MCID: ALP087
MIFTS: 27

Alpha-Heavy Chain Disease malady

Categories: Cancer diseases, Blood diseases, Rare diseases, Gastrointestinal diseases, Immune diseases

Aliases & Classifications for Alpha-Heavy Chain Disease

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Alpha-Heavy Chain Disease:

Name: Alpha-Heavy Chain Disease 51
Immunoproliferative Small Intestinal Disease 51 65
Mediterranean Lymphoma 51
 
Alpha-Hcd 51
Ipsid 51

Characteristics:

Orphanet epidemiological data:

51
immunoproliferative small intestinal disease:
Age of onset: Adolescent,Adult; Age of death: adult

Classifications:



External Ids:

Orphanet51 100025
ICD10 via Orphanet28 C88.3
ICD1027 C88.3
UMLS65 C0021071

Summaries for Alpha-Heavy Chain Disease

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MalaCards based summary: Alpha-Heavy Chain Disease, also known as immunoproliferative small intestinal disease, is related to alpha chain disease and heavy chain disease, and has symptoms including weight loss, malabsorption and abnormal immunoglobulin level. Affiliated tissues include small intestine, colon and liver.

Related Diseases for Alpha-Heavy Chain Disease

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Graphical network of the top 20 diseases related to Alpha-Heavy Chain Disease:



Diseases related to alpha-heavy chain disease

Symptoms for Alpha-Heavy Chain Disease

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Symptoms:

 51 (show all 17)
  • intestinal/colonic anomaly
  • malabsorption/chronic diarrhea/steatorrhea
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • acute abdominal pain/colic
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • hypocalcemia
  • alopecia
  • ascitis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • lymphadenopathy/polyadenopathies
  • precocious menopause/secondary amenorrhea
  • lymphoma
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • fever/chilling

HPO human phenotypes related to Alpha-Heavy Chain Disease:

(show all 14)
id Description Frequency HPO Source Accession
1 weight loss hallmark (90%) HP:0001824
2 malabsorption hallmark (90%) HP:0002024
3 abnormal immunoglobulin level hallmark (90%) HP:0010701
4 anemia typical (50%) HP:0001903
5 abdominal pain typical (50%) HP:0002027
6 hypocalcemia typical (50%) HP:0002901
7 secondary amenorrhea occasional (7.5%) HP:0000869
8 ascites occasional (7.5%) HP:0001541
9 alopecia occasional (7.5%) HP:0001596
10 splenomegaly occasional (7.5%) HP:0001744
11 hepatomegaly occasional (7.5%) HP:0002240
12 lymphoma occasional (7.5%) HP:0002665
13 lymphadenopathy occasional (7.5%) HP:0002716
14 abnormality of temperature regulation occasional (7.5%) HP:0004370

Drugs & Therapeutics for Alpha-Heavy Chain Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alpha-Heavy Chain Disease

Genetic Tests for Alpha-Heavy Chain Disease

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Anatomical Context for Alpha-Heavy Chain Disease

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MalaCards organs/tissues related to Alpha-Heavy Chain Disease:

33
Small intestine, Colon, Liver, Breast, Lymph node, Myeloid, B cells

Animal Models for Alpha-Heavy Chain Disease or affiliated genes

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Publications for Alpha-Heavy Chain Disease

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Articles related to Alpha-Heavy Chain Disease:

(show all 38)
idTitleAuthorsYear
1
Categorical perception of emotional facial expressions in alcohol-dependence. (26433563)
2015
2
Anton's syndrome with atypical presentation. (26143471)
2015
3
Large Outbreak of Botulism Associated with a Church Potluck Meal--Ohio, 2015. (26225479)
2015
4
Progenitor "Mycobacterium canettii" Clone Responsible for Lymph Node Tuberculosis Epidemic, Djibouti. (24378119)
2014
5
Immune-dependent and independent antitumor activity of GM-CSF aberrantly expressed by mouse and human colorectal tumors. (23108143)
2013
6
Prevalence of atopy and respiratory allergic diseases in the elderly SAPALDIA population. (23921456)
2013
7
A Novel Translocation Involving RUNX1 and HOXA Gene Clusters in a Case of Acute Myeloid Leukemia with t(7;21)(p15;q22). (24198749)
2013
8
Poorly differentiated synovial sarcoma is associated with high expression of enhancer of zeste homologue 2 (EZH2). (23110793)
2012
9
HIV latency. (22229121)
2011
10
An evolutionary analysis of RAC2 identifies haplotypes associated with human autoimmune diseases. (21680873)
2011
11
Is asymptomatic non-chlamydial non-gonococcal urethritis associated with significant clinical consequences in men and their sexual partners: a systematic review. (21680671)
2011
12
Targeting interleukin-21 in rheumatoid arthritis. (20848219)
2011
13
Right ventricular outflow tract stenting in a low birth weight infant born with tetralogy of fallot and prostaglandin e1 dependency. (22259605)
2011
14
Cisplatin reduces Brucella melitensis-infected cell number by inducing apoptosis, oxidant and pro-inflammatory cytokine production. (19818462)
2010
15
I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis. (19371218)
2009
16
Loss of Drp1 function alters OPA1 processing and changes mitochondrial membrane organization. (19409380)
2009
17
Successful treatment of prosthetic knee Candida glabrata infection with caspofungin combined with flucytosine. (18242959)
2008
18
Sickle cell anemia, the first molecular disease: overview of molecular etiology, pathophysiology, and therapeutic approaches. (19112541)
2008
19
Classification, treatment, and outcome of osteochondritis dissecans of the humeral capitellum. (17545422)
2007
20
Expression of HDAC1 and CBP/p300 in human colorectal carcinomas. (17720775)
2007
21
Structural brain abnormalities in early-onset schizophrenia. (17057878)
2006
22
Protein kinase Ciota promotes nicotine-induced migration and invasion of cancer cells via phosphorylation of micro- and m-calpains. (16361262)
2006
23
Expression of mucins (MUC1, MUC2, MUC3, MUC4, MUC5AC and MUC6) and their prognostic significance in human breast cancer. (15976813)
2005
24
High-level coexpression of JAG1 and NOTCH1 is observed in human breast cancer and is associated with poor overall survival. (16166334)
2005
25
Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease. (14687036)
2004
26
Nemaline myopathy in neck muscle after radiotherapy. (15138944)
2004
27
Infertility despite surgery for cryptorchidism in childhood can be classified by patients with normal or elevated follicle-stimulating hormone and identified at orchidopexy. (12699482)
2003
28
Phase II study of alpha2 interferon in the treatment of the chronic myeloproliferative disorders (E5487): a trial of the Eastern Cooperative Oncology Group. (12833462)
2003
29
The amino acid sequence 442GDASE446 in Na/K-ATPase is an important motif in forming the high and low affinity ATP binding pockets. (14522987)
2003
30
Selection of the dominant follicle and insulin-like growth factor (IGF)-binding proteins: evidence that pregnancy-associated plasma protein A contributes to proteolysis of IGF-binding protein 5 in bovine follicular fluid. (12538602)
2003
31
Disruption of the B-cell specific transcriptional program in HHV-8 associated primary effusion lymphoma cell lines. (12592383)
2003
32
On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe. (11313751)
2001
33
TMJ morphology and function in a patient with Klippel-Trenaunay syndrome. Case report. (10863881)
2000
34
Intracellular signaling is changed after clustering of the neural cell adhesion molecules axonin-1 and NgCAM during neurite fasciculation. (8858178)
1996
35
Influence of naloxone on muscle sympathetic nerve activity, systemic and calf haemodynamics and ambulatory blood pressure after exercise in mild essential hypertension. (7629406)
1995
36
Tyrosines 1021 and 1009 are phosphorylation sites in the carboxy terminus of the platelet-derived growth factor receptor beta subunit and are required for binding of phospholipase C gamma and a 64-kilodalton protein, respectively. (7678051)
1993
37
Cavernous sinus thrombophlebitis (CST) in Zimbabwe. (1486621)
1992
38
TREATMENT OF MYXEDEMA COMA WITH INTRAVENOUS THYROXINE. (14067598)
1964

Variations for Alpha-Heavy Chain Disease

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Expression for genes affiliated with Alpha-Heavy Chain Disease

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Search GEO for disease gene expression data for Alpha-Heavy Chain Disease.

Pathways for genes affiliated with Alpha-Heavy Chain Disease

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GO Terms for genes affiliated with Alpha-Heavy Chain Disease

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Sources for Alpha-Heavy Chain Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet