Isolated Agammaglobulinemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ISL085 MIFTS: 20	Isolated Agammaglobulinemia Categories: Blood diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Isolated Agammaglobulinemia

MalaCards integrated aliases for Isolated Agammaglobulinemia:

Name: Isolated Agammaglobulinemia ⁵⁸

Isolated Hypogammaglobulinemia ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

isolated agammaglobulinemia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of porphyrin and bilirubin metabolism

Hereditary erythropoietic porphyria

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

ICD10 via Orphanet ³³ E80.0

UMLS via Orphanet ⁷² C0001768 C0086438

Orphanet ⁵⁸ ORPHA229717

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Summaries for Isolated Agammaglobulinemia

MalaCards based summary : Isolated Agammaglobulinemia, also known as isolated hypogammaglobulinemia, is related to pericarditis. Affiliated tissues include skin, bone and eye, and related phenotypes are failure to thrive and recurrent respiratory infections

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Related Diseases for Isolated Agammaglobulinemia

Diseases related to Isolated Agammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	pericarditis	9.9

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Symptoms & Phenotypes for Isolated Agammaglobulinemia

Human phenotypes related to Isolated Agammaglobulinemia:

⁵⁸ ³¹ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	failure to thrive ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001508
2	recurrent respiratory infections ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002205
3	fatigue ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012378
4	fever ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001945
5	immunodeficiency ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002721
6	skin rash ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000988
7	skin ulcer ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0200042
8	sinusitis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000246
9	recurrent cutaneous abscess formation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100838
10	diarrhea ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002014
11	otitis media ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000388
12	inflammatory abnormality of the eye ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100533
13	abnormal lymphocyte morphology ³¹	hallmark (90%)		HP:0004332
14	pneumonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002090
15	abnormality of neutrophils ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001874
16	arthritis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001369
17	abnormal facial shape ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001999
18	malabsorption ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002024
19	short stature ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004322
20	anemia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001903
21	autoimmunity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002960
22	thrombocytopenia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001873
23	abnormality of the tonsils ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100765
24	cellulitis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100658
25	meningitis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001287
26	sepsis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100806
27	clinodactyly of the 5th toe ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001864
28	abnormality of the lymphatic system ⁵⁸		Frequent (79-30%)
29	abnormality of lymphocytes ⁵⁸		Very frequent (99-80%)

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Drugs & Therapeutics for Isolated Agammaglobulinemia

Search Clinical Trials , NIH Clinical Center for Isolated Agammaglobulinemia

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Genetic Tests for Isolated Agammaglobulinemia

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Anatomical Context for Isolated Agammaglobulinemia

MalaCards organs/tissues related to Isolated Agammaglobulinemia:

⁴⁰

Skin, Bone, Eye, Tonsil, B Cells, Neutrophil, Bone Marrow

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Publications for Isolated Agammaglobulinemia

Articles related to Isolated Agammaglobulinemia:

(show all 32)

#	Title	Authors	PMID	Year
1	Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. ⁶¹ ⁶	Holinski-Feder E...Meindl A	9445504	1998
2	Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency. ⁶	Keller B...Wienands J	29636373	2018
3	[A retrospective study of one case of X-linked agammaglobulinemia]. ⁶	Li DX...Wang J	17327079	2006
4	Genetic analysis of patients with defects in early B-cell development. ⁶	Conley ME...Shurtleff SA	15661032	2005
5	Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients. ⁶	Jo EK...Miyawaki T	12768435	2003
6	Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. ⁶	Tani SM...Miyawaki T	12204007	2002
7	Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. ⁶	Noordzij JG...van Dongen JJ	11809909	2002
8	Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. ⁶	Kanegane H...Miyawaki T	11742281	2001
9	Development of type 1 diabetes despite severe hereditary B-cell deficiency. ⁶	Martin S...Roep BO	11586956	2001
10	Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families. ⁶	Jo EK...Miyawaki T	11564824	2001
11	Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece. ⁶	Speletas M...Ritis K	11555397	2001
12	A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. ⁶	Wood PM...Kumararatne DS	11445810	2001
13	X-Linked Agammaglobulinemia ⁶	Smith CIE...Berglof A	20301626	2001
14	Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. ⁶	Curtis SK...Saha BK	10678660	2000
15	Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. ⁶	Vorechovsky I...Smith CI	9143921	1997
16	Discordant phenotype in siblings with X-linked agammaglobulinemia. ⁶	Bykowsky MJ...Sullivan KE	8644706	1996
17	The spectrum of mutations in Btk that cause X-linked agammaglobulinemia. ⁶	Conley ME...Rohrer J	7554467	1995
18	Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. ⁶	Vihinen M...Sowadski JM	7809124	1994
19	Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. ⁶	Zhu Q...Ochs HD	7849721	1994
20	Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. ⁶	Hagemann TL...Kwan SP	7880320	1994
21	Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. ⁶	Conley ME...Rohrer J	7849697	1994
22	Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. ⁶	Ohta Y...Litman GW	8090769	1994
23	Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. ⁶	Saffran DC...Conley ME	8164701	1994
24	Assessing inheritance of agammaglobulinemia. ⁶	Buckley RH	8164707	1994
25	Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. ⁶	Bradley LA...Kinnon C	8162056	1994
26	Human genetics. Becoming B cells. ⁶	Desiderio S	7678697	1993
27	The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. ⁶	Vetrie D...Bobrow M	8380905	1993
28	Carrier detection in typical and atypical X-linked agammaglobulinemia. ⁶	Conley ME...Puck JM	2896233	1988
29	Agammaglobulinemia, neutropenia, fever, and abdominal pain. ⁶	Buckley RH...Rowlands DT	4697357	1973
30	A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. ⁶¹	Boisson B...Conley ME	24216514	2013
31	Visualization of amyloid arthropathy in light-chain systemic amyloidosis on F-18 FDG PET/CT scan. ⁶¹	Mekinian A...Fain O	21157212	2011
32	Clinical features and follow-up of Chinese patients with symptomatic hypogammaglobulinemia in infancy. ⁶¹	Qian JH...Chen TX	19781364	2009

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Genes for Isolated Agammaglobulinemia

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Variations for Isolated Agammaglobulinemia

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Expression for Isolated Agammaglobulinemia

Search GEO for disease gene expression data for Isolated Agammaglobulinemia.

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Pathways for Isolated Agammaglobulinemia

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GO Terms for Isolated Agammaglobulinemia

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