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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Kidney Diseases (D007674)
..Starting node ..Complement Factor H Deficiency (C562875)
Child Nodes:
Sister Nodes:
..46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..AIDS-Associated Nephropathy (D016263)
..Alsing syndrome (C536588)
..Anuria (D001002)
..Arnold Stickler Bourne syndrome (C537431)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bifid Nose With Or Without Anorectal And Renal Anomalies (C567672)
..Blue diaper syndrome (C536239)
..Complement Factor H Deficiency (C562875)
..Diabetes Insipidus (D003919) 10
..Diabetic Nephropathies (D003928) 4
..Dimauro disease (C536176)
..Fanconi Syndrome (D005198) 3
..Hepatorenal Syndrome (D006530)
..Hereditary renal agenesis (C536482)
..Herrmann syndrome (C538113)
..Hydranencephaly with Renal Aplasia-Dysplasia (C565507)
..Hydronephrosis (D006869) 5
..Hyperoxaluria (D006959) 4
..Hypertension, Renal (D006977) 3
..HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 (OMIM:162000)
..HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 (OMIM:614227)
..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..Infundibulopelvic dysgenesis (C535528)
..Jejunal atresia with renal adysplasia (C537567)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 9 (C567364)
..Juvenile gout (C537696)
..Kidney Cortex Necrosis (D007673)
..Kidney Diseases, Cystic (D052177) 52
..Kidney Neoplasms (D007680) 23
..Kidney Papillary Necrosis (D007681)
..Lachiewicz Sibley syndrome (C538131)
..Lipoprotein Glomerulopathy (C567089)
..Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
..Nephritis (D009393) 51
..Nephrocalcinosis (D009397) 6
..Nephrolithiasis (D053040) 11
..NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Nephrosclerosis (D009400)
..Nephrosis (D009401) 22
..Perinephritis (D010501)
..Radio renal syndrome (C536267)
..Ren-Related Kidney Disease (C580420)
..Renal Artery Obstruction (D012078)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal Hypodysplasia, Nonsyndromic, 1 (C563661)
..Renal Insufficiency (D051437) 15
..Renal Nutcracker Syndrome (D059228)
..Renal Osteodystrophy (D012080)
..RENAL TUBULAR DYSGENESIS (OMIM:267430)
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA (C564014)
..Selig Benacerraf Greene syndrome (C535840)
..Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..Siegler Brewer Carey syndrome (C537335)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Thrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..Thyrocerebral-retinal syndrome (C536908)
..Tuberculosis, Renal (D014398)
..Uremia (D014511) 4
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2559

Name:

Complement Factor H Deficiency

Definition:

Alternative IDs:

OMIM:609814

ParentIDs:

MESH:D007674

TreeNumbers:

C12.777.419/C562875 |C13.351.968.419/C562875

Synonyms:

CFHD |CFH Deficiency |Factor H Deficiency

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C562875
MeSH: C562875
OMIM: 609814;

Genes: CFH;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003621	Juvenile onset
4	HP:0012622	Chronic kidney disease
5	HP:0005369	Decreased serum complement factor H
6	HP:0005389	Depletion of components of the alternative complement pathway
7	HP:0004746	Glomerular subendothelial electron-dense deposits
8	HP:0000790	Hematuria
9	HP:0003812	Phenotypic variability
10	HP:0002718	Recurrent bacterial infections
11	HP:0004722	Thickened glomerular basement membrane

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_000186.3(CFH):c.380G>T (p.Arg127Leu)	3075	CFH	Pathogenic	121913058	RCV000018021;	N	MedGen:C0398777,OMIM:609814,ORPHA:200421,SNOMED CT:234622003	1	196645148	196645148	NM_000186.3:c.380G>T	NP_000177.2:p.Arg127Leu	NC_000001.10:g.196645148G>T	OMIM Allelic Variant:134370.0013	C0398777 609814 Factor H deficiency
NM_000186.3(CFH):c.565G>T (p.Glu189Ter)	3075	CFH	Pathogenic	121913054	RCV000018013;	N	MedGen:C0398777,OMIM:609814,ORPHA:200421,SNOMED CT:234622003	1	196646743	196646743	NM_000186.3:c.565G>T	NP_000177.2:p.Glu189Ter	NC_000001.10:g.196646743G>T	OMIM Allelic Variant:134370.0006	C0398777 609814 Factor H deficiency
NM_000186.3(CFH):c.671_673delAGA (p.Lys224del)	3075	CFH	Pathogenic	796052138	RCV000018022;	N	MedGen:C0398777,OMIM:609814,ORPHA:200421,SNOMED CT:234622003	1	196648804	196648806	NM_000186.3:c.671_673delAGA	NP_000177.2:p.Lys224del	NC_000001.10:g.196648804_196648806delAGA	OMIM Allelic Variant:134370.0014	C0398777 609814 Factor H deficiency
NM_000186.3(CFH):c.1291T>A (p.Cys431Ser)	3075	CFH	Pathogenic	121913056	RCV000018018;	N	MedGen:C0398777,OMIM:609814,ORPHA:200421,SNOMED CT:234622003	1	196659324	196659324	NM_000186.3:c.1291T>A	NP_000177.2:p.Cys431Ser	NC_000001.10:g.196659324T>A	OMIM Allelic Variant:134370.0010	C0398777 609814 Factor H deficiency
NM_000186.3(CFH):c.1606T>C (p.Cys536Arg)	3075	CFH	Pathogenic	121913052	RCV000018009;	N	MedGen:C0398777,OMIM:609814,ORPHA:200421,SNOMED CT:234622003	1	196684809	196684809	NM_000186.3:c.1606T>C	NP_000177.2:p.Cys536Arg	NC_000001.10:g.196684809T>C	OMIM Allelic Variant:134370.0002	C0398777 609814 Factor H deficiency
NM_000186.3(CFH):c.2876G>A (p.Cys959Tyr)	3075	CFH	Pathogenic	121913053	RCV000018010;	N	MedGen:C0398777,OMIM:609814,ORPHA:200421,SNOMED CT:234622003	1	196709842	196709842	NM_000186.3:c.2876G>A	NP_000177.2:p.Cys959Tyr	NC_000001.10:g.196709842G>A	OMIM Allelic Variant:134370.0003	C0398777 609814 Factor H deficiency
NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys)	3075	CFH	Pathogenic;risk factor	121913059	RCV000018026; RCV000018025; RCV000022540;	N	MedGen:C0398777,OMIM:609814,ORPHA:200421,SNOMED CT:234622003; MedGen:C1853147,OMIM:610698; MedGen:C2749604,OMIM:235400	1	196716375	196716375	NM_000186.3:c.3628C>T	NP_000177.2:p.Arg1210Cys	NC_000001.10:g.196716375C>T	OMIM Allelic Variant:134370.0017	C1853147 610698 Age-related macular degeneration 4; C2749604 235400 Atypical hemolytic-uremic syndrome 1; C0398777 609814 Factor H deficiency