MCID: MNN041

Mannose-Binding Lectin Protein Deficiency malady

Category: Rare diseases

Aliases & Classifications for Mannose-Binding Lectin Protein Deficiency

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Aliases & Descriptions for Mannose-Binding Lectin Protein Deficiency:

Name: Mannose-Binding Lectin Protein Deficiency 48
Mannose-Binding Protein Deficiency 48 68
 
Mbl Deficiency 48

Classifications:



Summaries for Mannose-Binding Lectin Protein Deficiency

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NIH Rare Diseases:48 Mannose-binding lectin (mbl) deficiency results in a decreased amount of a specific protein (mannan-binding protein) involved in the immune system. it was originally thought that mbl deficiency resulted in an increased susceptibility to infections. however, low levels of this protein have been found in many healthy people. mbl deficiency is more likely to be associated with infections in toddlers and those who have a weakened immune system (immunocompromised), including those with an underlying medical condition, cancer patients undergoing chemotherapy, and organ-transplant patients. some studies have also suggested an association between severe mbl deficiency and recurrent infections. mbl deficiency is caused by changes in the mbl2 gene. however, it is important to note that changes in this gene are very common in the general population. treatment for individuals with recurrent infections and mbl deficiency may include antibiotics to treat bacterial infections and regular vaccinations. prophylactic antibiotics may be indicated in some cases. last updated: 11/23/2016

MalaCards based summary: Mannose-Binding Lectin Protein Deficiency, also known as mannose-binding protein deficiency, is related to chronic infections, due to mbl deficiency.

Related Diseases for Mannose-Binding Lectin Protein Deficiency

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Diseases related to Mannose-Binding Lectin Protein Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chronic infections, due to mbl deficiency11.4

Symptoms & Phenotypes for Mannose-Binding Lectin Protein Deficiency

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Drugs & Therapeutics for Mannose-Binding Lectin Protein Deficiency

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Drugs for Mannose-Binding Lectin Protein Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MelphalanapprovedPhase 1729148-82-34053, 460612
Synonyms:
(2S)-2-amino-3-[4-[bis(2-chloroethyl)amino]phenyl]propanoic acid
(2s)-2-amino-3-(4-[bis(2-chloroethyl)amino]phenyl)propanoic acid
148-82-3
3-(P-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
3-P-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3-p-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3025 C.B.
3025 c.b
3223-07-2
4-(Bis(2-chloroethyl)amino)-L-phenylalanine
4-14-00-01689 (Beilstein Handbook Reference)
4-[Bis(2-chloroethyl)amino]-L-phenylalanine
4-[Bis-(2-chloroethyl)amino]-L-phenylalanine
AC1LA2OE
ALKERAN (TN)
AY3360000
Alanine Nitrogen Mustard
Alkeran
AmbotzHAA1563
At-290
BIDD:GT0044
BRD-K87827419-001-02-8
BRN 2816456
BSPBio_002407
C13H18Cl2N2O2
CB 3025
CB-3025
CCRIS 374
CHEBI:165415
CHEBI:28876
CHEMBL852
CID460612
D00369
DivK1c_000653
EINECS 205-726-3
HMS2090B09
HMS2091B16
HMS502A15
HSDB 3234
IDI1_000653
KBio1_000653
KBio2_000877
KBio2_003445
KBio2_006013
KBio3_001627
KBioGR_001284
KBioSS_000877
L-3-(P-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(para-(Bis(2-chloroethyl)amino)phenyl)alanine
L-PAM
L-Phenylalanine mustard
L-Sarcolysin
L-Sarcolysine
L-Sarkolysin
LS-15868
LS-865
 
Levofalan
Levofolan
Levopholan
M2011_SIGMA
MELPHALAN (SEE ALSO TRANSGENIC MODEL EVALUATION (MELPHALAN))
MLS001333666
MLS002153368
Melfalan
Melfalano
Melfalano [INN-Spanish]
Melphalan (JP15/USP/INN)
Melphalan [USAN:INN:BAN:JAN]
Melphalanum
Melphalanum [INN-Latin]
Mephalan
MolPort-003-665-535
NCGC00090757-01
NCGC00090757-02
NCGC00090757-03
NCI-C04853
NINDS_000653
NIOSH/AY3360000
NSC 241286
NSC 8806
NSC-8806
NSC241286
NSC8806
P-Di-(2-chloroethyl)amino-L-phenylalanine
P-L-Sarcolysin
P-N-Bis(2-chloroethyl)amino-L-phenylalanine
Phenylalanine mustard
Phenylalanine nitrogen mustard
Prestwick_1006
RCRA waste no. U150
Rcra waste number U150
SK-15673
SMP2_000174
SMR000058720
SPBio_000287
SPECTRUM1500382
Sarcolysine
Sarkolysin
Spectrum2_000074
Spectrum3_000684
Spectrum4_000882
Spectrum5_001601
Spectrum_000397
TL8001065
TRANSGENIC LEP (MELPHALAN) (SEE ALSO MELPHALAN)
TRANSGENIC MODEL EVALUATION (MELPHALAN)
UNII-Q41OR9510P
melphalan
p-Bis(beta-chloroethyl)aminophenylalanine
p-Di-(2-chloroethyl)amino-L-phenylalanine
p-L-Sarcolysin
p-L-sarcolysine
p-N,N-bis(2-chloroethyl)amino-L-phenylalanine
p-N-Bis(2-chloroethyl)amino-L-phenylalanine
p-N-Di(chloroethyl)aminophenylalanine
p-N-di(chloroethyl)aminophenylala nine
phenylalanine nitrogen mu stard
2Immunoglobulins6394
3Antibodies6394

Interventional clinical trials:

idNameStatusNCT IDPhase
1Intravenous rhMBL in Patients With Multiple Myeloma Receiving Chemotherapy Followed by Stem Cell TransplantCompletedNCT00388999Phase 1
2Recombinant Human Mannose-Binding Lectin (MBL) in Treating Young Patients With MBL Deficiency and Fever and NeutropeniaWithdrawnNCT00886496Phase 1
3Bronchial Inflammation in Patients With Severe Immune Deficiency Under Immunoglobulin TreatmentUnknown statusNCT01359384

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Genetic Tests for Mannose-Binding Lectin Protein Deficiency

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Anatomical Context for Mannose-Binding Lectin Protein Deficiency

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Publications for Mannose-Binding Lectin Protein Deficiency

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Variations for Mannose-Binding Lectin Protein Deficiency

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Expression for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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Search GEO for disease gene expression data for Mannose-Binding Lectin Protein Deficiency.

Pathways for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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GO Terms for genes affiliated with Mannose-Binding Lectin Protein Deficiency

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Sources for Mannose-Binding Lectin Protein Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet