MCID: IMM029
MIFTS: 21

Immunodeficiency Due to Defect in Mapbp-Interacting Protein

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune 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 57 75 29 13 6 40
Primary Immunodeficiency Syndrome Due to P14 Deficiency 59
Primary Immunodeficiency Syndrome with Short Stature 59
Id-Mapbpip 75

Characteristics:

Orphanet epidemiological data:

59
primary immunodeficiency syndrome due to p14 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
immunodeficiency due to defect in mapbp-interacting protein:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 610798
Orphanet 59 ORPHA90023
ICD10 via Orphanet 34 D82.8
UMLS via Orphanet 74 C1835829
MedGen 42 C1835829

Summaries for Immunodeficiency Due to Defect in Mapbp-Interacting Protein

UniProtKB/Swiss-Prot : 75 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 neutropenia

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
2 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
3 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
6 recurrent bronchopulmonary infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0006538
7 partial albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0007443
8 hypopigmentation of the skin 32 HP:0001010
9 igm deficiency 32 HP:0002850

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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