MCID: CNG530
MIFTS: 17

Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome

Categories: Blood diseases, Bone diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Progressive Bone Marrow Failure-B-Cell...

MalaCards integrated aliases for Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome:

Name: Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 58
Mysm1 Deficiency 58

Classifications:

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


External Ids:

Orphanet 58 ORPHA508542

Summaries for Congenital Progressive Bone Marrow Failure-B-Cell...

MalaCards based summary : Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome, also known as mysm1 deficiency, is related to bone marrow failure syndrome 4 and panniculitis. An important gene associated with Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome is MYSM1 (Myb Like, SWIRM And MPN Domains 1). Affiliated tissues include bone, bone marrow and b cells, and related phenotypes are intellectual disability and coarse facial features

Related Diseases for Congenital Progressive Bone Marrow Failure-B-Cell...

Diseases related to Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bone marrow failure syndrome 4 10.1
2 panniculitis 10.1
3 lymphopenia 10.1
4 cataract 10.1

Symptoms & Phenotypes for Congenital Progressive Bone Marrow Failure-B-Cell...

Human phenotypes related to Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome:

58 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 Frequent (79-30%)
2 coarse facial features 58 Frequent (79-30%)
3 hearing impairment 58 Occasional (29-5%)
4 cataract 58 Occasional (29-5%)
5 gingival overgrowth 58 Occasional (29-5%)
6 abnormal facial shape 58 Frequent (79-30%)
7 brachydactyly 58 Occasional (29-5%)
8 short stature 58 Frequent (79-30%)
9 short metacarpal 58 Occasional (29-5%)
10 midface retrusion 58 Occasional (29-5%)
11 subcutaneous nodule 58 Occasional (29-5%)
12 anemia 58 Very frequent (99-80%)
13 bone marrow hypocellularity 58 Very frequent (99-80%)
14 myelodysplasia 58 Frequent (79-30%)
15 dry skin 58 Occasional (29-5%)
16 recurrent upper respiratory tract infections 58 Frequent (79-30%)
17 delayed eruption of teeth 58 Occasional (29-5%)
18 abnormality of the thorax 58 Occasional (29-5%)
19 congestive heart failure 58 Frequent (79-30%)
20 neurodevelopmental delay 58 Frequent (79-30%)
21 thrombocytopenia 58 Frequent (79-30%)
22 neutropenia 58 Frequent (79-30%)
23 trigonocephaly 58 Occasional (29-5%)
24 lymphopenia 58 Frequent (79-30%)
25 eczema 58 Occasional (29-5%)
26 recurrent lower respiratory tract infections 58 Occasional (29-5%)
27 b lymphocytopenia 58 Frequent (79-30%)
28 tricuspid regurgitation 58 Occasional (29-5%)
29 leukopenia 58 Frequent (79-30%)
30 short humerus 58 Occasional (29-5%)
31 panniculitis 58 Occasional (29-5%)
32 noncompaction cardiomyopathy 58 Occasional (29-5%)
33 reticulocytopenia 58 Frequent (79-30%)
34 cerebral hypoplasia 58 Frequent (79-30%)
35 broad clavicles 58 Occasional (29-5%)
36 rhizomelic arm shortening 58 Occasional (29-5%)
37 erythroid dysplasia 58 Frequent (79-30%)
38 megakaryocyte dysplasia 58 Frequent (79-30%)

Drugs & Therapeutics for Congenital Progressive Bone Marrow Failure-B-Cell...

Search Clinical Trials , NIH Clinical Center for Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome

Genetic Tests for Congenital Progressive Bone Marrow Failure-B-Cell...

Anatomical Context for Congenital Progressive Bone Marrow Failure-B-Cell...

MalaCards organs/tissues related to Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome:

40
Bone, Bone Marrow, B Cells, Liver, Heart, Skin, Fetal Liver

Publications for Congenital Progressive Bone Marrow Failure-B-Cell...

Articles related to Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome:

# Title Authors PMID Year
1
Neutrophilic Panniculitis in a child with MYSM1 deficiency. 61
30746751 2019
2
Loss of p53 compensates osteopenia in murine Mysm1 deficiency. 61
29203593 2018
3
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations. 61
28115216 2017
4
MYSM1/miR-150/FLT3 inhibits B1a cell proliferation. 61
27590507 2016
5
Repression of p53-target gene Bbc3/PUMA by MYSM1 is essential for the survival of hematopoietic multipotent progenitors and contributes to stem cell maintenance. 61
26768662 2016
6
Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes. 61
26474655 2015
7
Interplay of H2A deubiquitinase 2A-DUB/Mysm1 and the p19(ARF)/p53 axis in hematopoiesis, early T-cell development and tissue differentiation. 61
25613381 2015
8
Deubiquitinase MYSM1 Is Essential for Normal Fetal Liver Hematopoiesis and for the Maintenance of Hematopoietic Stem Cells in Adult Bone Marrow. 61
26125289 2015
9
p53 mediates loss of hematopoietic stem cell function and lymphopenia in Mysm1 deficiency. 61
25710881 2015
10
Control of B cell development by the histone H2A deubiquitinase MYSM1. 61
22169041 2011

Variations for Congenital Progressive Bone Marrow Failure-B-Cell...

Expression for Congenital Progressive Bone Marrow Failure-B-Cell...

Search GEO for disease gene expression data for Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome.

Pathways for Congenital Progressive Bone Marrow Failure-B-Cell...

GO Terms for Congenital Progressive Bone Marrow Failure-B-Cell...

Sources for Congenital Progressive Bone Marrow Failure-B-Cell...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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