B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 609296

MedGen ⁴¹ C1836437

UMLS ⁷¹ C1836437

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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.

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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
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:

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

Clinical features from OMIM:

609296

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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

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

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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

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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	Hugle B...Schuster V	21204224	2011
2	Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family. ⁵⁶ ⁶¹	Tischkowitz M...Wilson LC	15521984	2004
3	B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? ⁵⁶	Edery P...Lyonnet S	11476068	2001
4	Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome. ⁵⁶	Hoffman HM...Bird LM	11152140	2001
5	Chronic Sheehan syndrome presenting as pseudo-hypertrophic myopathy (Hoffman syndrome): A very rare combination. ⁶¹	Kumar H...Meena BL	27147175	2016
6	Teaching video neuroimages: involuntary muscle contractions in Hoffman syndrome. ⁶¹	Loomis C...Levine JM	20805532	2010
7	Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. ⁶¹	Gangwani L...Davis RJ	11283611	2001
8	French angles: a simple aid to neurodevelopmental examination. ⁶¹	Quinn F...Kearney PJ	2599841	1989
9	Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis. ⁶¹	Clarren SK...Hall JG	6842261	1983
10	[Intermediate forms of infantile spinal amyotrophy. Apropos of 20 personal observations]. ⁶¹	Pou-Serradell A...Ugarte A	674984	1978
11	[Diagnosis of the Werdnig-Hoffman syndrome in the newborn age. (Apropos of a case)]. ⁶¹	Allemand F...Iannetti P	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	Il'ina NA...Kalmykova LG	5370144	1969
13	[Charcot-Marie-Tooth-Hoffman syndrome]. ⁶¹	Stranak V...Grieser H	5734735	1968
14	[SOME CLINICAL AND PATHOGENETIC CONSIDERATIONS ON THE HOFFMAN SYNDROME (MYXEDEMATOUS MYOTONIA). DESCRIPTION OF A CASE]. ⁶¹	MINOZZI M...SANNA G	14162450	1964

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

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

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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.

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

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

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