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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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Disease Browser
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Growth Disorders (D006130)
Parent Node: Immunologic Deficiency Syndromes (D007153)
..Starting node ..LIG4 Syndrome (C564694)
Child Nodes:
Sister Nodes:
..Activated PI3K-delta Syndrome (C585640)
..Agammaglobulinemia (D000361) 19
..Antibody Deficiency due to Defect in CD19 (C566275)
..Ataxia Telangiectasia (D001260) 6
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..C9 Deficiency (C565165)
..C9 Deficiency with Dermatomyositis (C565166)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..Cd4+ Lymphocyte Deficiency (C566079)
..CD8 Deficiency, Familial (C563824)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Combined Inflammatory and Immunologic Defect (C565684)
..Common Variable Immunodeficiency (D017074)
..COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..Complement Component 3 Deficiency, Autosomal Recessive (C565169)
..Complement Component 4, Partial Deficiency Of (C565168)
..Complement Component 4a Deficiency (C565167)
..Complement component 5 deficiency (C537005)
..Complement Component 6 Deficiency (C567307)
..Complement Component 7 Deficiency (C566443)
..COMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..Complement Component C1s Deficiency (C565170)
..Complement Factor D Deficiency (C565027)
..Davenport Donlan syndrome (C535988)
..Deltaretrovirus Infections (D006800) 4
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dysgammaglobulinemia (D004406) 11
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Endotoxin Hyporesponsiveness (C566417)
..Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..Fanconi like syndrome (C536855)
..Griscelli syndrome type 2 (C537302)
..Hepatic venoocclusive disease with immunodeficiency (C537257)
..HIV Infections (D015658) 12
..Hypoglobulinemia and Absent B Cells (C565765)
..Immune Deficiency Disease (C565469)
..Immune Deficiency, Familial Variable (C564136)
..Immunodeficiency due to Defect in CD3-Epsilon (C566082)
..Immunodeficiency due to Defect in CD3-Gamma (C566083)
..Immunodeficiency due to Defect in CD3-Zeta (C565712)
..Immunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..Immunodeficiency syndrome, variable (C537362) 1
..Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..Immunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
..Inosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..Interleukin 2 Receptor, Alpha, Deficiency of (C565232)
..Invasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..Invasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..IRAK4 Deficiency (C564352)
..Kappa-Chain Deficiency (C564131)
..Kotzot-Richter syndrome (C537025)
..Leukocyte-Adhesion Deficiency Syndrome (D018370) 2
..Lichtenstein syndrome (C535894)
..LIG4 Syndrome (C564694)
..Lymphoblastic Transformation, Intrinsic Defect in (C565431)
..Lymphoid System Deterioration, Progressive (C565430)
..Lymphokine Deficiency (C565428)
..Lymphopenia (D008231) 5
..Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..MASP2 Deficiency (C565360)
..MYD88 Deficiency (C567379)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT (OMIM:609981)
..Natural Killer Cell Deficiency, Familial Isolated (C566492)
..NEMO mutation with immunodeficiency (C538399)
..Neutrophil Immunodeficiency Syndrome (C564275)
..Phagocyte Bactericidal Dysfunction (D010585) 14
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Riddle Syndrome (C567453)
..Roifman syndrome (C535866)
..Roifman-Chitayat Syndrome (C567641)
..Schimke immunoosseous dysplasia (C536629)
..Severe Combined Immunodeficiency (D016511) 22
..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..Splenic Hypoplasia (C563028)
..T cell immunodeficiency primary (C536780)
..T-Cell OKT4 Deficiency (C566080)
..Thumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..Thymic aplasia (C536288)
..Tuftsin Deficiency (C562872)
..WHIM syndrome (C536697)
..Wiskott-Aldrich Syndrome (D014923) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6433

Name:

LIG4 Syndrome

Definition:

Alternative IDs:

OMIM:606593

ParentIDs:

MESH:D006130|MESH:D007153|MESH:D019465

TreeNumbers:

C05.660.207/C564694 |C16.131.621.207/C564694 |C20.673/C564694 |C23.550.393/C564694

Synonyms:

Slim Mappings:

Congenital abnormality|Immune system disease|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C564694
MeSH: C564694
OMIM: 606593;

Genes: LIG4;

Phenotypes

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_002312.3(LIG4):c.2440C>T (p.Arg814Ter)	3981	LIG4	Pathogenic	104894419	RCV000008112;	N	MedGen:C1847827,OMIM:606593,ORPHA:99812	13	108861177	108861177	NM_002312.3:c.2440C>T	NP_002303.2:p.Arg814Ter	NC_000013.10:g.108861177G>A	OMIM Allelic Variant:601837.0002	C1847827 606593 Lig4 syndrome
NM_002312.3(LIG4):c.1738C>T (p.Arg580Ter)	3981	LIG4	Pathogenic	104894418	RCV000008111;	N	MedGen:C1847827,OMIM:606593,ORPHA:99812	13	108861879	108861879	NM_002312.3:c.1738C>T	NP_002303.2:p.Arg580Ter	NC_000013.10:g.108861879G>A	OMIM Allelic Variant:601837.0001	C1847827 606593 Lig4 syndrome
NM_002312.3(LIG4):c.1406G>A (p.Gly469Glu)	3981	LIG4	Pathogenic	104894420	RCV000008113;	N	MedGen:C1847827,OMIM:606593,ORPHA:99812	13	108862211	108862211	NM_002312.3:c.1406G>A	NP_002303.2:p.Gly469Glu	NC_000013.10:g.108862211C>T	OMIM Allelic Variant:601837.0003	C1847827 606593 Lig4 syndrome
NM_002312.3(LIG4):c.1298_1300delAAC (p.Gln433del)	3981	LIG4	Pathogenic	587776663	RCV000008117;	N	MedGen:C1847827,OMIM:606593,ORPHA:99812	13	108862317	108862319	NM_002312.3:c.1298_1300delAAC	NP_002303.2:p.Gln433del		OMIM Allelic Variant:601837.0007	C1847827 606593 Lig4 syndrome
NM_002312.3(LIG4):c.833G>A (p.Arg278His)	3981	LIG4	Pathogenic	104894421	RCV000008114;	N	MedGen:C1847827,OMIM:606593,ORPHA:99812	13	108862784	108862784	NM_002312.3:c.833G>A	NP_002303.2:p.Arg278His	NC_000013.10:g.108862784C>T	OMIM Allelic Variant:601837.0004	C1847827 606593 Lig4 syndrome