Immunodeficiency 47 (IMD47)

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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.

Congenital disorder of glycosylation 1i: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

Congenital disorder of glycosylation 2e: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

MalaCards based summary: Immunodeficiency 47, also known as congenital disorder of glycosylation type ii, is related to congenital disorder of glycosylation, type iil and congenital disorder of glycosylation, type iij, and has symptoms including seizures An important gene associated with Immunodeficiency 47 is ATP6AP1 (ATPase H+ Transporting Accessory Protein 1), and among its related pathways/superpathways are Metabolism of proteins and Disease. Affiliated tissues include liver, skin and eye, and related phenotypes are failure to thrive and hypotonia

OMIM® ⁵⁷ Immunodeficiency 47: Immunodeficiency-47 (IMD47) is an X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Some patients also have neurologic abnormalities (summary by Jansen et al., 2016).

Congenital disorder of glycosylation, type ii: Congenital disorder of glycosylation type Ii (CDG1I) is a rare autosomal recessive disorder characterized by neurologic involvement, including a convulsive syndrome of unknown origin, axial hypotonia, and mental and motor regression (summary by Papazoglu et al., 2021). For a general discussion of CDGs, see CDG1A (212065).

Congenital disorder of glycosylation, type iie: CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. For a general discussion of CDGs, see CDG1A (212065).

Disease Ontology ¹¹ Immunodeficiency 47: 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 ATP6AP1 on chromosome Xq28.

Congenital disorder of glycosylation type ii: A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.

Congenital disorder of glycosylation type iie: A congenital disorder of glycosylation type II that has material basis in a mutation of COG7 on chromosome 16p12.2.

Congenital disorder of glycosylation ii: A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has material basis in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.

Orphanet ⁵⁸ Alg2-cdg: A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.

Cog7-cdg: COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Immunodeficiency 47