Hemolytic Uremic Syndrome, Atypical 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AHUS1 MCID: HML033 MIFTS: 68	Hemolytic Uremic Syndrome, Atypical 1 (AHUS1) Categories: Blood diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 1

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 1:

Name: Hemolytic Uremic Syndrome, Atypical 1 ⁵⁷

Atypical Hemolytic Uremic Syndrome ²⁰ ⁵⁸ ³⁶ ²⁹ ⁶ ⁷⁰

Ahus ²⁰ ⁴³ ⁵⁸ ⁷²

Hemolytic Uremic Syndrome, Atypical, Susceptibility to ⁵⁷ ²⁹ ⁶

Atypical Hemolytic-Uremic Syndrome ¹² ⁴³ ¹⁵

Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 ⁵⁷ ¹³

Atypical Hemolytic-Uremic Syndrome 1 ²⁹ ⁶

Hemolytic-Uremic Syndrome ⁷² ⁷⁰

Atypical Hus ²⁰ ⁵⁸

Ahus1 ⁵⁷ ⁷²

Hemolytic Uremic Syndrome Associated with Shiga Toxin-Producing Escherichia Coli ⁵⁸

Atypical Hemolytic Uremic Syndrome with Anti-Factor H Antibodies ⁵⁸

Atypical Hemolytic Uremic Syndrome with H Factor Anomaly ⁷²

Ahus with Neutralizing Autoantibodies Against Factor H ⁵⁸

Shiga Toxin-Associated Hemolytic Uremic Syndrome ⁵⁸

Hemolytic-Uremic Syndrome, Atypical, Type 1 ³⁹

Atypical Hus with Anti-Factor H Antibodies ⁵⁸

Hemolytic-Uremic Syndrome Without Diarrhea ⁷²

Hemolytic Uremic Syndrome with Diarrhea ⁵⁸

Hemolytic Uremic Syndrome Atypical 1 ⁷²

Hemolytic Uremic Syndrome, Atypical ⁵⁷

Non-Shiga-Like Toxin-Associated Hus ⁴³

Hemolytic-Uremic Syndrome, Atypical ³⁹

Ahus with Anti-Factor H Antibodies ⁵⁸

Hemolytic Uremic Syndrome, Typical ⁷⁰

Typical Hemolytic Uremic Syndrome ⁵⁸

Shiga-Like Toxin-Associated Hus ⁵⁸

Ahus, Susceptibility to, 1 ⁵⁷

Nonenteropathic Hus ⁴³

Hus, Atypical ²⁰

Non-Stx-Hus ⁴³

Typical Hus ⁵⁸

Ehec-Hus ⁵⁸

Stec-Hus ⁵⁸

Stx-Hus ⁵⁸

Ahus 1 ⁵⁷

D+ Hus ⁵⁸

D Hus ⁷²

Characteristics:

Orphanet epidemiological data:

⁵⁸

atypical hemolytic uremic syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

shiga toxin-associated hemolytic uremic syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: All ages;

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus)
d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis
diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses
d-hus is usually familial
phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, )
may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents

HPO:

³¹

hemolytic uremic syndrome, atypical 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

Other hereditary haemolytic anaemias

Other specified hereditary haemolytic anaemias

Orphanet: ⁵⁸

Rare renal diseases

Rare haematological diseases

External Ids:

Disease Ontology ¹² DOID:0080301

OMIM® ⁵⁷ 235400

OMIM Phenotypic Series ⁵⁷ PS235400

KEGG ³⁶ H01434

MeSH ⁴⁴ D006463

MESH via Orphanet ⁴⁵ C538266

ICD10 via Orphanet ³³ D58.8

UMLS via Orphanet ⁷¹ C2931788

Orphanet ⁵⁸ ORPHA2134 ORPHA90038 ORPHA93581

MedGen ⁴¹ C1856143 C2749604

SNOMED-CT via HPO ⁶⁸ 111407006 111583006 12393003 more

UMLS ⁷⁰ C0019061 C1856143 C2931788

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Summaries for Hemolytic Uremic Syndrome, Atypical 1

MedlinePlus Genetics : ⁴³ Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break apart as they squeeze past clots within small blood vessels. Anemia results if these cells are destroyed faster than the body can replace them. Anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate.Thrombocytopenia is a reduced level of circulating platelets, which are cells that normally assist with blood clotting. In people with atypical hemolytic-uremic syndrome, fewer platelets are available in the bloodstream because a large number of platelets are used to make abnormal clots. Thrombocytopenia can cause easy bruising and abnormal bleeding.As a result of clot formation in small blood vessels, people with atypical hemolytic-uremic syndrome experience kidney damage and acute kidney failure that lead to end-stage renal disease (ESRD) in about half of all cases. These life-threatening complications prevent the kidneys from filtering fluids and waste products from the body effectively.Atypical hemolytic-uremic syndrome should be distinguished from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms. Unlike the atypical form, the typical form is caused by infection with certain strains of Escherichia coli bacteria that produce toxic substances called Shiga-like toxins. The typical form is characterized by severe diarrhea and most often affects children younger than 10. The typical form is less likely than the atypical form to involve recurrent attacks of kidney damage that lead to ESRD.

MalaCards based summary : Hemolytic Uremic Syndrome, Atypical 1, also known as atypical hemolytic uremic syndrome, is related to genetic atypical hemolytic-uremic syndrome and complement factor h deficiency. An important gene associated with Hemolytic Uremic Syndrome, Atypical 1 is CFH (Complement Factor H), and among its related pathways/superpathways are Complement and coagulation cascades and Creation of C4 and C2 activators. The drugs Epoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and liver, and related phenotypes are proteinuria and thrombocytopenia

Disease Ontology : ¹² A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.

GARD : ²⁰ Atypical hemolytic uremic syndrome (aHUS) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It can occur at any age and is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your body's immune system ). Environmental factors include certain medications (such as anticancer drugs), chronic diseases (e.g., systemic sclerosis and malignant hypertension ), viral or bacterial infections, cancers, organ transplantation, and pregnancy. In about 60% of aHUS, a gene mutation may be identified. The genes associated with genetic aHUS include C3, CD46 ( MCP ), CFB, CFH, CFHR1, CFHR3, CFHR4, CFI, DGKE, and THBD. Mutations in these genes increase the likelihood (predisposition) to developing aHUS, rather than directly causing the disease. Most cases are sporadic. In familiar cases, p redisposition to aHUS is inherited in an autosomal dominant or an autosomal recessive pattern of inheritance. Atypical hemolytic uremic syndrome differs from a more common condition called typical hemolytic uremic syndrome. The two disorders have different causes and different signs and symptoms.

OMIM® : ⁵⁷ Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. (235400) (Updated 05-Apr-2021)

KEGG : ³⁶ The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated (D+HUS) or non-diarrhoeal/atypical (aHUS). Approximately half of the patients with aHUS have mutations in genes that regulate the complement system. Several other conditions and factors, such as infection, drugs, pregnancy, and malignancy, have been reported to cause aHUS.

UniProtKB/Swiss-Prot : ⁷² Hemolytic uremic syndrome atypical 1: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.

Wikipedia : ⁷³ Atypical hemolytic uremic syndrome (aHUS) is an extremely rare, life-threatening, progressive disease... more...

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Related Diseases for Hemolytic Uremic Syndrome, Atypical 1

Diseases in the Hemolytic Uremic Syndrome, Atypical 1 family:

Hemolytic Uremic Syndrome, Atypical 2	Hemolytic Uremic Syndrome, Atypical 3
Hemolytic Uremic Syndrome, Atypical 4	Hemolytic Uremic Syndrome, Atypical 5
Hemolytic Uremic Syndrome, Atypical 6

Diseases related to Hemolytic Uremic Syndrome, Atypical 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 519)

#	Related Disease	Score	Top Affiliating Genes
1	genetic atypical hemolytic-uremic syndrome	33.1	THBD DGKE CFI CFHR5 CFHR4 CFHR3
2	complement factor h deficiency	32.8	CFI CFHR1 CFH CD46
3	hemolytic-uremic syndrome	32.8	THBD MMACHC DGKE CFI CFHR5 CFHR4
4	atypical hemolytic uremic syndrome with complement gene abnormality	32.7	THBD CFI CFH CFB CD46 C3
5	thrombotic microangiopathy	32.5	THBD ADAMTS13
6	hemolytic anemia	32.2	THBD DGKE CFI CFHR5 CFHR3 CFHR1
7	purpura	32.1	THBD C3 ADAMTS13
8	thrombocytopenia	32.1	THBD DGKE CFI CFHR5 CFHR3 CFHR1
9	thrombotic thrombocytopenic purpura	32.0	THBD CFI CFH CD46 C3 ADAMTS13
10	nephrotic syndrome, type 7	32.0	DGKE CFH
11	end stage renal disease	32.0	THBD COL4A5 CFHR5 CFHR3 CFHR1 CFH
12	glomerulonephritis	31.7	COL4A5 CFP CFI CFHR5 CFH CD46
13	c3 glomerulopathy	31.5	DGKE CFP CFI CFHR5 CFHR3 CFHR2
14	chronic kidney disease	31.5	THBD COL4A5 CFI CFHR5 CFHR1 CFH
15	malignant hypertension	31.4	THBD CFHR2 CFH ADAMTS13
16	hemoglobinuria	31.4	THBD CFI C5 C3
17	kidney disease	31.4	THBD COL4A5 CFHR5 CFH C3
18	membranoproliferative glomerulonephritis	31.4	DGKE CFP CFHR5 CFHR2 CFH CFB
19	severe pre-eclampsia	31.3	CFH CFB C5 C3
20	paroxysmal nocturnal hemoglobinuria	31.3	THBD CFI C5 C3
21	hellp syndrome	31.3	THBD CFI CFH CD46 ADAMTS13
22	iga glomerulonephritis	31.3	CFP CFHR2 CFH C3
23	pneumococcal meningitis	31.2	C5 C3
24	meningitis	31.1	CFP CFI CD46 C3
25	macular degeneration, age-related, 1	31.1	CFP CFI CFHR5 CFHR4 CFHR3 CFHR2
26	kidney cortex necrosis	31.0	MMACHC CFI ADAMTS13
27	dense deposit disease	31.0	DGKE CFHR5 CFHR2 CFH CFB C5
28	neisseria meningitidis infection	31.0	CFP CD46 C3
29	methylmalonic aciduria and homocystinuria, cblc type	31.0	MMACHC DGKE CFH CFB ADAMTS13
30	methylmalonic acidemia	31.0	MMACHC DGKE CFHR2 CFH ADAMTS13
31	acute poststreptococcal glomerulonephritis	30.9	CFP CFHR5 CFHR2 C5 C3
32	complement component 5 deficiency	30.9	CFP CFHR2 CD46 C5 C3AR1 C3
33	enterocolitis	30.8	CFH CFB CD46 C3
34	antiphospholipid syndrome	30.8	THBD CFH C3 ADAMTS13
35	catastrophic antiphospholipid syndrome	30.8	CFH ADAMTS13
36	thrombotic thrombocytopenic purpura, hereditary	30.7	CFH ADAMTS13
37	systemic lupus erythematosus	30.7	THBD CFI CFHR2 CFB CD46 C5
38	afibrinogenemia, congenital	30.7	CFP CFI CFHR2 CD46 C3
39	immune-complex glomerulonephritis	30.6	CFI CFHR2 C3
40	rapidly progressive glomerulonephritis	30.6	CFP C5 C3
41	alport syndrome	30.6	COL4A5 CFHR5 CFH
42	macular degeneration, age-related, 4	30.6	CFH CFB
43	complement deficiency	30.4	DGKE CFP CFI CFHR5 CFHR4 CFHR3
44	hemolytic uremic syndrome, atypical, childhood	11.7
45	hemolytic uremic syndrome, atypical 2	11.6
46	hemolytic uremic syndrome, atypical 3	11.6
47	hemolytic uremic syndrome, atypical 4	11.6
48	hemolytic uremic syndrome, atypical 5	11.6
49	hemolytic uremic syndrome, atypical 6	11.6
50	d-minus hemolytic uremic syndrome	11.4

Graphical network of the top 20 diseases related to Hemolytic Uremic Syndrome, Atypical 1:

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Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 1

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

⁵⁸ ³¹ (show top 50) (show all 56)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	proteinuria ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000093
2	thrombocytopenia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%),Frequent (79-30%)	HP:0001873
3	hematuria ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000790
4	acute kidney injury ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%),Frequent (79-30%)	HP:0001919
5	microangiopathic hemolytic anemia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%),Frequent (79-30%)	HP:0001937
6	abnormal lactate dehydrogenase level ³¹	hallmark (90%)		HP:0045040
7	vomiting ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002013
8	abdominal pain ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002027
9	unconjugated hyperbilirubinemia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008282
10	elevated serum creatinine ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003259
11	decreased serum complement factor b ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005416
12	decreased serum complement factor i ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005356
13	decreased level of thrombomodulin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0040229
14	dysfunctional alternative complement pathway ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005423
15	anuria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100519
16	hypertension ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000822
17	dehydration ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001944
18	hypokalemia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002900
19	irritability ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000737
20	hyponatremia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002902
21	reticulocytosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001923
22	leukocytosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001974
23	excessive daytime somnolence ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001262
24	hemoglobinuria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003641
25	bloody diarrhea ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0025085
26	intestinal perforation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0031368
27	schistocytosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001981
28	acute colitis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100282
29	seizure ³¹	occasional (7.5%)		HP:0001250
30	increased lactate dehydrogenase level ³¹	occasional (7.5%)		HP:0025435
31	myocardial infarction ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001658
32	rectal prolapse ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002035
33	coma ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001259
34	pancreatitis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001733
35	peritonitis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002586
36	intussusception ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002576
37	colonic stenosis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0012851
38	diarrhea ⁵⁸ ³¹		Frequent (79-30%)	HP:0002014
39	seizures ⁵⁸		Occasional (29-5%)
40	dysphasia ³¹			HP:0002357
41	cognitive impairment ³¹			HP:0100543
42	fever ³¹			HP:0001945
43	hyperlipidemia ³¹			HP:0003077
44	purpura ³¹			HP:0000979
45	abnormality of the nervous system ⁵⁸		Occasional (29-5%)
46	abnormality of metabolism/homeostasis ⁵⁸		Very frequent (99-80%)
47	hemiparesis ³¹			HP:0001269
48	abnormality of blood and blood-forming tissues ⁵⁸		Very frequent (99-80%)
49	abnormality of complement system ⁵⁸		Frequent (79-30%)
50	complement deficiency ⁵⁸		Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Neurologic Central Nervous System:
seizures
dysphasia
coma
hemiparesis
global and focal neurologic abnormalities (less than 30%)
more

Hematology:
thrombocytopenia
reticulocytosis
microangiopathic hemolytic anemia
thrombotic microangiopathy
schistocytes
more

Genitourinary Kidneys:
anuria
acute renal failure

Abdomen Gastrointestinal:
prodrome of gastroenteric diarrhea, usually caused by e. coli 0157-h7 or shigella in young children (typical hus)

Metabolic Features:
fever

Laboratory Abnormalities:
hyperlipidemia
increased blood urea nitrogen (bun)
decreased hemoglobin
increased creatinine
decreased serum factor h (atypical hus)
more

Cardiovascular Vascular:
hypertension (especially in atypical hemolytic-uremic syndrome (ahus))

Immunology:
complement component consumption
defective complement regulation
activation of the complement system
some patients may have autoantibodies to factor h, resulting in functional factor h deficiency

Clinical features from OMIM®:

235400 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10	ADAMTS13 BAAT C3 C3AR1 C5 CFB
2	immune system	MP:0005387	9.77	ADAMTS13 BAAT C3 C3AR1 C5 CFB
3	renal/urinary system	MP:0005367	9.32	C3 C3AR1 C5 CFB CFH CFI

Sources

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 1

Drugs for Hemolytic Uremic Syndrome, Atypical 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Epoetin alfa

Phase 4

113427-24-0

Hematinics

Phase 4

Ravulizumab

Approved, Investigational

Phase 3

1803171-55-2

Complement System Proteins

Phase 2, Phase 3

Immunologic Factors

Phase 3

Immunosuppressive Agents

Phase 3

Shiga Toxins

Phase 2, Phase 3

Pharmaceutical Solutions

Phase 2, Phase 3

Antibodies

Phase 2, Phase 3

Immunoglobulins

Phase 2, Phase 3

Immunoglobulins, Intravenous

Phase 2, Phase 3

Acetaminophen

Approved

Phase 2

103-90-2

1983

Synonyms:

4-(Acetylamino)phenol

4-acetamidophenol

4-Acetamidophenol

4-Acetaminophenol

4'-hydroxyacetanilide

4'-Hydroxyacetanilide

4-Hydroxyacetanilide

4-Hydroxyanilid kyseliny octove

A.F. anacin

Abenol

Abensanil

Abrol

Abrolet

AC1Q1KYJ

AC1Q1KYK

Acamol

Accu-tap

Accu-Tap

Acenol

Acephen

Acertol

Aceta elixir

Aceta Elixir

Aceta tablets

Aceta Tablets

Acetaco

Acetagesic

Acetalgin

Acetamidophenol

Acetaminofen

Acetaminofén

Acetaminophen

Acetaminophen uniserts

Acetaminophene

Acétaminophène

Acetamol

Acetavance

Acetofen

Acetominophen

Actamin

Actamin extra

Actamin super

Actifed plus

Actifed Plus

Actimol

Actimol chewable tablets

Actimol children's suspension

Actimol infants' suspension

Actimol junior strength caplets

Actron

Afebrin

Afebryl

Aferadol

Algesidal

Algina

Algomol

Algotropyl

Allay

alpha-Per

Alpiny

Alpinyl

Alvedon

Amadil

Aminofen

Aminofen max

Anacin

Anacin 3

Anacin3

Anacin-3

Anacin-3 extra strength

Anadin dla dzieci

Anaflon

Analter

Anapap

Andox

Anelix

Anexsia

Anexsia 10/660

Anexsia 5/325

Anexsia 7.5/325

Anexsia 7.5/650

Anhiba

Anoquan

Anti-algos

Antidol

Anuphen

Apacet

Apacet capsules

Apacet elixir

Apacet extra strength caplets

Apacet extra strength tablets

Apacet regular strength tablets

Apadon

Apamid

Apamide

APAP

a-Per

A-Per

Apitrelal

Apo-acetaminophen

Arfen

Arthralgen

Asetam

Asomal

Aspac

Aspirin free anacin maximum strength caplets

Aspirin free anacin maximum strength gel caplets

Aspirin free anacin maximum strength tablets

Aspirin-free anacin

Aspirin-free excedrin caplets

Asplin

Atasol

Atasol caplets

Atasol drops

Atasol forte caplets

Atasol forte tablets

Atasol oral solution

Atasol tablets

Atralidon

Babikan

Bacetamol

Bancap

Bancap HC

Banesin

Bayer Select

Bayer select allergy-sinus

Bayer select head cold

Bayer select headache pain

Bayer select maximum strength headache pain relief formula

Bayer select menstrual multi-symptom

Bayer select sinus pain relief

Benmyo

Ben-u-ron

Bickie-mol

Biocetamol

Bucet

Butalbital

Butapap

Cadafen

Calapol

Calmanticold

Calonal

Calpol

Capital

Capital with codeine

Captin

Causalon

CCRIS 3

Cefalex

Cetadol

CHEBI:46195

Children'S acetaminophen elixir drops

Children'S acetaminophen oral solution

Children'S tylenol chewable

Claradol codeine

Clixodyne

Codabrol

COD-Acamol forte

Codalgin

Codapane

Codicet

Codisal

Codisal forte

Codoliprane

Codral pain relief

Cofamol

Co-Gesic

CO-Gesic

Conacetol

Contac cough & sore throat formula

Contra-schmerz p

Coricidin

Coricidin D

Coricidin sinus

Cosutone

Croix blanche

Cuponol

Curadon

Curpol

Custodial

D oliprane

Dafalgan

Dapa

Dapa X-S

Darocet

Darvocet

Darvocet-N 50

Datril

Datril extra-strength

Daygrip

Demilets

Deminofen

Democyl

Demogripal

Desfebre

Dhamol

DHC Plus

Dial-a-gesic

Dial-alpha-gesic

Dimindol

Dirox

Disprol

Dolcor

Dolefin

Dolegrippin

Dolene ap-65

Dolene AP-65

Dolgesic

Doliprane

Dolko

Dolofugin

Doloreduct

Dolorfug

Dolorol forte

Dolorstop

Dolotec

Dolprone

Dol-stop

Dorocoff

Dresan

Dristan cold no drowsiness

Dristancito

Drixoral Plus

Duaneo

Dularin

Duorol

Duracetamol

Duradyne DHC

Durapan

Dymadon

Dymadon co

Dymadon Co

Dymadon forte

Dypap

Ecosetol

Elixodyne

Empracet

Endecon

Enelfa

Eneril

Esgic

Esgic-plus

Eu-med

Eu-Med

Excedrin

Excedrin caplets

Excedrin extra strength caplets

Excipain

Exdol

Exdol strong

Fanalgic

Farmadol

Febranine

Febrectal

Febrectol

Febrex

Febricet

Febridol

Febrilix

Febrin

Febrinol

Febro-gesic

Febro-Gesic

Febrolin

Femcet

Fendon

Fensum

Fepanil

Fever All

Feverall

Feverall junior strength

Feverall sprinkle caps junior strength

Fevor

Finimal

Finiweh

Fioricet

Fluparmol

Fortalidon p

Fortalidon P

Freka-cetamol

Gattaphen T

Gelocatil

Geluprane

Genapap

Genapap children's elixir

Genapap children's tablets

Genapap extra strength caplets

Genapap extra strength tablets

Genapap regular strength tablets

Genebs

Genebs extra strength caplets

Genebs regular strength tablets

Genebs X-tra

Geralgine-p

Geralgine-P

Gripin bebe

Gripin Bebe

Grippostad

Gynospasmine

Hedex

Helon N

Homoolan

Hycomine compound

Hydrocet

Hydroxyacetanilide

Hy-phen

Hy-Phen

Ildamol

Inalgex

Infadrops

Infants' feverall

Influbene N

Injectapap

Intensin

Janupap

Jin Gang

Junior disprol

Kataprin

KBio1_000660

Kinder finimal

Korum

Kratofin simplex

L024125

Labamol

Lekadol

Lemgrip

Lemsip

Lestemp

Liqiprine

Liquagesic

Liquigesic co

Liquiprin

Liquiprin children's elixir

Liquiprin infants" drops

Lonarid

Lonarid mono

Lonarid Mono

Lorcet-HD

Lortab

Lupocet

Lyteca

Lyteca syrup

Lyteca Syrup

Magnidol

Malex N

Malgis

Malidens

Maxadol

Medigesic plus

Medinol paediatric

Medocodene

Melabon infantil

Mexalen

Midol maximum strength

Midol PM night time formula

Midol regular strength

Midol teen formula

Migraleve yellow

Minafen

Minoset

Miralgin

Momentum

mono Praecimed

Multin

N-(4-Hydroxyphenyl)acetamide

N-(4-Hydroxyphenyl)acetanilide

N-Acetyl-4-aminophenol

N-acetyl-p-aminophenol

N-Acetyl-p-aminophenol

Naldegesic

NAPA

Napafen

Napap

Naprinol

NCX 701

Nealgyl

Nebs

NEBS

NeoCitran

Neodol

Neodolito

Neo-fepramol

Neo-Fepramol

Neopap

Neotrend

Neuridon

New cortal for children

NilnOcen

Nina

Nobedon

Nodolex

NO-Febril

Noral

Norcet

Norco

NSC3991

O-Acetaminophenol

Ofirmev

Oltyl

Oralgan

Oraphen-PD

Ortensan

Oxycet

Oxycocet

Oxycodone 2.5/apap 500

Oxycodone 5/apap 500

p-(Acetylamino)phenol

Paceco

Pacemo

Pacemol

Pacet

p-acetamidophenol

p-Acetamidophenol

p-acetaminophenol

p-Acetaminophenol

p-Acetylaminophenol

Pacimol

Paedialgon

Paedol

Painex

Paldesic

Pamol

Panacete

Panadeine

Panadeine co

Panadeine Co

Panadiene

Panado-co

Panado-Co

Panado-co caplets

Panadol

Panadol extra strength

Panadol junior strength caplets

Panadol maximum strength caplets

Panadol maximum strength tablets

Panale ve

Panaleve

Panamax

Panasorb

Panasorbe

Panets

Panex

Panodil

Panofen

Pantalgin

Papa-Deine

Papa-deine #3

Papa-deine #4

Paracemol

Paracenol

Paracet

Paracetamol

Paracétamol

Paracetamol al

Paracetamol antipanin p

Paracetamol basics

Paracetamol BC

Paracetamol DC

Paracetamol dr. schmidgall

Paracetamol fecofar

Paracetamol genericon

Paracetamol hanseler

Paracetamol harkley

Paracetamol heumann

Paracetamol hexal

Paracetamol italfarmaco

Paracetamol nycomed

Paracetamol PB

Paracetamol raffo

Paracetamol ratiopharm

Paracetamol rosch

Paracetamol saar

Paracetamol smithkline beecham

Paracetamol stada

Paracetamol von CT

Paracetamol winthrop

Paracetamole

Paracetamolo

Paracetamolum

Paracetanol

Paracetol

Paracin

Paracod

Paracodol

Parador

Paradrops

Parakapton

Parake

Paralen

Paralief

Paralink

Paralyoc

Paramol

Paramolan

Paranox

Parapan

Parasedol

Parasin

Paraspen

Para-suppo

Para-Suppo

Para-tabs

Parcetol

Parelan

Parmol

Parogal

Paroma

Pasolind

Pasolind N

PCM Paracetamol lichtenstein

Pediapirin

Pediatrix

Pedric

Percocet

Percocet-5

Percocet-demi

Percogesic with codeine

Perdolan mono

Perfalgan

Pe-tam

Pe-Tam

Phenaphen

Phenaphen caplets

Phenaphen Caplets

Phenaphen w/codeine

Phendon

Phenipirin

Phogoglandin

Phrenilin

Phrenilin forte

Phrenilin Forte

p-hydroxy-acetanilid

p-hydroxyacetanilide

p-Hydroxyacetanilide

p-hydroxyphenolacetamide

p-Hydroxyphenolacetamide

Pinex

Piramin

Pirinasol

Plicet

Polmofen

Predimol

Predualito

Prestwick_13

Prodol

Prompt

Prontina

Propacet

Propacet 100

Proval #3

Puernol

Pulmofen

Pyregesic-C

Pyrigesic

Pyrinazine

Pyromed

Quiet world

Redutemp

Reliv

Remedol

Rhinex D-lay tablets

Rivalgyl

Robigesic

Robitussin night relief

Rockamol plus

Rounox

Roxicet

Roxicet 5/500

Roxilox

RubieMol

Rubophen

Rupemol

Salzone

Sanicet

Sanicopyrine

Scanol

Scentalgyl

Scherzatabletten rezeptur 534

Schmerzex

Sedalito

Sedapap

Semolacin

Servigesic

Seskamol

Setakop

Setamol

Setol

Sifenol

Sinaspril

Sinedol

Sine-OFF sinus medicine caplets

Sinmol

Sinubid

SK-Apap

Snaplets-FR

Spalt fur die nacht

Spalt N

SPBio_002836

ST Joseph aspirin-free

ST Joseph aspirin-free for children

St. joseph cold tablets for children

St. joseph fever reducer

St. Joseph Fever Reducer

Stanback

Stopain

Sudafed severe cold formula

Sudafed sinus

Sunetheton

Supac

Supadol mono

Supofen

Suppap

Suppap-120

Suppap-325

Suppap-650

Supramol-m

Supramol-M

Synalgos-Dc-A

Synalgos-DC-a

Tabalgin

Tachiprina

Talacen

Tapanol

Tapanol extra strength caplets

Tapanol extra strength tablets

Tapar

Tavist allergy/sinus/headache

Tavist Allergy/Sinus/Headache

Tazamol

Temlo

Tempanal

Tempra

Tempra caplets

Tempra chewable tablets

Tempra d.s

Tempra drops

Tempra syrup

Tencon

Termacet

Termalgin

Termalgine

Termofren

TheraFlu

Tibinide

Tibizide

Tiffy

Tisin

Tisiodrazida

Titralgan

Tizide

Tocris-1706

Toximer p

Toximer P

Tralgon

Treupel mon

Treupel N

Treuphadol

Triad

Triaminic sore throat formula

Triaprin

Tricoton

Tussapap

Ty lenol

Tycolet

TYL

Tylenol

Tylenol (TN)

Tylenol allergy sinus

Tylenol arthritis extended relief

Tylenol caplets

Tylenol children's chewable tablets

Tylenol children's elixir

Tylenol children's suspension liquid

Tylenol drops

Tylenol elixir

Tylenol extra strength adult liquid pain reliever

Tylenol extra strength caplets

Tylenol extra strength gelcaps

Tylenol extra strength tablets

Tylenol gelcaps

Tylenol infants drops

Tylenol infants" suspension drops

Tylenol junior strength caplets

Tylenol junior strength chewable tablets

Tylenol regular strength caplets

Tylenol regular strength tablets

Tylenol tablets

Tylex

Tylex CD

Tylol

Tylox

Tylox-325

Tymol

Ultracet

Upsanol

Utragin

Valadol

Valgesic

Valorin

Valorin extra

Valorin Extra

Vanquish

Veralgina

Vermidon

Verpol

Viclor richet

Vicodin

Vicodin es

Vicodin HP

Vips

Viruflu

Vivimed

Volpan

Wygesic

Zatinol

Zolben

Promethazine

Approved, Investigational

Phase 2

60-87-7

4927

Synonyms:

(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine

(2-Dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine

(Dimethylamino-2-propyl-10-phenothiazine hydrochloride

10-(2-(Dimethylamino)-2-methylethyl)phenothiazine

10-(2-(Dimethylamino)propyl)phenothiazine

10-(2-Dimethylaminopropyl)phenothiazine

10-[2-(dimethylamino)propyl]phenothiazine

10-[2-(Dimethylamino)propyl]phenothiazine

10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl- (9CI)

10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl-, radical ion(1+)

3277 RP

3389 R.p.

38878-40-9

4182 R.p.

4-27-00-01253 (Beilstein Handbook Reference)

60-87-7

73745-50-3

A-91033

AB00053535

AC-15939

AC1L1J92

Antiallersin

Aprobit

Atosil

Avomine

BPBio1_000744

BRN 0088554

BSPBio_000676

BSPBio_002777

C07404

Camergan

CCRIS 7056

CHEBI:8461

CHEMBL643

CID4927

D00494

DB01069

Dimapp

Dimethylamino-isopropyl-phenthiazin

Dimethylamino-isopropyl-phenthiazin [German]

Diphergan

Diprazin

Diprazine

Diprozin

DivK1c_000005

EINECS 200-489-2

Fargan

Fenazil

Fenetazina

Fenetazine

Genphen

Hiberna

Histargan

HMS2089E08

HSDB 3173

Hydrochloride, promethazine

IDI1_000005

Iergigan

InChI=1/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3

Isophenergan

Isopromethazine

KBio1_000005

KBio2_001348

KBio2_003916

KBio2_006484

KBio3_001997

KBioGR_001697

KBioSS_001348

L000495

Lercigan

Lergigan

Lilly 01516

Lilly 1516

Lopac0_000899

LS-264

Metaryl

MolPort-001-783-684

N-(2'-dimethylamino-2'-methyl)ethylphenothiazine

N-(2'-Dimethylamino-2'-methyl)ethylphenothiazine

N,N,alpha-trimethyl-10H-phenothiazine-10-ethanamine

N,N,alpha-Trimethyl-10H-phenothiazine-10-ethanamine

N,N,a-Trimethyl-10H-phenothiazine-10-ethanamine

N,N,α-trimethyl-10H-phenothiazine-10-ethanamine

N,N,Α-trimethyl-10H-phenothiazine-10-ethanamine

N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine

N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine

N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine hydrochloride

NCGC00015817-10

NCGC00089735-02

NCGC00089735-03

NCI60_001878

NCI-C60673

N-Dimethylamino-2-methylethyl thiodiphenylamine

NINDS_000005

NSC 30321

NSC30321

Oprea1_758749

Pelpica

Phargan

Phenargan

Phenergan

Phenerzine

Phenoject-50

Phensedyl

Pilothia

Pilpophen

Pipolfen

Pipolphen

Pipolphene

Prestwick0_000888

Prestwick1_000888

Prestwick2_000888

Prestwick3_000888

Pro-50

Proazaimine

Proazamine

Procit

Promacot

Promazinamide

Promergan

Promesan

Promet

Prometasin

Prometazin

Prometazina

Prometazina [INN-Spanish]

Prometazine

Prometh

Promethacon

Promethaine

Promethazin

promethazine

Promethazine

Promethazine (JAN/INN)

PROMETHAZINE (SEE ALSO PROMETHAZINE HYDROCHLORIDE 58-33-3)

Promethazine [INN:BAN]

Promethazine hydrochloride

PromethazineHcl

Promethazinum

Promethazinum [INN-Latin]

Promethegan

Promethiazine

Promezathine

Prorex

Protazine

Prothazin

Prothazine

Provigan

Pyrethia

Pyrethiazine

Remsed

Romergan

RP 3277

Rumergan

SKF 1498

SPBio_000799

SPBio_002895

Spectrum_000868

Spectrum2_000840

Spectrum3_001019

Spectrum4_001149

Spectrum5_000977

Tanidil

Thiergan

UNII-FF28EJQ494

Valergine

Vallergine

WLN: T C666 BN ISJ B1Y1&N1&1

WY 509

Zipan-25

Prednisone

Approved, Vet_approved

Phase 2

53-03-2

5865

Synonyms:

(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione

(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione

(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione

.delta. E

.delta.(sup1)-Cortisone

.delta.1-Cortisone

.delta.1-Dehydrocortisone

.delta.-Cortelan

.delta.-Cortisone

.delta.-Cortone

.delta.-E

.delta.sone

1,2-Dehydrocortisone

1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione

1,4-Pregnadiene-17a,21-diol-3,11,20-trione

1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione

1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione

1,4-Pregnadiene-17α,21-diol-3,11,20-trione

17,21-Dihydroxypregna-1,4-diene-3,11,20-trione

17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione

1-Cortisone

1-Dehydrocortisone

53-03-2

68-59-7

81552_FLUKA

AC-11112

AC1L1LB2

AC1Q29EZ

Acis brand OF prednisone

ACon0_000082

ACon1_000297

Acsis, prednison

Adasone

AI3-52939

Ancortone

Apo-prednisone

Apo-Prednisone

Apotex brand OF prednisone

Aventis brand OF prednisone

Betapar

Bicortone

Bio-0649

BPBio1_000323

BRD-K85883481-001-04-2

BSPBio_000293

C07370

C21H26O5

Cartancyl

CCRIS 2646

CHEBI:8382

CHEMBL635

CID5865

Colisone

Cortan

Cortancyl

Cortidelt

Cotone

CPD001227202

Cutason

Dacorten

Dacortin

DB00635

Decortancyl

Decortin

Decortisyl

Dehydrocortisone

Dekortin

Delcortin

Dellacort

Dellacort A

delta cortelan

Delta Cortelan

Delta E

Delta E.

delta(sup 1)-Cortisone

delta(sup 1)-Dehydrocortisone

delta-1-Cortisone

delta-1-Dehydrocortisone

Delta-cortelan

Delta-Cortelan

Deltacortene

delta-Cortisone

Deltacortisone

Delta-cortisone

delta-Cortone

Deltacortone

Delta-cortone

Delta-dome

Delta-Dome

Deltasone

Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone

Deltison

Deltisona

Deltisone

Deltra

Diadreson

Di-Adreson

Diba brand OF prednisone

Econosone

EINECS 200-160-3

Encorton

Encortone

Enkortolon

Enkorton

Fawns and mcallan brand OF prednisone

Fernisone

Ferring brand OF prednisone

Fiasone

GALENpharma brand OF prednisone

Halsey drug brand OF prednisone

Hexal brand OF prednisone

HMS1568O15

HMS2090J13

Hoechst brand OF prednisone

Hostacortin

HSDB 3168

ICN brand OF prednisone

Incocortyl

In-Sone

Juvason

Kortancyl

Lichtenstein brand OF prednisone

Liquid pred

Liquid Pred

Lisacort

LMST02030180

Lodotra

LS-1325

MEGxm0_000443

Me-Korti

Merck brand OF prednisone

Merz brand OF prednisone

Metacortandracin

Meticorten

Meticorten (Veterinary)

Metrevet (Veterinary)

Mibe brand OF prednisone

MLS001061265

MLS001304073

MLS001335907

MLS001335908

MLS002154191

MLS002207083

MolPort-001-740-041

NCGC00090766-01

NCGC00090766-02

NCGC00090766-03

NCI60_000008

NCI-C04897

Nisona

Nizon

Novoprednisone

NSC 10023

NSC10023

Nurison

Orasone

Origen Prednisone

P1276

P6254_SIGMA

Panafcort

Panasol

Paracort

Parmenison

Pehacort

Pharmacia brand OF prednisone

PRD

Precort

Predeltin

Predni tablinen

Prednicen-M

Prednicorm

Prednicort

Prednicot

Prednidib

Prednilonga

Predniment

Prednison

Prednison acsis

Prednison galen

Prednison hexal

Prednisona

Prednisona [INN-Spanish]

Prednisone

Prednisone [INN:BAN]

Prednisone Intensol

Prednisonum

Prednisonum [INN-Latin]

Prednitone

Prednizon

Prednovister

Presone

Prestwick_405

Prestwick0_000077

Prestwick1_000077

Prestwick2_000077

Prestwick3_000077

Pronison

Pronisone

Rectodelt

Retrocortine

S1622_Selleck

SAM002264641

Schering-plough brand OF prednisone

Seatrace brand OF prednisone

Servisone

SK-Prednisone

SMR000718760

SMR001227202

Solvay brand OF prednisone

Sone

SPBio_002214

Sterapred

Supercortil

Trommsdorff brand OF prednisone

U 6020

Ultracorten

Ultracortene

UNII-VB0R961HZT

Winpred

WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ

Wojtab

Zenadrid

Zenadrid (veterinary)

Zenadrid [veterinary]

ZINC03875357

Diphenhydramine

Approved, Investigational

Phase 2

58-73-1, 147-24-0

3100

Synonyms:

147-24-0

147-24-0 (HYDROCHLORIDE)

2-(benzhydryloxy)-N,N-dimethylethylamine

2-(Benzhydryloxy)-N,N-dimethylethylamine

2-(Benzhydryloxy)-N,N-dimethylethylamine, hydrochloride

2-(diphenylmethoxy)-N,N-dimethylethanamine

2-(Diphenylmethoxy)-N,N-dimethylethylamine

2-[(diphenylmethyl)oxy]-N,N-dimethylethanamine

2-benzhydryloxyethyl-N,N-dimethylammonium

2-benzhydryloxy-N,N-dimethylethanamine

2-diphenylmethoxy-N,N-demthylethanamine

2-Diphenylmethoxy-N,N-demthylethanamine

2-Diphenylmethoxy-N,N-dimethylethylamine

2PM

58-73-1

88637-37-0 (citrate (1:1))

a-(2-Dimethylaminoethoxy)diphenylmethane

AB00053460

AC-13704

AC1L1F65

AKOS003658554

Aleryl

Alledryl

Allerdryl

Allergan

Allergan B

Allergeval

Allergical

Allergina

Allergival

Allermax Caplets

Aller-Med

alpha-(2-Dimethylaminoethoxy)diphenylmethane

Amidryl

Antistominum

Antitussive

Antomin

Automin

Bagodryl

Banophen

Banophen Caplets

Baramine

b-Dimethylaminoethanol diphenylmethyl ether

b-Dimethylaminoethyl benzhydryl ether

Beldin

Belix

Bena

Benachlor

Benadrin

Benadryl

Benadryl (hydrochloride)

Benadryl Allergy

BENADRYL HCl

Ben-allergin

Benapon

Bendylate

Benhydramin

Benodin

Benodine

Benylan

Benylin

Benzantin

Benzantine

Benzhydramine

Benzhydraminum

Benzhydril

Benzhydroamina

Benzhydryl

beta-Dimethylamino-aethyl-benzhydryl-aether

beta-Dimethylamino-aethyl-benzhydryl-aether [German]

beta-Dimethylaminoethanol diphenylmethyl ether

beta-dimethylaminoethyl benzhydryl ether

beta-Dimethylaminoethyl benzhydryl ether

beta-Dimethylaminoethylbenzhydrylether

Betramin

BIDD:GT0152

BPBio1_000275

BRD-K47278471-003-05-7

BRN 1914136

BSPBio_000249

BSPBio_002219

CAS-147-24-0

CCRIS 1959

CHEBI:127629

CHEBI:4636

CHEMBL657

CID3100

Citrate, diphenhydramine

Compoz

CPD-10890

D00300

Dabylen

DB01075

DB06975

Debendrin

Dermistina

Dermodrin

Desentol

Diabenyl

Diabylen

Dibendrin

Dibenil

Dibondrin

Difedryl

Difenhidramina

Difenhidramina [INN-Spanish]

Difenhydramin

Difenhydramine

Difenidramina

Difenidramina [Italian]

Dihidral

Dimedrol

Dimedrol base

Dimedrolum

Dimedryl

Dimehydrinate

Dimethylamine benzhydryl ester

Diphamine

Diphantine

Diphen

Diphen Cough

Diphenhist

Diphenhist Captabs

diphenhydramine

Diphenhydramine

Diphenhydramine (JP15/INN)

Diphenhydramine [INN:BAN:JAN]

Diphenhydramine Base

Diphenhydramine citrate

Diphenhydramine citrate (1:1)

Diphenhydramine HCl

Diphenhydramine hydrochloride

DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE

Diphenhydraminum

Diphenhydraminum [INN-Latin]

Diphenylhydramin

Diphenylhydramine

DivK1c_000368

Dobacen

Dormarex 2

Dormin

Dryistan

Drylistan

Dylamon

EINECS 200-396-7

Etanautine

FAR 90X2

Genahist

Histaxin

HMS2089E06

HSDB 3066

Hyadrine

Hydramine

Hydrochloride, diphenhydramine

Hyrexin

I14-6749

Ibiodral

IDI1_000368

KBio1_000368

KBio2_001460

KBio2_004028

KBio2_006596

KBio3_001439

KBioGR_001099

KBioSS_001460

L000227

Lopac0_000377

Lopac-D-3630

LS-68208

Medidryl

Mephadryl

MLS002222276

MolPort-001-783-508

N-(2-(diphenylmethoxy)ethyl)-N,N-dimethylamine

N-(2-(Diphenylmethoxy)ethyl)-N,N-dimethylamine

N-(Benzhydryloksy-etylo)dwumetyloamina

N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]

N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride

N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE

Nausen

NCGC00015335-01

NCGC00015335-02

NCGC00015335-03

NCGC00015335-10

NCGC00024414-03

NCGC00024414-04

nchembio747-comp18

NCI60_002916

NCI60_022782

Nervine Nighttime Sleep-Aid

NINDS_000368

Novamina

NSC665800

Nytol Quickcaps

Nytol Quickgels

O-benzhydryldimethylaminoethanol

O-Benzhydryldimethylaminoethanol

Oprea1_254625

PM 255

Prestwick0_000065

Prestwick1_000065

Prestwick2_000065

Prestwick3_000065

Probedryl

Restamin

Restamin (TN)

Rigidil

S51

Siladryl

Silphen

Sleep-Eze D

Sleep-Eze D Extra Strength

SMR001307259

SPBio_000961

SPBio_002170

Spectrum_000980

Spectrum2_000961

Spectrum3_000400

Spectrum4_000520

Spectrum5_000915

STK103720

STOCK2S-94461

Syntedril

Syntodril

TL8003758

Twilite Caplets

UNII-8GTS82S83M

Unisom Sleepgels Maximum Strength

α-(2-dimethylaminoethoxy)diphenylmethane

Α-(2-dimethylaminoethoxy)diphenylmethane

β-dimethylaminoethanol diphenylmethyl ether

Β-dimethylaminoethanol diphenylmethyl ether

β-dimethylaminoethyl benzhydryl ether

Β-dimethylaminoethyl benzhydryl ether

rituximab

Approved

Phase 2

174722-31-7

10201696

Synonyms:

AntiCD20

IDEC-102

IDEC-C2B8

Ig gamma-1 chain C region

Mabthera

MabThera

Rituxan

rituximab

Rituximab

rituximab-abbs

rituximab-arrx

rituximab-pvvr

Antineoplastic Agents, Immunological

Phase 2

Antirheumatic Agents

Phase 2

Androgen Receptor Antagonists

Phase 2

Metoclopramide

Approved, Investigational

364-62-5

4168

Synonyms:

(metaclopramide)4-Amino-5-chloro-N-(2-diethylamino-ethyl)-2-methoxy-benzamide

(metoclopramide)4-Amino-5-chloro-N-(2-diethylamino-ethyl)-2-methoxy-benzamide

1,5-Dimethyl-2-phenyl-1,2-dihydro-pyrazol-3-one

2576-84-3 (di-hydrochloride)

2-methoxy-4-amino-5-chloro-N,N-(dimethylaminoethyl)benzamide

2-Methoxy-4-amino-5-chloro-N,N-(dimethylaminoethyl)benzamide

2-Methoxy-4-amino-5-chloro-N,N-dimethylaminoethyl)benzamide

2-methoxy-5-chloroprocainamide

2-Methoxy-5-chloroprocainamide

364-62-5

4 Amino-5-chloro-N-(2-(diethylamino)ethyl)-2-methoxybenzamide

4-Amino-5-chloro-2-methoxy-N-(b-diethylaminoethyl)benzamide

4-Amino-5-chloro-2-methoxy-N-(beta-diethylaminoethyl)benzamide

4-amino-5-chloro-2-methoxy-N-(β-diethylaminoethyl)benzamide

4-Amino-5-chloro-2-methoxy-N-(β-diethylaminoethyl)benzamide

4-Amino-5-chloro-N-(2-(diethylamino)ethyl)-2-methoxybenzamide

4-amino-5-chloro-N-(2-(diethylamino)ethyl)-o-anisamide

4-Amino-5-chloro-N-(2-(diethylamino)ethyl)-o-anisamide

4-Amino-5-chloro-N-(2-(diethylamino)ethyl)-O-anisamide

4-amino-5-chloro-N-(2-diethylaminoethyl)-2-methoxybenzamide

4-Amino-5-chloro-N-(2-diethylamino-ethyl)-2-methoxy-benzamide

4-Amino-5-chloro-N-(2-diethylamino-ethyl)-2-methoxy-benzamide (Mcp)

4-Amino-5-chloro-N-(2-diethylamino-ethyl)-2-methoxy-benzamide (metoclopramide)

4-Amino-5-chloro-N-(2-diethylamino-ethyl)-2-methoxy-benzamide(Metoclopramide)

4-amino-5-chloro-N-[2-(diethylamino)ethyl]-2-methoxybenzamide

54143-57-6 (mono-hydrochloride, mono-hydrate)

5-Chloro-2-methoxyprocainamide

7232-21-5 (mono-hydrochloride)

AB00053498

AC1L1HKD

AKOS000280832

Apo-Metoclop

ARONIS24307

Benzamide, 4-amino-5-chloro-N-(2-(diethylamino)ethyl)-2-methoxy- (9CI)

Berk brand OF metoclopramide hydrochloride

Biomol-NT_000082

bmse000779

BPBio1_000217

BPBio1_001100

BRD-K75641298-001-01-5

BRD-K75641298-003-05-2

BRN 1884366

BSPBio_000197

BSPBio_002027

C07868

C14H22ClN3O2

CAS-7232-21-5

Cerucal

CHEBI:107736

CHEMBL86

CID4168

Clopra

CLOPRA-"YELLOW"

Clopra-Yellow

Clopromate

D00726

DB01233

DEL

DEL 1267

Dihydrochloride, metoclopramide

DivK1c_000069

Duraclamid

EINECS 206-662-9

Elieten

Elieten (TN)

Emetid

Emitasol

Emperal

Eucil

Gastrese

Gastrobid

Gastromax

Gastronerton

Gastrosil

Gastrotablinen

Gastrotem

Gastro-Timelets

HMS2089G16

Hydrochloride, metoclopramide

IDI1_000069

Imperan

KBio1_000069

KBio2_002118

KBio2_004686

KBio2_007254

KBio3_001527

KBioGR_001307

KBioSS_002118

L001078

Lopac0_000762

Lopac-M-0763

LS-20038

Maxeran

Maxolon

Meclopran

Metaclopramide

Metaclopromide

Metamide

Methochlopramide

Methoclopramide

Metochlopramide

Metoclol

Metoclopramida

Metoclopramida [INN-Spanish]

metoclopramide

Metoclopramide

Metoclopramide (JP15/INN)

Metoclopramide [INN:BAN:JAN]

Metoclopramide dihydrochloride

Metoclopramide Hcl

Metoclopramide hydrochloride

Metoclopramide Hydrochloride

Metoclopramide Intensol

Metoclopramide monohydrochloride

Metoclopramide monohydrochloride, monohydrate

Metoclopramide Monohydrochloride, Monohydrate

Metoclopramide Omega

Metoclopramidum

Metoclopramidum [INN-Latin]

Metocobil

Metramid

MolPort-000-883-854

Monohydrochloride, metoclopramide

Moriperan

Mygdalon

N-(Diethylaminoethyl)-2-methoxy-4-amino-5-chlorobenzamide

NCGC00015643-01

NCGC00015643-02

NCGC00015643-03

NCGC00015643-08

NCGC00024440-03

NCGC00024440-04

NCI60_003185

Neu-Sensamide

NINDS_000069

Nu-Metoclopramide

o-Anisamide, 4-amino-5-chloro-N-(2-(diethylamino)ethyl)- (8CI)

Octamide

Parmid

Paspertin

Peraprin

Plasil

Plasil (pharmaceutical)

Pms-Metoclopramide

Pramidin

Pramiel

Pramin

Prestwick0_000209

Prestwick1_000209

Prestwick2_000209

Prestwick3_000209

Primperan

Reclomide

Reglan

Reliveran

Rimetin

SPBio_001740

SPBio_002118

Spectrum_001638

Spectrum2_001720

Spectrum3_000504

Spectrum4_000964

Spectrum5_001449

ST024773

Temmler brand OF metoclopramide hydrochloride

Terperan

Terperan (TN)

UNII-L4YEB44I46

dipyrone

522325

Interventional clinical trials:

(show all 44)

#	Name	Status	NCT ID	Phase	Drugs
1	Multicentric, Prospective Open-label Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With Atypical Hemolytic Uremic Syndrome (aHUS)	Completed	NCT02574403	Phase 4	eculizumab
2	Effect of Erythropoietin on Red Blood Cell Requirement in Children With Hemolytic Uremic Syndrome: a Randomized Controlled Trial	Completed	NCT03776851	Phase 4	erythropoietin
3	A Phase 3 Study to Evaluate the Safety and Efficacy of OMS721 for the Treatment of Atypical Hemolytic Uremic Syndrome (aHUS) in Adults and Adolescents	Unknown status	NCT03205995	Phase 3
4	An Open-Label, Multi-Center Trial of Eculizumab in Patients With Shiga-Toxin Producing Escherichia Coli Hemolytic-Uremic Syndrome (STEC-HUS)	Completed	NCT01410916	Phase 2, Phase 3	Eculizumab (Soliris®)
5	Early Treatment With the Monoclonal C5 Antibody Eculizumab in Pediatric Patients Affected by Shiga-toxin Related Hemolytic and Uremic Syndrome: A Phase III Prospective Randomized Controlled Therapeutic Trial Versus Placebo	Completed	NCT02205541	Phase 3	Eculizumab;Placebo
6	CONSERVE: rVA576 (Coversin) Long Term Safety and Efficacy Surveillance Study	Recruiting	NCT03829449	Phase 3	rVA576 (Coversin)
7	A Phase 3, Open-Label, Multicenter Study of ALXN1210 in Children and Adolescents With Atypical Hemolytic Uremic Syndrome (aHUS)	Active, not recruiting	NCT03131219	Phase 3
8	Single Arm Study of ALXN1210 in Complement Inhibitor Treatment-naïve Adult and Adolescent Patients With Atypical Hemolytic Uremic Syndrome (aHUS)	Active, not recruiting	NCT02949128	Phase 3
9	A Double-blind, Placebo-controlled, Adaptive, Phase 2/3 Study to Evaluate the Pharmacokinetics, Safety, and Efficacy of INM004 in Pediatric Patients With Shiga Toxin-positive Bloody Diarrhea for Prevention of Hemolytic Uremic Syndrome	Suspended	NCT04132375	Phase 2, Phase 3	INM004;Placebo
10	Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated	Terminated	NCT00004465	Phase 3	SYNSORB Pk;Placebo
11	The Plasma Large-Volume Exchange Randomized Controlled Trial (PLEX-RCT)	Withdrawn	NCT01433003	Phase 3
12	A Phase II Study Evaluating the Efficacy of Rituximab in the Management of Patients With Relapsed/Refractory Thrombotic Thrombocytopenic Purpura (TTP) - Hemolytic Uremic Syndrome (HUS)	Unknown status	NCT00531089	Phase 2	Rituximab
13	The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS)	Completed	NCT01757431	Phase 2	Eculizumab
14	An Open-Label, Multi-Center Controlled Clinical Trial Of Eculizumab in Adolescent Patients With Plasma Therapy-Sensitive Atypical Hemolytic Uremic Syndrome (AHUS)	Completed	NCT00844428	Phase 2	eculizumab
15	An Open-label, Multi-center Controlled Clinical Trial of Eculizumab in Adult Patients With Plasma Therapy-sensitive Atypical Hemolytic Uremic Syndrome (AHUS)	Completed	NCT00838513	Phase 2	eculizumab
16	An Open-Label, Multi-Center Controlled Clinical Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Resistant Atypical Hemolytic Uremic Syndrome (aHUS)	Completed	NCT00844844	Phase 2	Eculizumab
17	An Open-Label, Multi-Center Controlled Clinical Trial of Eculizumab in Adult Patients With Plasma Therapy-Resistant Atypical Hemolytic Uremic Syndrome (aHUS)	Completed	NCT00844545	Phase 2	Eculizumab
18	An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic Syndrome	Completed	NCT01194973	Phase 2	Eculizumab
19	An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic Syndrome	Completed	NCT01193348	Phase 2	Eculizumab
20	Early Intervention With Eculizumab to Treat Thrombotic Microangiopathy/Atypical Hemolytic Uremic Syndrome (TMA/aHUS)-Associated Multiple Organ Dysfunction Syndrome (MODS) in Hematopoietic Stem Cell Transplant (HCT) Recipients	Recruiting	NCT03518203	Phase 2	Eculizumab
21	An Open-label Phase 2 Study to Assess the Effect of C5aR Antagonist Therapy by CCX168 Oral Administration on ex Vivo Thrombus Formation and Disease Activity in ESRD Patients With Atypical Hemolytic Uremic Syndrome	Terminated	NCT02464891	Phase 2	CCX168
22	A Phase II, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Safety and Efficacy of Cemdisiran (ALN-CC5) Following Withdrawal of Chronic Eculizumab Therapy in Patients With Atypical HUS at High Risk of Recurrence	Withdrawn	NCT03999840	Phase 2	cemdisiran;Placebos
23	A Phase 2, Open Label, Multicenter Study of ALN-CC5 Administered Subcutaneously in Adult Patients With Atypical Hemolytic Uremic Syndrome	Withdrawn	NCT03303313	Phase 2	Cemdisiran
24	Inpatient Volume Expansion in Children With Shiga Toxin-Producing Escherichia Coli (STEC) Infection to Prevent Hemolytic Uremic Syndrome (HUS)	Withdrawn	NCT03275792	Phase 1	D5-0.9%NS;Routine home oral rehydration
25	A Observational Study to Determine the Prevalence of Pregnancy-related Thrombotic Thrombocytopenic Purpura and Atypical Haemolytic Uraemic Syndrome in Women Affected by Specific Obstetric Complications	Unknown status	NCT03605511
26	Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney Disease.	Unknown status	NCT00930423
27	Outcame of Cases With Hemolytic Uremic Syndrome Attending Assiut University Child Hospital	Unknown status	NCT03690024
28	Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and Adults	Unknown status	NCT02904863
29	Outbreak of Hemolytic Uremic Syndrome Linked to Escherichia Coli of Serotype O104:H4 in Bordeaux Urban Area, June 2011: Evaluation of Diagnostic, Prognostic and Pathophysiological Data	Completed	NCT01406288
30	A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS)	Completed	NCT01770951
31	A Research Study to Describe the Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS). An Assessment of Two Case Studies	Completed	NCT01755429
32	Repetitive Intestinal Lavage Using Polyethylene Glycol Solution in Patients With EHEC O104:H4 Infection During the German 2011 Outbreak for Prevention of Severe Thrombocytopenia With Subsequently Following Therapeutic Plasmapheresis	Completed	NCT01561248		polyethylene glycol solution for daily bowel lavage.
33	Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological Aspects	Completed	NCT01666548
34	The Role of Endothelium Dysfunction in Progression of CKD (Chronic Kidney Disease) After AKI (Acute Kidney Injury)	Completed	NCT00358306
35	An Observational, Non-Interventional, Multi-Center, Multi-National Study of Patients With Atypical Hemolytic-Uremic Syndrome (aHUS Registry)	Recruiting	NCT01522183
36	Prospective Observational Study of Long-term Pathogenic Treatment of Elizaria® in Patients With Atypical Hemolytic Uremic Syndrome	Recruiting	NCT04749810		Elizaria®
37	Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
38	Eculizumab Use in the Postpartum Period for the Treatment of Pregnancy Associated Atypical Hemolytic Uremic Syndrome: A Case Series	Active, not recruiting	NCT03574506
39	Usefulness of a Diagnostic Algorithm to Diagnose Thrombotic Microangiopathies in Pregnancy	Active, not recruiting	NCT03580941
40	Diagnostic and Risk Criteria for Complement Defects in Thrombotic Microangiopathy and Amplifying Conditions, Such as Severe Hypertension: The COMPETE Study.	Not yet recruiting	NCT04745195
41	An Observational, Multi-Center, Multi-National, Long Term Follow-Up Study of Atypical Hemolytic Uremic Syndrome (aHUS) Patients Treated With Eculizumab in a Prior Clinical Study	Terminated	NCT01522170
42	Evidence - Evaluation of Potential Predictors of Disease Progression in Patients With aHUS, Including Genetics, Biomarkers and Treatment	Terminated	NCT02614898
43	An Observational Study of All Forms of Thrombotic Microangiopathy in Pediatric Patients	Terminated	NCT00593229
44	The Role of Microparticles as a Biomarker in Distinguishing Between Thrombotic Thrombocytopenic Purpura (TTP) and Atypical Hemolytic Uremic Syndrome (aHUS)	Withdrawn	NCT02626663

Search NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 1

Sources

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 1

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 1:

#	Genetic test	Affiliating Genes
1	Atypical Hemolytic-Uremic Syndrome 1 ²⁹	CFH CFHR1 CFHR3
2	Atypical Hemolytic Uremic Syndrome ²⁹	CFHR4
3	Hemolytic Uremic Syndrome, Atypical, Susceptibility to ²⁹

Sources

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 1:

⁴⁰

Kidney, Endothelial, Liver, Heart, Skin, Pancreas, Neutrophil

Sources

Publications for Hemolytic Uremic Syndrome, Atypical 1

Articles related to Hemolytic Uremic Syndrome, Atypical 1:

(show top 50) (show all 1205)

#	Title	Authors	PMID	Year
1	Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation. ⁵⁷ ⁶ ⁶¹	Stahl AL...Karpman D	18268093	2008
2	Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. ⁶ ⁵⁷ ⁶¹	Jozsi M...Skerka C	18006700	2008
3	Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. ⁵⁷ ⁶ ⁶¹	Zipfel PF...Skerka C	17367211	2007
4	Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. ⁶¹ ⁶ ⁵⁷	Dragon-Durey MA...Weiss L	14978182	2004
5	Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. ⁵⁷ ⁶ ⁶¹	Perez-Caballero D...Sanchez-Corral P	11170895	2001
6	Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. ⁶¹ ⁶ ⁵⁷	Buddles MR...Goodship TH	10762557	2000
7	Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. ⁵⁷ ⁶ ⁶¹	Ying L...Landau D	10577907	1999
8	Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. ⁶ ⁵⁷	Caprioli J...International Registry of Recurrent and Familial HUS/TTP	16621965	2006
9	Familial haemolytic uraemic syndrome and an MCP mutation. ⁶ ⁵⁷	Noris M...International Registry of Recurrent and Familial HUS/TTP	14615110	2003
10	Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. ⁶ ⁵⁷	Manuelian T...Zipfel PF	12697737	2003
11	Human complement factor H deficiency associated with hemolytic uremic syndrome. ⁶ ⁵⁷	Rougier N...Weiss L	9848786	1998
12	Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H. ⁶ ⁵⁷	Ohali M...Landau D	9811382	1998
13	Genetic studies into inherited and sporadic hemolytic uremic syndrome. ⁶ ⁵⁷	Warwicker P...Goodship JA	9551389	1998
14	Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype. ⁶ ⁵⁷	Carreras L...Alsina J	7452889	1981
15	Familial haemolytic uraemic syndrome. ⁶ ⁵⁷	Edelsten AD...Tuck S	646435	1978
16	Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients. ⁶ ⁶¹	Besbas N...Ozaltin F	28056875	2017
17	The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies. ⁶ ⁶¹	Phillips EH...Scully MA	26559391	2016
18	Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome. ⁶¹ ⁶	Bhatia D...Bagga A	26307634	2015
19	Phenotypic expansion of DGKE-associated diseases. ⁶ ⁶¹	Westland R...Sanna-Cherchi S	24511134	2014
20	Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. ⁶ ⁶¹	Bresin E...European Working Party on Complement Genetics in Renal Diseases	23431077	2013
21	A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. ⁶ ⁶¹	Raychaudhuri S...Seddon JM	22019782	2011
22	Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. ⁶ ⁶¹	Maga TK...Smith RJ	20513133	2010
23	Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. ⁶ ⁶¹	Fakhouri F...Fremeaux-Bacchi V	20203157	2010
24	Atypical hemolytic-uremic syndrome. ⁶¹ ⁵⁷	Noris M...Remuzzi G	19846853	2009
25	Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. ⁶ ⁶¹	Fremeaux-Bacchi V...Atkinson JP	18796626	2008
26	A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity. ⁶¹ ⁵⁷	Blom AM...Goodship TH	18424762	2008
27	Genetic Atypical Hemolytic-Uremic Syndrome ⁶¹ ⁶	Noris M...Remuzzi G	20301541	2007
28	The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. ⁶ ⁶¹	Saunders RE...Perkins SJ	17089378	2007
29	Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. ⁶¹ ⁶	Goicoechea de Jorge E...Rodriguez de Cordoba S	17182750	2007
30	Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. ⁶ ⁶¹	Fremeaux-Bacchi V...Atkinson JP	16762990	2006
31	Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. ⁶¹ ⁶	Esparza-Gordillo J...Rodriguez de Cordoba S	15661753	2005
32	Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome. ⁵⁷ ⁶¹	Dragon-Durey MA...Fremeaux-Bacchi V	15590760	2005
33	Severe deficiency of the specific von Willebrand factor-cleaving protease (ADAMTS 13) activity in a subgroup of children with atypical hemolytic uremic syndrome. ⁶¹ ⁵⁷	Veyradier A...Loriat C	12640381	2003
34	Familial hemolytic uremic syndrome associated with complement factor H deficiency. ⁵⁷ ⁶¹	Landau D...Katchko L	11241053	2001
35	A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience. ⁶	Sheerin NS...Johnson S	25899302	2016
36	Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration. ⁶	Ferrara D...Seddon JM	25880396	2015
37	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. ⁶	Xiong HY...Frey BJ	25525159	2015
38	Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri. ⁶	Brocklebank V...Kavanagh D	24944786	2014
39	Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. ⁶	Zhan X...Abecasis GR	24036949	2013
40	Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations. ⁶	Alberti M...Noris M	23731345	2013
41	A functional variant in the CFI gene confers a high risk of age-related macular degeneration. ⁶	van de Ven JP...den Hollander AI	23685748	2013
42	Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion. ⁶	Alba-Dominguez M...Lopez-Trascasa M	22710145	2012
43	An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). ⁶	Fritsche LG...Skerka C	20843825	2010
44	The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. ⁵⁷	Dragon-Durey MA...Fremeaux-Bacchi V	19435718	2009
45	Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. ⁶	Servais A...Fakhouri F	17018561	2007
46	A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. ⁶	Hughes AE...Chakravarthy U	16998489	2006
47	Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. ⁶	Fremeaux-Bacchi V...Fridman WH	15173250	2004
48	Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. ⁵⁷	Caprioli J...International Registry of Recurrent and Familial HUS/TTP	14583443	2003
49	Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. ⁶	Richards A...Goodship TH	14566051	2003
50	Circulating granulocyte colony-stimulating factor, C-X-C, and C-C chemokines in children with Escherichia coli O157:H7 associated hemolytic uremic syndrome. ⁵⁷	Proulx F...Seidman EG	12438672	2002

Sources

Genes for Hemolytic Uremic Syndrome, Atypical 1

Genes related to Hemolytic Uremic Syndrome, Atypical 1 (14 elite genes):

(show top 50) (show all 66)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CFH	Complement Factor H	Protein Coding	1403.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9811382 10577907 10762557
2	CFHR1	Complement Factor H Related 1	Protein Coding	1017.32	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)	20301541
3	CFHR3	Complement Factor H Related 3	Protein Coding	1017.09	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)	20301541
4	CFHR5	Complement Factor H Related 5	Protein Coding	758.55	Pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵	20301541
5	CFHR4	Complement Factor H Related 4	Protein Coding	458.25	Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵	20301541
6	CD46	CD46 Molecule	Protein Coding	434.18	Pathogenic ⁶ Risk factor ⁶ DISEASES inferred ¹⁵	14615110 10528197
7	C3	Complement C3	Protein Coding	433.91	Pathogenic ⁶ Risk factor ⁶ DISEASES inferred ¹⁵	18796626
8	DGKE	Diacylglycerol Kinase Epsilon	Protein Coding	433.82	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵	24511134
9	CFB	Complement Factor B	Protein Coding	433.53	Pathogenic ⁶ Risk factor ⁶ DISEASES inferred ¹⁵	17182750 7452889 15661753
10	CFI	Complement Factor I	Protein Coding	433.46	Pathogenic/Likely pathogenic ⁶ Risk factor ⁶ DISEASES inferred ¹⁵	22710145 15173250
11	THBD	Thrombomodulin	Protein Coding	432.9	Pathogenic ⁶ Risk factor ⁶ DISEASES inferred ¹⁵
12	MMACHC	Metabolism Of Cobalamin Associated C	Protein Coding	406.77	Pathogenic ⁶ DISEASES inferred ¹⁵
13	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	404.11	Pathogenic ⁶ DISEASES inferred ¹⁵
14	BAAT	Bile Acid-CoA:Amino Acid N-Acyltransferase	Protein Coding	400	Pathogenic ⁶
15	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	33.67	Likely pathogenic ⁶ DISEASES inferred ¹⁵
16	C3AR1	Complement C3a Receptor 1	Protein Coding	31.8	Likely pathogenic ⁶ DISEASES inferred ¹⁵
17	SMARCAL1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1	Protein Coding	25	Likely pathogenic ⁶
18	CFHR2	Complement Factor H Related 2	Protein Coding	16.16	DISEASES inferred ¹⁵ ¹⁵
19	C5	Complement C5	Protein Coding	8	DISEASES inferred ¹⁵
20	CFP	Complement Factor Properdin	Protein Coding	7.86	DISEASES inferred ¹⁵
21	CD55	CD55 Molecule (Cromer Blood Group)	Protein Coding	7.82	DISEASES inferred ¹⁵
22	C4B	Complement C4B (Chido Blood Group)	Protein Coding	7.65	DISEASES inferred ¹⁵
23	C4A	Complement C4A (Rodgers Blood Group)	Protein Coding	7.63	DISEASES inferred ¹⁵
24	RAPGEF1	Rap Guanine Nucleotide Exchange Factor 1	Protein Coding	7.47	DISEASES inferred ¹⁵
25	C5AR1	Complement C5a Receptor 1	Protein Coding	7.45	DISEASES inferred ¹⁵
26	CD59	CD59 Molecule (CD59 Blood Group)	Protein Coding	7.31	DISEASES inferred ¹⁵
27	C1S	Complement C1s	Protein Coding	7.13	DISEASES inferred ¹⁵
28	MASP2	MBL Associated Serine Protease 2	Protein Coding	7.08	DISEASES inferred ¹⁵
29	C1R	Complement C1r	Protein Coding	6.96	DISEASES inferred ¹⁵
30	HP	Haptoglobin	Protein Coding	6.96	DISEASES inferred ¹⁵
31	MASP1	MBL Associated Serine Protease 1	Protein Coding	6.96	DISEASES inferred ¹⁵
32	CR1	Complement C3b/C4b Receptor 1 (Knops Blood Group)	Protein Coding	6.86	DISEASES inferred ¹⁵
33	MBL2	Mannose Binding Lectin 2	Protein Coding	6.82	DISEASES inferred ¹⁵
34	VWF	Von Willebrand Factor	Protein Coding	6.8	DISEASES inferred ¹⁵
35	MYBPH	Myosin Binding Protein H	Protein Coding	6.78	DISEASES inferred ¹⁵
36	RBMS2	RNA Binding Motif Single Stranded Interacting Protein 2	Protein Coding	6.73	DISEASES inferred ¹⁵
37	C5AR2	Complement Component 5a Receptor 2	Protein Coding	6.41	DISEASES inferred ¹⁵
38	VSIG4	V-Set And Immunoglobulin Domain Containing 4	Protein Coding	6.37	DISEASES inferred ¹⁵
39	SERPING1	Serpin Family G Member 1	Protein Coding	6.33	DISEASES inferred ¹⁵
40	PIGA	Phosphatidylinositol Glycan Anchor Biosynthesis Class A	Protein Coding	6.3	DISEASES inferred ¹⁵
41	AGBL3	AGBL Carboxypeptidase 3	Protein Coding	6.3	DISEASES inferred ¹⁵
42	AGBL4	AGBL Carboxypeptidase 4	Protein Coding	6.3	DISEASES inferred ¹⁵
43	FCN2	Ficolin 2	Protein Coding	6.28	DISEASES inferred ¹⁵
44	MVB12A	Multivesicular Body Subunit 12A	Protein Coding	6.22	DISEASES inferred ¹⁵
45	CFD	Complement Factor D	Protein Coding	6.09	DISEASES inferred ¹⁵
46	FCN3	Ficolin 3	Protein Coding	6.08	DISEASES inferred ¹⁵
47	AP2M1	Adaptor Related Protein Complex 2 Subunit Mu 1	Protein Coding	6.01	DISEASES inferred ¹⁵
48	RBMS1	RNA Binding Motif Single Stranded Interacting Protein 1	Protein Coding	5.97	DISEASES inferred ¹⁵
49	AGBL2	AGBL Carboxypeptidase 2	Protein Coding	5.91	DISEASES inferred ¹⁵
50	F3	Coagulation Factor III, Tissue Factor	Protein Coding	5.86	DISEASES inferred ¹⁵

Sources

Variations for Hemolytic Uremic Syndrome, Atypical 1

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:

⁶ (show top 50) (show all 541)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CFH	NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu)	SNV	Pathogenic, risk factor	16545	rs460897	GRCh37: 1:196716319-196716319 GRCh38: 1:196747189-196747189
2	CFH	NM_000186.3(CFH):c.2697T>A (p.Tyr899Ter)	SNV	Pathogenic, risk factor	16553	rs121913057	GRCh37: 1:196706705-196706705 GRCh38: 1:196737575-196737575
3	CFH	NM_000186.3(CFH):c.1318_1327del (p.Pro440fs)	Deletion	Pathogenic	599109	rs1558162157	GRCh37: 1:196659351-196659360 GRCh38: 1:196690221-196690230
4	CFH	NM_000186.3(CFH):c.2950T>C (p.Cys984Arg)	SNV	Pathogenic	265982	rs886039869	GRCh37: 1:196709916-196709916 GRCh38: 1:196740786-196740786
5	CFH	NM_000186.3(CFH):c.2397del (p.Glu800fs)	Deletion	Pathogenic	429034	rs1131690796	GRCh37: 1:196697636-196697636 GRCh38: 1:196728506-196728506
6	CFH	NM_000186.3(CFH):c.710_711del (p.Lys236_Cys237insTer)	Deletion	Pathogenic	438685	rs1553273733	GRCh37: 1:196648842-196648843 GRCh38: 1:196679712-196679713
7	overlap with 3 genes	NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del	Deletion	Pathogenic	21089		GRCh37: 1:196712876-196797546 GRCh38: 1:196743746-196828416
8	BAAT	NM_001701.4(BAAT):c.858C>G (p.Ser286=)	SNV	Pathogenic	21300	rs80356746	GRCh37: 9:104125109-104125109 GRCh38: 9:101362827-101362827
9	BAAT	NM_001701.4(BAAT):c.967A>G (p.Ile323Val)	SNV	Pathogenic	21301	rs80356747	GRCh37: 9:104125000-104125000 GRCh38: 9:101362718-101362718
10	CFH	NM_000186.3(CFH):c.1126C>T (p.Gln376Ter)	SNV	Pathogenic	635491	rs1573026975	GRCh37: 1:196658711-196658711 GRCh38: 1:196689581-196689581
11	CFH	NM_000186.4(CFH):c.3134-2A>G	SNV	Pathogenic	829824	rs1300996807	GRCh37: 1:196712580-196712580 GRCh38: 1:196743450-196743450
12	CFH	NM_000186.4(CFH):c.2535dup (p.Gln846fs)	Duplication	Pathogenic	829949	rs1573076111	GRCh37: 1:196706073-196706074 GRCh38: 1:196736943-196736944
13	CD46	NM_172351.3(CD46):c.404del (p.Gly135fs)	Deletion	Pathogenic	635500	rs1571588257	GRCh37: 1:207932997-207932997 GRCh38: 1:207759652-207759652
14	CD46	NM_172351.3(CD46):c.776del (p.Gly259fs)	Deletion	Pathogenic	265981	rs886039868	GRCh37: 1:207940458-207940458 GRCh38: 1:207767113-207767113
15	CD46	NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer)	Deletion	Pathogenic	369948	rs1057516191	GRCh37: 1:207934659-207934660 GRCh38: 1:207761314-207761315
16	CD46	NM_172351.3(CD46):c.604C>T (p.Leu202Phe)	SNV	Pathogenic	599060	rs750324925	GRCh37: 1:207934722-207934722 GRCh38: 1:207761377-207761377
17	C3	NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)	Deletion	Pathogenic	992385		GRCh37: 19:6686207-6686208 GRCh38: 19:6686196-6686197
18	CD46	NM_172351.3(CD46):c.828G>A (p.Trp276Ter)	SNV	Pathogenic	829863	rs1571617647	GRCh37: 1:207940512-207940512 GRCh38: 1:207767167-207767167
19	CD46	NM_172351.3(CD46):c.714_715del (p.Gln238fs)	Deletion	Pathogenic	829903	rs1571616755	GRCh37: 1:207940397-207940398 GRCh38: 1:207767052-207767053
20	CFB	NM_001710.6(CFB):c.1374G>A (p.Met458Ile)	SNV	Pathogenic	829990	rs200837114	GRCh37: 6:31917300-31917300 GRCh38: 6:31949523-31949523
21	DGKE	NM_003647.3(DGKE):c.301A>T (p.Lys101Ter)	SNV	Pathogenic	446215	rs777787526	GRCh37: 17:54912457-54912457 GRCh38: 17:56835096-56835096
22	DGKE	NM_003647.3(DGKE):c.447del (p.Lys150fs)	Deletion	Pathogenic	812509		GRCh37: 17:54912601-54912601 GRCh38: 17:56835240-56835240
23	THBD	NM_000361.2(THBD):c.1483C>T (p.Pro495Ser)	SNV	Pathogenic	12720	rs1800578	GRCh37: 20:23028659-23028659 GRCh38: 20:23048022-23048022
24	CFH	NM_000186.4(CFH):c.3493+2T>C	SNV	Pathogenic	988140		GRCh37: 1:196715131-196715131 GRCh38: 1:196746001-196746001
25	CFH	NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys)	SNV	Pathogenic	16558	rs121913059	GRCh37: 1:196716375-196716375 GRCh38: 1:196747245-196747245
26	CFH	NM_000186.4(CFH):c.1574G>A (p.Trp525Ter)	SNV	Pathogenic	988145		GRCh37: 1:196684777-196684777 GRCh38: 1:196715647-196715647
27	CFH	NM_000186.3(CFH):c.3643C>G (p.Arg1215Gly)	SNV	Pathogenic	16542	rs121913051	GRCh37: 1:196716390-196716390 GRCh38: 1:196747260-196747260
28	CFHR5	NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup	Duplication	Pathogenic	988223		GRCh37: GRCh38:
29	CFH	NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter)	SNV	Pathogenic	988221		GRCh37: 1:196715034-196715034 GRCh38: 1:196745904-196745904
30	CD46	NM_172351.3(CD46):c.476-1G>A	SNV	Pathogenic	988245		GRCh37: 1:207934593-207934593 GRCh38: 1:207761248-207761248
31	CFH	NM_000186.3(CFH):c.3590T>C (p.Val1197Ala)	SNV	Pathogenic	21090	rs460184	GRCh37: 1:196716337-196716337 GRCh38: 1:196747207-196747207
32	C3	NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)	SNV	Pathogenic	988243		GRCh37: 19:6690659-6690659 GRCh38: 19:6690648-6690648
33	C3	NM_000064.4(C3):c.193A>C (p.Lys65Gln)	SNV	Pathogenic	381739	rs539992721	GRCh37: 19:6719296-6719296 GRCh38: 19:6719285-6719285
34	CD46	NM_172351.3(CD46):c.286+2T>G	SNV	Pathogenic	505831	rs769742294	GRCh37: 1:207930549-207930549 GRCh38: 1:207757204-207757204
35	COL4A5	NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	SNV	Pathogenic	24543	rs104886189	GRCh37: X:107863584-107863584 GRCh38: X:108620354-108620354
36	MMACHC	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	Duplication	Pathogenic	1421	rs398124292	GRCh37: 1:45973216-45973217 GRCh38: 1:45507544-45507545
37	CFI	NM_000204.4(CFI):c.559C>T (p.Arg187Ter)	SNV	Pathogenic/Likely pathogenic	631934	rs368615806	GRCh37: 4:110682772-110682772 GRCh38: 4:109761616-109761616
38	CD46	NM_172351.3(CD46):c.286+2T>G	SNV	Likely pathogenic	505831	rs769742294	GRCh37: 1:207930549-207930549 GRCh38: 1:207757204-207757204
39	CFI	NM_000204.4(CFI):c.355G>A (p.Gly119Arg)	SNV	risk factor	66014	rs141853578	GRCh37: 4:110685820-110685820 GRCh38: 4:109764664-109764664
40	CD46	NM_172351.3(CD46):c.565T>G (p.Tyr189Asp)	SNV	Likely pathogenic	988106		GRCh37: 1:207934683-207934683 GRCh38: 1:207761338-207761338
41	SMARCAL1	NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs)	Deletion	Likely pathogenic	988239		GRCh37: 2:217332716-217332716 GRCh38: 2:216467993-216467993
42	CFI	NM_000204.5(CFI):c.1006C>T (p.Arg336Ter)	SNV	Likely pathogenic	988219		GRCh37: 4:110670693-110670693 GRCh38: 4:109749537-109749537
43	DGKE	NM_003647.3(DGKE):c.1A>T (p.Met1Leu)	SNV	Likely pathogenic	988188		GRCh37: 17:54912157-54912157 GRCh38: 17:56834796-56834796
44	ADAMTS13	NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu)	SNV	Likely pathogenic	365546	rs36220240	GRCh37: 9:136302010-136302010 GRCh38: 9:133436890-133436890
45	CFH	NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser)	SNV	Likely pathogenic	988141		GRCh37: 1:196716293-196716293 GRCh38: 1:196747163-196747163
46	THBD	NM_000361.2(THBD):c.127G>A (p.Ala43Thr)	SNV	risk factor	12718	rs1800576	GRCh37: 20:23030015-23030015 GRCh38: 20:23049378-23049378
47	DGKE	NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)	SNV	Likely pathogenic	135641	rs138924661	GRCh37: 17:54926134-54926134 GRCh38: 17:56848773-56848773
48	DGKE	NM_003647.3(DGKE):c.942C>G (p.Asn314Lys)	SNV	Likely pathogenic	812708		GRCh37: 17:54926110-54926110 GRCh38: 17:56848749-56848749
49	CFH	NM_000186.3(CFH):c.3643C>G (p.Arg1215Gly)	SNV	risk factor	16542	rs121913051	GRCh37: 1:196716390-196716390 GRCh38: 1:196747260-196747260
50	DGKE	NM_003647.3(DGKE):c.889-1G>A	SNV	Likely pathogenic	135640	rs312262696	GRCh37: 17:54926056-54926056 GRCh38: 17:56848695-56848695

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:

⁷² (show all 31)

#	Symbol	AA change	Variation ID	SNP ID
1	CFH	p.Leu1189Arg	VAR_019407	rs121913055
2	CFH	p.Ser1191Leu	VAR_019408	rs460897
3	CFH	p.Arg78Gly	VAR_025864
4	CFH	p.Cys630Trp	VAR_025865
5	CFH	p.Glu850Lys	VAR_025866	rs762443267
6	CFH	p.Gln950His	VAR_025867	rs149474608
7	CFH	p.Tyr951His	VAR_025868	rs777049051
8	CFH	p.Thr956Met	VAR_025869	rs145975787
9	CFH	p.Trp978Cys	VAR_025870
10	CFH	p.Tyr1021Phe	VAR_025871
11	CFH	p.Cys1043Arg	VAR_025872
12	CFH	p.Val1134Gly	VAR_025875
13	CFH	p.Tyr1142Asp	VAR_025876
14	CFH	p.Trp1157Arg	VAR_025877
15	CFH	p.Cys1163Trp	VAR_025878
16	CFH	p.Trp1183Leu	VAR_025879
17	CFH	p.Trp1183Arg	VAR_025880
18	CFH	p.Gly1194Asp	VAR_025882	rs761877050
19	CFH	p.Val1197Ala	VAR_025883	rs460184
20	CFH	p.Glu1198Ala	VAR_025884
21	CFH	p.Arg1215Gly	VAR_025886	rs121913051
22	CFH	p.Pro1226Ser	VAR_025888
23	CFH	p.Gln400Lys	VAR_031980	rs201671665
24	CFH	p.Cys673Tyr	VAR_031983	rs139181579
25	CFH	p.His893Arg	VAR_031984
26	CFH	p.Cys915Ser	VAR_031985
27	CFH	p.Phe1199Ser	VAR_031986
28	CFH	p.Cys325Tyr	VAR_063648
29	CFH	p.Val609Ile	VAR_063649	rs148165372
30	CFH	p.Ile1169Leu	VAR_063650
31	CFH	p.Trp1183Cys	VAR_063651

Copy number variations for Hemolytic Uremic Syndrome, Atypical 1 from CNVD:

⁷

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	26280	1	198700000	214500000	Deletion	CFHR1	Atypical hemolytic uremic syndrome
2	26281	1	198700000	214500000	Deletion	CFHR3	Atypical hemolytic uremic syndrome
3	26282	1	198700000	214500000	Deletion	CFHR4	Atypical hemolytic uremic syndrome

Sources

Expression for Hemolytic Uremic Syndrome, Atypical 1

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 1.

Sources

Pathways for Hemolytic Uremic Syndrome, Atypical 1

Pathways related to Hemolytic Uremic Syndrome, Atypical 1 according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Complement and coagulation cascades	hsa04610

Pathways related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Creation of C4 and C2 activators ⁶⁵ Show member pathways Alternative complement activation ⁶⁵ Classical antibody-mediated complement activation ⁶⁵ Complement cascade ⁶⁵ Ficolins bind to repetitive carbohydrate structures on the target cell surface ⁶⁵ Initial triggering of complement ⁶⁵ Lectin pathway of complement activation ⁶⁵ Terminal pathway of complement ⁶⁵	11.92	CFI CFHR3 CFH CFB CD46 C5
2	Immune response Lectin induced complement pathway ²³ Show member pathways Activation of C3 and C5 ⁶⁵ Complement Activation Pathways ⁶⁶ Immune response Alternative complement pathway ²³ Immune response Classical complement pathway ²³ Regulation of Complement cascade ⁶⁵	11.81	CFP CFI CFHR3 CFH CFB CD46
3	Staphylococcus aureus infection ³⁶	11.72	CFI CFH CFB C5 C3AR1 C3
4	Complement and coagulation cascades ³⁶ ¹	11.6	THBD CFI CFHR5 CFHR4 CFHR3 CFHR2
5	Complement Pathway ⁶³ Show member pathways Alternative Complement Pathway ⁶³ Classical Complement Pathway ⁶³ Complement Activation ¹ Lectin Induced Complement Pathway ⁶³	11.53	CFP CFB C5 C3

Sources

GO Terms for Hemolytic Uremic Syndrome, Atypical 1

Cellular components related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.7	THBD COL4A5 CFP CFI CFHR3 CFHR1
2	endoplasmic reticulum lumen	GO:0005788	9.56	COL4A5 CFP C3 ADAMTS13
3	blood microparticle	GO:0072562	9.55	CFHR3 CFHR1 CFH CFB C3
4	extracellular region	GO:0005576	9.44	COL4A5 CFP CFI CFHR5 CFHR4 CFHR3

Biological processes related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	immune system process	GO:0002376	9.91	CFP CFI CFH CFB CD46 C5
2	innate immune response	GO:0045087	9.87	CFP CFI CFH CFB CD46 C5
3	complement activation, classical pathway	GO:0006958	9.73	CFI CD46 C5 C3
4	negative regulation of protein binding	GO:0032091	9.63	CFHR5 CFHR2 CFHR1
5	complement activation	GO:0006956	9.63	CFP CFHR1 CFH CFB C5 C3
6	positive regulation of vascular endothelial growth factor production	GO:0010575	9.58	C5 C3AR1 C3
7	cytolysis by host of symbiont cells	GO:0051838	9.43	CFHR5 CFHR2 CFHR1
8	complement activation, alternative pathway	GO:0006957	9.43	CFP CFHR5 CFH CFB C5 C3
9	regulation of complement activation	GO:0030449	9.4	CFP CFI CFHR5 CFHR4 CFHR2 CFHR1

Sources

Sources for Hemolytic Uremic Syndrome, Atypical 1

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⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Hemolytic Uremic Syndrome, Atypical 1 (AHUS1)

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 1

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 1:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hemolytic Uremic Syndrome, Atypical 1

Related Diseases for Hemolytic Uremic Syndrome, Atypical 1

Diseases in the Hemolytic Uremic Syndrome, Atypical 1 family:

Diseases related to Hemolytic Uremic Syndrome, Atypical 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hemolytic Uremic Syndrome, Atypical 1:

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 1

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 1

Drugs for Hemolytic Uremic Syndrome, Atypical 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 1

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 1:

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 1:

Publications for Hemolytic Uremic Syndrome, Atypical 1

Articles related to Hemolytic Uremic Syndrome, Atypical 1:

Genes for Hemolytic Uremic Syndrome, Atypical 1

Genes related to Hemolytic Uremic Syndrome, Atypical 1 (14 elite genes):

Variations for Hemolytic Uremic Syndrome, Atypical 1

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:

Copy number variations for Hemolytic Uremic Syndrome, Atypical 1 from CNVD:

Expression for Hemolytic Uremic Syndrome, Atypical 1

Pathways for Hemolytic Uremic Syndrome, Atypical 1

Pathways related to Hemolytic Uremic Syndrome, Atypical 1 according to KEGG:

Pathways related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

GO Terms for Hemolytic Uremic Syndrome, Atypical 1

Cellular components related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

Biological processes related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

Sources for Hemolytic Uremic Syndrome, Atypical 1