IMD47
MCID: IMM140
MIFTS: 22

Immunodeficiency 47 (IMD47)

Categories: Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases

Aliases & Classifications for Immunodeficiency 47

MalaCards integrated aliases for Immunodeficiency 47:

Name: Immunodeficiency 47 56 73 29 6
Immunodeficiency and Hepatopathy with or Without Neurologic Features 56 73
Imd47 56 73
Immunodeficiency, Type 47 39

Characteristics:

OMIM:

56
Miscellaneous:
variable severity

Inheritance:
x-linked recessive


HPO:

31
immunodeficiency 47:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Immunodeficiency 47

UniProtKB/Swiss-Prot : 73 Immunodeficiency 47: A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive.

MalaCards based summary : Immunodeficiency 47, is also known as immunodeficiency and hepatopathy with or without neurologic features. An important gene associated with Immunodeficiency 47 is ATP6AP1 (ATPase H+ Transporting Accessory Protein 1). Affiliated tissues include liver, and related phenotypes are intellectual disability and seizures

OMIM : 56 Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016). (300972)

Related Diseases for Immunodeficiency 47

Symptoms & Phenotypes for Immunodeficiency 47

Human phenotypes related to Immunodeficiency 47:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 seizures 31 occasional (7.5%) HP:0001250
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 sensorineural hearing impairment 31 HP:0000407
6 cirrhosis 31 HP:0001394
7 hepatic steatosis 31 HP:0001397
8 elevated hepatic transaminase 31 HP:0002910
9 decreased antibody level in blood 31 HP:0004313
10 recurrent bacterial infections 31 HP:0002718
11 prolonged neonatal jaundice 31 HP:0006579
12 leukopenia 31 HP:0001882
13 hypermetropia 31 HP:0000540

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Immunology:
recurrent bacterial infections
leukopenia
hypogammaglobulinemia
poor response to vaccination

Neurologic Central Nervous System:
seizures (in some patients)
intellectual disability (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities (in some patients)

Head And Neck Eyes:
hyperopia (1 family)

Abdomen Liver:
hepatomegaly
cirrhosis
fibrosis
steatosis
abnormal mitochondria
more
Skin Nails Hair Skin:
jaundice, neonatal

Laboratory Abnormalities:
abnormal liver enzymes
low serum ceruloplasmin
defective n- and o-glycosylation of serum proteins
low serum copper
high alkaline phosphatase

Head And Neck Ears:
hearing loss, sensorineural (1 family)

Clinical features from OMIM:

300972

Drugs & Therapeutics for Immunodeficiency 47

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 47

Genetic Tests for Immunodeficiency 47

Genetic tests related to Immunodeficiency 47:

# Genetic test Affiliating Genes
1 Immunodeficiency 47 29 ATP6AP1

Anatomical Context for Immunodeficiency 47

MalaCards organs/tissues related to Immunodeficiency 47:

40
Liver

Publications for Immunodeficiency 47

Articles related to Immunodeficiency 47:

# Title Authors PMID Year
1
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. 56 6
27231034 2016

Variations for Immunodeficiency 47

ClinVar genetic disease variations for Immunodeficiency 47:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP6AP1 NM_001183.6(ATP6AP1):c.1284G>A (p.Met428Ile)SNV Pathogenic 236239 rs878853275 X:153664108-153664108 X:154435762-154435762
2 ATP6AP1 NM_001183.6(ATP6AP1):c.431T>C (p.Leu144Pro)SNV Pathogenic 236240 rs878853276 X:153660679-153660679 X:154432333-154432333
3 ATP6AP1 NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys)SNV Pathogenic 236241 rs878853277 X:153663684-153663684 X:154435338-154435338
4 ATP6AP1 NM_001183.6(ATP6AP1):c.938A>G (p.Tyr313Cys)SNV Pathogenic 236242 rs878853278 X:153663499-153663499 X:154435153-154435153
5 ATP6AP1 NM_001183.6(ATP6AP1):c.542T>G (p.Leu181Arg)SNV Pathogenic 437913 rs1557196978 X:153660790-153660790 X:154432444-154432444

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 47:

73
# Symbol AA change Variation ID SNP ID
1 ATP6AP1 p.Leu144Pro VAR_077021 rs878853276
2 ATP6AP1 p.Tyr313Cys VAR_077022 rs878853278
3 ATP6AP1 p.Glu346Lys VAR_077023 rs878853277
4 ATP6AP1 p.Met428Ile VAR_077024 rs878853275

Expression for Immunodeficiency 47

Search GEO for disease gene expression data for Immunodeficiency 47.

Pathways for Immunodeficiency 47

GO Terms for Immunodeficiency 47

Sources for Immunodeficiency 47

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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