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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dysgammaglobulinemia (D004406)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..Hyper-IgM Immunodeficiency Syndrome (D053306)
Child Nodes:
........Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) 1
........Immunodeficiency With Hyper-Igm, Type 4 (C564277)
Sister Nodes:
..ACTH Deficiency, Isolated (C562707)
..Adrenal Hyperplasia, Congenital (D000312) 12
..Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..Alagille Syndrome (D016738)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Alpha-2-Deficient Collagen Disease (C565963)
..Anemia, Hemolytic, Congenital (D000745) 68
..Anemia, Hypoplastic, Congenital (D029502) 27
..Angioedemas, Hereditary (D054179) 2
..Ataxia Telangiectasia (D001260) 6
..Atrial Standstill (C563984)
..Autoimmune Lymphoproliferative Syndrome (D056735) 5
..Blood Coagulation Disorders, Inherited (D025861) 70
..Brugada Syndrome (D053840) 9
..CADASIL (D046589) 1
..Camurati-Engelmann Syndrome (D003966) 4
..Cardiomyopathy, Hypertrophic, Familial (D024741) 15
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..CHARGE Syndrome (D058747)
..Cherubism (D002636) 2
..Chromosome Disorders (D025063) 160
..Cirrhosis, Familial (C566123)
..Complement Factor I Deficiency (C572568)
..Corticosteroid-Binding Globulin Deficiency (C565152)
..Costello Syndrome (D056685)
..Cryoglobulinemia, Familial Mixed (C565141)
..Cystic Fibrosis (D003550) 4
..Donohue Syndrome (D056731) 1
..Dwarfism (D004392) 155
..Epistaxis, Hereditary (C562751)
..Eye Diseases, Hereditary (D015785) 373
..Frasier Syndrome (D052159)
..Genetic Diseases, X-Linked (D040181) 412
..Genetic Diseases, Y-Linked (D050174) 5
..Hajdu-Cheney Syndrome (D031845) 1
..Hemoglobinopathies (D006453) 23
..Hepatic Fibrosis, Congenital (C562378)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Histiocytosis, Familial Lipochrome (C562738)
..Hyper-IgM Immunodeficiency Syndrome (D053306) 3
..Hyperthyroxinemia, Familial Dysalbuminemic (D050010) 1
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Kallmann Syndrome (D017436) 9
..Kartagener Syndrome (D007619) 6
..Lennox Gastaut Syndrome (D065768) 1
..Loeys-Dietz Syndrome (D055947) 5
..Marfan Syndrome (D008382) 9
..Metabolism, Inborn Errors (D008661) 886
..Muscular Dystrophies (D009136) 117
..Myasthenic Syndromes, Congenital (D020294) 15
..Nail-Patella Syndrome (D009261) 1
..Neoplastic Syndromes, Hereditary (D009386) 111
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteogenesis Imperfecta (D010013) 27
..Pain Insensitivity, Congenital (D000699) 2
..Parotidomegaly, Hereditary Bilateral (C566821)
..Pelger-Huet Anomaly (D010381)
..Platelet Glycoprotein IV Deficiency (C564245)
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Prolactin Deficiency, Isolated (C562708)
..Pulmonary Alveolar Microlithiasis (C562405)
..Pycnodysostosis (D058631)
..Rh Deficiency Syndrome (C562717)
..Skin Diseases, Genetic (D012873) 462
..Weill-Marchesani Syndrome (D056846)
..Werner Syndrome (D014898) 1
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5386

Name:

Hyper-IgM Immunodeficiency Syndrome

Definition:

A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.

Alternative IDs:

OMIM:605258|OMIM:606843|OMIM:608106

ParentIDs:

MESH:D004406|MESH:D030342

TreeNumbers:

C15.378.147.333.249 |C16.320.413 |C20.673.430.249

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)|Immune system disease

Reference:

MedGen: D053306
MeSH: D053306
OMIM: 605258;

Genes: AICDA; CD40; UNG;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002720	Decreased circulating IgA level
3	HP:0004315	Decreased circulating IgG level
4	HP:0002721	Immunodeficiency
5	HP:0002959	Impaired Ig class switch recombination
6	HP:0002716	Lymphadenopathy
7	HP:0002718	Recurrent bacterial infections
8	HP:0004798	Recurrent infection of the gastrointestinal tract
9	HP:0200117	Recurrent upper and lower respiratory tract infections

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_020661.2(AICDA):c.452T>C (p.Phe151Ser)	57379	AICDA	Pathogenic	104894327	RCV000005435;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8757494	8757494	NM_020661.2:c.452T>C	NP_065712.1:p.Phe151Ser	NC_000012.11:g.8757494A>G	OMIM Allelic Variant:605257.0007	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.441C>A (p.Cys147Ter)	57379	AICDA	Pathogenic	104894323	RCV000005434;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8757505	8757505	NM_020661.2:c.441C>A	NP_065712.1:p.Cys147Ter	NC_000012.11:g.8757505G>T	OMIM Allelic Variant:605257.0006	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.415A>G (p.Met139Val)	57379	AICDA	Pathogenic	104894322	RCV000005433;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8757823	8757823	NM_020661.2:c.415A>G	NP_065712.1:p.Met139Val	NC_000012.11:g.8757823T>C	OMIM Allelic Variant:605257.0005	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.374G>A (p.Gly125Glu)	57379	AICDA	Likely pathogenic	193922704	RCV000029304;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8757864	8757864	NM_020661.2:c.374G>A	NP_065712.1:p.Gly125Glu	NC_000012.11:g.8757864C>T	-	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.317T>C (p.Leu106Pro)	57379	AICDA	Pathogenic	104894321	RCV000005432;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8757921	8757921	NM_020661.2:c.317T>C	NP_065712.1:p.Leu106Pro	NC_000012.11:g.8757921A>G	OMIM Allelic Variant:605257.0004	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.251G>A (p.Trp84Ter)	57379	AICDA	Likely pathogenic	193922703	RCV000029303;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8757987	8757987	NM_020661.2:c.251G>A	NP_065712.1:p.Trp84Ter	NC_000012.11:g.8757987C>T	-	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.238T>C (p.Trp80Arg)	57379	AICDA	Pathogenic	104894320	RCV000005431;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8758000	8758000	NM_020661.2:c.238T>C	NP_065712.1:p.Trp80Arg	NC_000012.11:g.8758000A>G	OMIM Allelic Variant:605257.0003	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.203G>A (p.Trp68Ter)	57379	AICDA	Pathogenic	104894325	RCV000005430;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8758035	8758035	NM_020661.2:c.203G>A	NP_065712.1:p.Trp68Ter	NC_000012.11:g.8758035C>T	OMIM Allelic Variant:605257.0002	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.176_184delTGCTCTTCC (p.Leu59_Leu62delinsPhe)	57379	AICDA	Pathogenic	387906329	RCV000005437;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8758054	8758062	NM_020661.2:c.176_184delTGCTCTTCC	NP_065712.1:p.Leu59_Leu62delinsPhe	NC_000012.11:g.8758054_8758062delGGAAGAGCA	OMIM Allelic Variant:605257.0009	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.70C>T (p.Arg24Trp)	57379	AICDA	Pathogenic	104894324	RCV000005429;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8759547	8759547	NM_020661.2:c.70C>T	NP_065712.1:p.Arg24Trp	NC_000012.11:g.8759547G>A	OMIM Allelic Variant:605257.0001	C1720956 605258 Immunodeficiency with hyper IgM type 2
NM_020661.2(AICDA):c.21_39del19 (p.Arg8Asnfs)	57379	AICDA	Pathogenic	387906328	RCV000005436;	N	MedGen:C1720956,OMIM:605258,ORPHA:101089	12	8759578	8759596	NM_020661.2:c.21_39del19	NP_065712.1:p.Arg8Asnfs	NC_000012.11:g.8759578_8759596del19	OMIM Allelic Variant:605257.0008	C1720956 605258 Immunodeficiency with hyper IgM type 2