Swiss-Prot : 72 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 thrombocytopenia, congenital, with radioulnar synostosis, is related to radioulnar synostosis, nonsyndromic and 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 marrow, and related phenotypes are sensorineural hearing impairment and clinodactyly of the 5th finger

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) (Updated 05-Apr-2021)

Related Diseases for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Diseases in the Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 family:

Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

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, nonsyndromic 10.9
2 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 10.9
3 synostosis 9.9
4 thrombocytopenia 9.9
5 radioulnar synostosis 9.9
6 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 9.9

Graphical network of the top 20 diseases related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:



Diseases related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Symptoms & Phenotypes for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Human phenotypes related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 clinodactyly of the 5th finger 31 HP:0004209
3 hip dislocation 31 HP:0002827
4 petechiae 31 HP:0000967
5 proximal radio-ulnar synostosis 31 HP:0005037
6 radial bowing 31 HP:0002986
7 ulnar bowing 31 HP:0003031
8 syndactyly 31 HP:0001159
9 amegakaryocytic thrombocytopenia 31 HP:0004859
10 shallow acetabular fossae 31 HP:0003182
11 aplastic anemia 31 HP:0001915
12 limited pronation/supination of forearm 31 HP:0006394
13 congenital thrombocytopenia 31 HP:0001905
14 megakaryocytopenia 31 HP:0005548

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Pelvis:
hip dislocation
shallow acetabulae

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

Skeletal Hands:
syndactyly
fifth finger clinodactyly

Laboratory Abnormalities:
normal karyotype
no chromosomal breakage

Skin Nails Hair Skin:
purpura
petechiae

Hematology:
pancytopenia
aplastic anemia
megakaryocytopenia
thrombocytopenia, congenital

Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM®:

605432 (Updated 05-Apr-2021)

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 1 29 HOXA11

Anatomical Context for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

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

40
Bone Marrow

Publications for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

Articles related to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1:

# Title Authors PMID Year
1
Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. 57 6
11101832 2000
2
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. 61 57
26581901 2015
3
Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. 57
11442476 2001
4
A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant. 61
30536840 2019

Variations for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1

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

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

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 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
Content
Loading form....