IMD47
MCID: IMM140
MIFTS: 59
|
Immunodeficiency 47 (IMD47)
Categories:
Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
|
MalaCards integrated aliases for Immunodeficiency 47:
Characteristics:Inheritance:
Immunodeficiency 47:
X-linked recessive 57
Cog7-Cdg:
Autosomal recessive 58
Alg2-Cdg:
Autosomal recessive 58
Prevelance:
Cog7-Cdg:
<1/1000000 (Worldwide) 58
Alg2-Cdg:
<1/1000000 (Worldwide) 58
Age Of Onset:
Cog7-Cdg:
Infancy,Neonatal 58
Alg2-Cdg:
Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Liver diseases Skin diseases Immune diseases
ICD10:
32
Orphanet: 58
![]() ![]() ![]() ![]() ![]() ![]() ![]() External Ids:
|
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. |
Human phenotypes related to Immunodeficiency 47:58 30 (show top 50) (show all 139)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:300972 607906 608779 (Updated 08-Dec-2022)UMLS symptoms related to Immunodeficiency 47:seizures |
Cochrane evidence based reviews: congenital disorder of glycosylation type ii |
Organs/tissues related to Immunodeficiency 47:
MalaCards :
Liver,
Skin,
Eye,
Kidney,
Heart,
Brain,
Skeletal Muscle
|
Articles related to Immunodeficiency 47:(show top 50) (show all 80)
|
ClinVar genetic disease variations for Immunodeficiency 47:5 (show top 50) (show all 407)
UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 47:73
|
Search
GEO
for disease gene expression data for Immunodeficiency 47.
|
Pathways directly related to Immunodeficiency 47:
Pathways related to Immunodeficiency 47 according to GeneCards Suite gene sharing:
|
Cellular components related to Immunodeficiency 47 according to GeneCards Suite gene sharing:
Biological processes related to Immunodeficiency 47 according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Immunodeficiency 47 according to GeneCards Suite gene sharing:
|
|