Immunodeficiency 47 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Immune diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 300972

MedGen ⁴² C4310819 CN236829

MeSH ⁴⁴ D007153

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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)

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Related Diseases for Immunodeficiency 47

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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

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Drugs & Therapeutics for Immunodeficiency 47

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 47

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Genetic Tests for Immunodeficiency 47

Genetic tests related to Immunodeficiency 47:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 47 ²⁹	ATP6AP1

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Anatomical Context for Immunodeficiency 47

MalaCards organs/tissues related to Immunodeficiency 47:

⁴¹

Liver

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Publications for Immunodeficiency 47

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Genes for Immunodeficiency 47

Genes related to Immunodeficiency 47 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP6AP1	ATPase H+ Transporting Accessory Protein 1	Protein Coding	1327.18	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)

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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

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Expression for Immunodeficiency 47

Search GEO for disease gene expression data for Immunodeficiency 47.

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Pathways for Immunodeficiency 47

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GO Terms for Immunodeficiency 47

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Sources for Immunodeficiency 47

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

MCID: IMM140 MIFTS: 20	Immunodeficiency 47 Categories: Genetic diseases, Neuronal diseases, Immune diseases, Liver diseases
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