MCID: BCL016
MIFTS: 14

B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

Categories: Immune diseases

Aliases & Classifications for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

MalaCards integrated aliases for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations:

Name: B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 56 71
Hoffman Syndrome 56
Bilu Syndrome 56

Classifications:



External Ids:

OMIM 56 609296
MedGen 41 C1836437
UMLS 71 C1836437

Summaries for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

OMIM : 56 The BILU syndrome comprises humoral immunodeficiency, distal limb anomalies, dysmorphic facial features, and urogenital malformations inherited in an autosomal dominant pattern. The disorder referred to as Hoffman syndrome shows many similar features, suggesting that they represent the same disorder (summary by Hugle et al., 2011). (609296)

MalaCards based summary : B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations, also known as hoffman syndrome, is related to muscular pseudohypertrophy-hypothyroidism syndrome and b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome. Affiliated tissues include b cells and spinal cord.

Related Diseases for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

Diseases related to B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular pseudohypertrophy-hypothyroidism syndrome 11.8
2 b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome 11.3
3 agammaglobulinemia, x-linked 10.0
4 common variable immunodeficiency 10.0
5 b cell deficiency 10.0
6 agammaglobulinemia 10.0
7 myopathy 10.0
8 sheehan syndrome 10.0
9 myotonia 10.0

Graphical network of the top 20 diseases related to B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations:



Diseases related to B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

Symptoms & Phenotypes for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

Clinical features from OMIM:

609296

Drugs & Therapeutics for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

Search Clinical Trials , NIH Clinical Center for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

Genetic Tests for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

Anatomical Context for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

MalaCards organs/tissues related to B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations:

40
B Cells, Spinal Cord

Publications for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

Articles related to B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations:

(show all 14)
# Title Authors PMID Year
1
Hoffman syndrome: New patients, new insights. 56 61
21204224 2011
2
Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family. 56 61
15521984 2004
3
B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? 56
11476068 2001
4
Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome. 56
11152140 2001
5
Chronic Sheehan syndrome presenting as pseudo-hypertrophic myopathy (Hoffman syndrome): A very rare combination. 61
27147175 2016
6
Teaching video neuroimages: involuntary muscle contractions in Hoffman syndrome. 61
20805532 2010
7
Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. 61
11283611 2001
8
French angles: a simple aid to neurodevelopmental examination. 61
2599841 1989
9
Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis. 61
6842261 1983
10
[Intermediate forms of infantile spinal amyotrophy. Apropos of 20 personal observations]. 61
674984 1978
11
[Diagnosis of the Werdnig-Hoffman syndrome in the newborn age. (Apropos of a case)]. 61
1012213 1976
12
[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
13
[Charcot-Marie-Tooth-Hoffman syndrome]. 61
5734735 1968
14
[SOME CLINICAL AND PATHOGENETIC CONSIDERATIONS ON THE HOFFMAN SYNDROME (MYXEDEMATOUS MYOTONIA). DESCRIPTION OF A CASE]. 61
14162450 1964

Variations for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

Expression for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

Search GEO for disease gene expression data for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations.

Pathways for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

GO Terms for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

Sources for B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital...

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
Content
Loading form....