ID-MAPBPIP
MCID: IMM029
MIFTS: 20

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 58 76 30 13 6 41
Primary Immunodeficiency Syndrome Due to P14 Deficiency 60
Primary Immunodeficiency Syndrome with Short Stature 60
Id-Mapbpip 76

Characteristics:

Orphanet epidemiological data:

60
primary immunodeficiency syndrome due to p14 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
immunodeficiency due to defect in mapbp-interacting protein:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 610798
ICD10 via Orphanet 35 D82.8
UMLS via Orphanet 75 C1835829
Orphanet 60 ORPHA90023
MedGen 43 C1835829

Summaries for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

UniProtKB/Swiss-Prot : 76 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 p14 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

Description 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:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
4 hypopigmentation of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0005599
5 neutropenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001875
6 partial albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0007443
7 recurrent bronchopulmonary infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0006538
8 hypopigmentation of the skin 33 HP:0001010
9 decreased circulating total igm 33 HP:0002850

Symptoms via clinical synopsis from OMIM:

58
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 30 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:

42
B Cells, T Cells, Neutrophil, Skin, Bone, Bone Marrow

Publications for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

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 Variation Type Significance SNP ID Assembly Location
1 LAMTOR2 LAMTOR2, IVS4DS, C-A, +23, 3-PRIME UTR single nucleotide variant Pathogenic

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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