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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: Genetic Diseases, Inborn (D030342)
..Starting node ..Complement Factor I Deficiency (C572568)
Child Nodes:
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:

2560

Name:

Complement Factor I Deficiency

Definition:

Alternative IDs:

OMIM:610984

ParentIDs:

MESH:D030342

TreeNumbers:

C16.320/C572568

Synonyms:

C3 Inactivator Deficiency |CFID |Complement Component 3 Inactivator Deficiency

Slim Mappings:

Genetic disease (inborn)

Reference:

MedGen: C572568
MeSH: C572568
OMIM: 610984;

Genes: CFI;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0001369	Arthritis
4	HP:0005421	Decreased serum complement C3
5	HP:0005416	Decreased serum complement factor B
6	HP:0005369	Decreased serum complement factor H
7	HP:0005356	Decreased serum complement factor I
8	HP:0000099	Glomerulonephritis
9	HP:0012330	Pyelonephritis
10	HP:0005376	Recurrent Haemophilus influenzae infections
11	HP:0006946	Recurrent meningitis
12	HP:0005381	Recurrent meningococcal disease
13	HP:0000403	Recurrent otitis media
14	HP:0011108	Recurrent sinusitis
15	HP:0001581	Recurrent skin infections
16	HP:0005366	Recurrent streptococcus pneumoniae infections
17	HP:0000010	Recurrent urinary tract infections
18	HP:0000083	Renal insufficiency
19	HP:0000246	Sinusitis
20	HP:0002633	Vasculitis

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	Disease_hgmd
NM_000204.4(CFI):c.1253A>T (p.His418Leu)	3426	CFI	Pathogenic	121964912	RCV000012901;	N	MedGen:C0001733,OMIM:610984	4	110667554	110667554	NM_000204.4:c.1253A>T	NP_000195.2:p.His418Leu	NC_000004.11:g.110667554T>A	OMIM Allelic Variant:217030.0001	C0001733 610984 Afibrinogenemia
NM_000204.4(CFI):c.728G>A (p.Gly243Asp)	3426	CFI	Pathogenic	121964916	RCV000012907;	N	MedGen:C0001733,OMIM:610984	4	110681723	110681723	NM_000204.4:c.728G>A	NP_000195.2:p.Gly243Asp	NC_000004.11:g.110681723C>T	OMIM Allelic Variant:217030.0007	C0001733 610984 Afibrinogenemia