ID-MAPBPIP
MCID: IMM029
MIFTS: 21

Immunodeficiency Due to Defect in Mapbp-Interacting Protein (ID-MAPBPIP)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

MalaCards integrated aliases for Immunodeficiency Due to Defect in Mapbp-Interacting Protein:

Name: Immunodeficiency Due to Defect in Mapbp-Interacting Protein 56 73 29 13 6 39
Primary Immunodeficiency Syndrome Due to Lamtor2 Deficiency 58
Primary Immunodeficiency Syndrome Due to P14 Deficiency 58
Primary Immunodeficiency Syndrome with Short Stature 58
Id-Mapbpip 73

Characteristics:

Orphanet epidemiological data:

58
primary immunodeficiency syndrome due to lamtor2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
immunodeficiency due to defect in mapbp-interacting protein:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 610798
ICD10 via Orphanet 33 D82.8
UMLS via Orphanet 72 C1835829
Orphanet 58 ORPHA90023
MedGen 41 C1835829

Summaries for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

UniProtKB/Swiss-Prot : 73 Immunodeficiency due to defect in MAPBP-interacting protein: This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency.

MalaCards based summary : Immunodeficiency Due to Defect in Mapbp-Interacting Protein, is also known as primary immunodeficiency syndrome due to lamtor2 deficiency. An important gene associated with Immunodeficiency Due to Defect in Mapbp-Interacting Protein is LAMTOR2 (Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 2). Affiliated tissues include b cells, t cells and neutrophil, and related phenotypes are coarse facial features and short stature

More information from OMIM: 610798

Related Diseases for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

Symptoms & Phenotypes for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

Human phenotypes related to Immunodeficiency Due to Defect in Mapbp-Interacting Protein:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
4 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
5 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
6 partial albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0007443
7 recurrent bronchopulmonary infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0006538
8 hypopigmentation of the skin 31 HP:0001010
9 decreased circulating total igm 31 HP:0002850

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
coarse facial features

Immunology:
decreased serum igm
increased total number of cd19+ b cells
increased percentage of naive igd+ igm+ cd27- b cells
decreased percentage of igd+ igm+ cd27+ memory b cells
decreased percentage of igd- igm- cd27+ class-switched memory b cells
more
Respiratory:
recurrent bronchopulmonary infections due to streptococcus pneumoniae

Growth Height:
short stature

Skin Nails Hair Skin:
hypopigmented skin

Hematology:
low peripheral neutrophil counts (absolute neutrophil count less than 500/microliter)
neutrophil maturation in bone marrow intact

Clinical features from OMIM:

610798

Drugs & Therapeutics for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

Search Clinical Trials , NIH Clinical Center for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

Genetic Tests for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

Genetic tests related to Immunodeficiency Due to Defect in Mapbp-Interacting Protein:

# Genetic test Affiliating Genes
1 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 29 LAMTOR2

Anatomical Context for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

MalaCards organs/tissues related to Immunodeficiency Due to Defect in Mapbp-Interacting Protein:

40
B Cells, T Cells, Neutrophil, Bone, Skin, Bone Marrow

Publications for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

Articles related to Immunodeficiency Due to Defect in Mapbp-Interacting Protein:

# Title Authors PMID Year
1
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. 56 6
17195838 2007

Variations for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

ClinVar genetic disease variations for Immunodeficiency Due to Defect in Mapbp-Interacting Protein:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMTOR2 LAMTOR2, IVS4DS, C-A, +23, 3-PRIME UTRSNV Pathogenic 1239

Expression for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

Search GEO for disease gene expression data for Immunodeficiency Due to Defect in Mapbp-Interacting Protein.

Pathways for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

GO Terms for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

Sources for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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