MCID: MNN041
MIFTS: 14

Mannose-Binding Lectin Protein Deficiency malady

Categories: Genetic diseases, 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 45 23
Mannose-Binding Protein Deficiency 45 22 23 24 65
Mannose-Binding Lectin Deficiency 22 23
 
Mbl2 Deficiency 22 23
Mbl Deficiency 45 23
Mbp Deficiency 22 23

Classifications:



External Ids:

UMLS65 C3280586

Summaries for Mannose-Binding Lectin Protein Deficiency

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NIH Rare Diseases:45 Mannose-binding lectin protein (mbl) deficiency is a complement component deficiency that alters the function of the body's immune system. this condition usually causes frequent and sometimes severe infections in infants and young children. this deficiency can occur as a result of one or more variations in the mbl2 gene, which codes for the mbl protein. a lack of this protein can cause this condition, but is likely further influenced by other genetic and environmental factors. last updated: 4/9/2012

MalaCards based summary: Mannose-Binding Lectin Protein Deficiency, also known as mannose-binding protein deficiency, is related to chronic infections, due to mbl deficiency and prostate cancer. An important gene associated with Mannose-Binding Lectin Protein Deficiency is MBL2 (Mannose Binding Lectin 2).

Genetics Home Reference:23 Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.

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:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1chronic infections, due to mbl deficiency12.6
2prostate cancer10.3
3abdominal wall defect10.1
4orchitis10.1
5epididymo-orchitis10.1
6lysosomal storage disease10.1
7ichthyosis vulgaris10.1
8leukemia10.1
9hypogonadism10.1
10glomus tumor10.1
11hydrops fetalis10.1
12nasal glial heterotopia10.1

Graphical network of diseases related to Mannose-Binding Lectin Protein Deficiency:



Diseases related to mannose-binding lectin protein deficiency

Symptoms 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 1685148-82-34053, 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 Hydrochloride
Melphalan [USAN:INN:BAN:JAN]
Melphalan hydrochloride
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
2Immunologic Factors18483
3Antibodies4477
4Immunoglobulins4477

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 TreatmentNot yet recruitingNCT01359384

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Genetic Tests for Mannose-Binding Lectin Protein Deficiency

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Genetic tests related to Mannose-Binding Lectin Protein Deficiency:

id Genetic test Affiliating Genes
1 Mannose-Binding Protein Deficiency22 MBL2

Anatomical Context for Mannose-Binding Lectin Protein Deficiency

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Animal Models for Mannose-Binding Lectin Protein Deficiency or affiliated genes

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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
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