MCID: BCL019
MIFTS: 13

B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome

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

Aliases & Classifications for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

MalaCards integrated aliases for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome:

Name: B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome 58
Hoffman Syndrome 58
Bilu Syndrome 58

Classifications:

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


External Ids:

Orphanet 58 ORPHA567502

Summaries for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

MalaCards based summary : B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome, also known as hoffman syndrome, is related to b-cell immunodeficiency, distal limb anomalies, and urogenital malformations and agammaglobulinemia, x-linked. An important gene associated with B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome is TOP2B (DNA Topoisomerase II Beta). Affiliated tissues include b cells, bone and spinal cord.

Related Diseases for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

Diseases related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations 12.1
2 agammaglobulinemia, x-linked 10.0
3 common variable immunodeficiency 10.0
4 b cell deficiency 10.0
5 agammaglobulinemia 10.0
6 myopathy 10.0
7 sheehan syndrome 10.0
8 myotonia 10.0

Graphical network of the top 20 diseases related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome:



Diseases related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome

Symptoms & Phenotypes for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

Drugs & Therapeutics for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

Search Clinical Trials , NIH Clinical Center for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome

Genetic Tests for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

Anatomical Context for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

MalaCards organs/tissues related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome:

40
B Cells, Bone, Spinal Cord

Publications for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

Articles related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome:

(show all 11)
# Title Authors PMID Year
1
Chronic Sheehan syndrome presenting as pseudo-hypertrophic myopathy (Hoffman syndrome): A very rare combination. 61
27147175 2016
2
Hoffman syndrome: New patients, new insights. 61
21204224 2011
3
Teaching video neuroimages: involuntary muscle contractions in Hoffman syndrome. 61
20805532 2010
4
Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. 61
11283611 2001
5
French angles: a simple aid to neurodevelopmental examination. 61
2599841 1989
6
Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis. 61
6842261 1983
7
[Intermediate forms of infantile spinal amyotrophy. Apropos of 20 personal observations]. 61
674984 1978
8
[Diagnosis of the Werdnig-Hoffman syndrome in the newborn age. (Apropos of a case)]. 61
1012213 1976
9
[Variants of neuromuscular pathology in a case of familial-hereditary disease (the Werdnig-Hoffman syndrome and the Wolfart-Kugelberg-Welander syndrome in two sisters)]. 61
5370144 1969
10
[Charcot-Marie-Tooth-Hoffman syndrome]. 61
5734735 1968
11
[SOME CLINICAL AND PATHOGENETIC CONSIDERATIONS ON THE HOFFMAN SYNDROME (MYXEDEMATOUS MYOTONIA). DESCRIPTION OF A CASE]. 61
14162450 1964

Variations for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

Expression for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

Search GEO for disease gene expression data for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome.

Pathways for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

GO Terms for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

Sources for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...

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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