MCID: IMM140
MIFTS: 20

Immunodeficiency 47

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

Aliases & Classifications for Immunodeficiency 47

MalaCards integrated aliases for Immunodeficiency 47:

Name: Immunodeficiency 47 57 75 29 6
Immunodeficiency and Hepatopathy with or Without Neurologic Features 57 75
Imd47 57 75
Immunodeficiency, Type 47 40

Characteristics:

OMIM:

57
Miscellaneous:
variable severity

Inheritance:
x-linked recessive


HPO:

32
immunodeficiency 47:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Immunodeficiency 47

UniProtKB/Swiss-Prot : 75 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 : 57 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

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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
steatosis
abnormal mitochondria
hepatopathy
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

Human phenotypes related to Immunodeficiency 47:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 splenomegaly 32 HP:0001744
4 hepatomegaly 32 HP:0002240
5 sensorineural hearing impairment 32 HP:0000407
6 hepatic steatosis 32 HP:0001397
7 elevated hepatic transaminases 32 HP:0002910
8 cirrhosis 32 HP:0001394
9 decreased antibody level in blood 32 HP:0004313
10 prolonged neonatal jaundice 32 HP:0006579
11 recurrent bacterial infections 32 HP:0002718
12 leukopenia 32 HP:0001882
13 hypermetropia 32 HP:0000540

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:

41
Liver

Publications for Immunodeficiency 47

Variations for Immunodeficiency 47

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

75
# 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

ClinVar genetic disease variations for Immunodeficiency 47:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP6AP1 NM_001183.5(ATP6AP1): c.542T> G (p.Leu181Arg) single nucleotide variant Pathogenic GRCh37 Chromosome X, 153660790: 153660790
2 ATP6AP1 NM_001183.5(ATP6AP1): c.542T> G (p.Leu181Arg) single nucleotide variant Pathogenic GRCh38 Chromosome X, 154432444: 154432444

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 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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