GlyCosmos Portal

Submissions

immunodeficiency 47

Summary

Synonym

CDG IIs
CDG2S
CDGIIs
IMD47
congenital disorder of glycosylation type IIs
immunodeficiency and hepatopathy with or without neurologic features

Definition

A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.

Super Class

X-linked recessive disease congenital disorder of glycosylation type II primary immunodeficiency disease

External Links

Disease Ontology

DOID:0112002

Mondo Disease Ontology

MONDO:0010504

UMLS

C4310819

OMIM

300972

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
537	ATP6AP1	ATPase H+ transporting accessory protein 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
54411	Atp6ap1	ATPase, H+ transporting, lysosomal accessory protein 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
83615	Atp6ap1	ATPase H+ transporting accessory protein 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
35944	VhaAC45	Vacuolar H[+] ATPase AC45 accessory subunit	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
177103	vha-19	V-type proton ATPase subunit S1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 43 in total

1

2

3

4

5

Next ›

Last »
HPO ID	HPO Term
HP:0000348	High forehead
HP:0000407	Sensorineural hearing impairment
HP:0000540	Hypermetropia
HP:0000601	Hypotelorism
HP:0000973	Cutis laxa
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001263	Global developmental delay
HP:0001382	Joint hypermobility