Immunodeficiency 47 (IMD47)

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Disease Ontology 12 DOID:0050571 DOID:0070257 DOID:0080561 DOID:0112002 more OMIM® 57 300972 607906 608779 OMIM Phenotypic Series 57 PS212065 PS212066 PS300755 KEGG 36 H00119 MeSH 44 C535754 D007153 D018981 SNOMED-CT 67 717773005 ICD10 via Orphanet 33 E77.8

UMLS via Orphanet 71 C1842836 C2931010 Orphanet 58 ORPHA79326 ORPHA79333 MedGen 41 C1837437 C1842836 C2931010 C4310819 CN236829 more SNOMED-CT via HPO 68 103276001 119250001 128306009 128613002 13213009 135810007 14582003 15188001 16294009 16331000 166603001 166643006 18165001 193570009 197321007 19943007 199612005 204043002 22033007 224958001 228156007 233873004 235595009 237630007 237836003 246545002 246635007 246799009 246802000 247053007 247578003 248200007 249310005 249321001 249872000 253255002 258211005 271327008 271607001 278849000 28055006 285503005 29966009 302866003 313307000 32003007 32958008 343087000 362970003 36440009 38101003 386806002 387712008 397540003 397732007 398064005 398151007 398152000 398206004 398302004 405946002 409623005 418143002 42343007 428875002 43064006 432788009 442191002 45227007 52522001 563001 60700002 64779008 698065002 74035001 75183008 77981007 78164000 7973008 80515008 82231009 84114007 84757009 84828003 86854008 91138005 91175000 92828000 93390002 95427009 95515009 95646004 95828007 more EFO 17 EFO_0005546 UMLS 70 C1842836 C2931008 C2931010 C4310819 more

UniProtKB/Swiss-Prot : ⁷² 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.
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, also known as congenital disorder of glycosylation type ii, is related to congenital disorder of glycosylation, type iig and congenital disorder of glycosylation, type iij, and has symptoms including seizures An important gene associated with Immunodeficiency 47 is ALG2 (ALG2 Alpha-1,3/1,6-Mannosyltransferase), and among its related pathways/superpathways are N-Glycan biosynthesis and Metabolism. Affiliated tissues include eye, liver and heart, and related phenotypes are nystagmus and cataract

Disease Ontology : ¹² 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.

OMIM® : ⁵⁷ 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). (300972) (Updated 05-Apr-2021)

KEGG : ³⁶ Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing of N-glycans on the glycosylated proteins either late in the endoplasmic reticulum or the Golgi compartments. Multiple subtypes have been identified although the numbers and forms of affected individuals with CDG-I are still much more. In contrast to type I, the type II patients show a more severe psychomotor retardation, no peripheral neuropathy and a cerebellar hypoplasia. According to the serum transferrin glycoform, a portion of CDG-II can be diagnosed. Distinct from CDG-I, the serum trisialo- and asialotransferrin are increased in CDG-II.

Clinical features from OMIM®:

300972 607906 608779 (Updated 05-Apr-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00240-S-1	9.4	COG7
2	Decreased viability	GR00249-S	9.4	ALG2 B4GALT1 SLC35C1
3	Decreased viability	GR00381-A-1	9.4	B4GALT1
4	Decreased viability	GR00386-A-1	9.4	ALG1 ALG6 COG7 MPI TMEM165
5	Decreased viability	GR00402-S-2	9.4	ATP6V0A2 TMEM165
6	Decreased shRNA abundance	GR00297-A	9.26	ALG1 DOLK MPI PMM2

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 47

Search GEO for disease gene expression data for Immunodeficiency 47.