Hemolytic Uremic Syndrome, Atypical 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 3

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 3:

Name: Hemolytic Uremic Syndrome, Atypical 3 ⁵⁷

Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 3 ⁵⁷ ¹³

Atypical Hemolytic-Uremic Syndrome 3 ²⁹ ⁶

Ahus3 ⁵⁷ ⁷⁵

Hemolytic-Uremic Syndrome Without Diarrhea with I Factor Anomaly ⁵⁹

Atypical Hemolytic-Uremic Syndrome with I Factor Anomaly ⁵⁹

Atypical Hemolytic Uremic Syndrome with I Factor Anomaly ⁷⁵

Hemolytic-Uremic Syndrome, Atypical, Type 3 ⁴⁰

Hemolytic Uremic Syndrome Atypical 3 ⁷⁵

Atypical Hus with I Factor Anomaly ⁵⁹

D-Hus with I Factor Anomaly ⁵⁹

Ahus, Susceptibility to, 3 ⁵⁷

Ahus with I Factor Anomaly ⁵⁹

Ahus 3 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
recurrence is possible
variable age of onset (childhood to young adulthood)

HPO:

³²

hemolytic uremic syndrome, atypical 3:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare renal diseases

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 612923

Orphanet ⁵⁹ ORPHA93580

ICD10 via Orphanet ³⁴ D58.8

MedGen ⁴² C2752039 CN043568

MeSH ⁴⁴ D006463

SNOMED-CT via HPO ⁶⁹ 263681008 29738008 34436003 more

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Summaries for Hemolytic Uremic Syndrome, Atypical 3

UniProtKB/Swiss-Prot : ⁷⁵ Hemolytic uremic syndrome atypical 3: 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.

MalaCards based summary : Hemolytic Uremic Syndrome, Atypical 3, is also known as hemolytic uremic syndrome, atypical, susceptibility to, 3. An important gene associated with Hemolytic Uremic Syndrome, Atypical 3 is CFI (Complement Factor I). Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

Description from OMIM: 612923

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Related Diseases for Hemolytic Uremic Syndrome, Atypical 3

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

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Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 3

Symptoms via clinical synopsis from OMIM:

⁵⁷

Genitourinary Kidneys:
proteinuria
hematuria
acute renal failure
anuria

Laboratory Abnormalities:
increased blood urea nitrogen (bun)
increased creatinine
decreased or normal serum c3
decreased or normal serum factor i
decreased or normal serum factor b

Cardiovascular Vascular:
hypertension (variable)

Hematology:
thrombocytopenia
microangiopathic hemolytic anemia
thrombotic microangiopathy
decreased hemoglobin
fragmented erythrocytes

Immunology:
defective complement regulation

Clinical features from OMIM:

612923

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 3:

³² (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	hypertension ³²	frequent (33%)	HP:0000822
2	proteinuria ³²		HP:0000093
3	thrombocytopenia ³²		HP:0001873
4	hematuria ³²		HP:0000790
5	elevated serum creatinine ³²		HP:0003259
6	acute kidney injury ³²		HP:0001919
7	microangiopathic hemolytic anemia ³²		HP:0001937
8	increased blood urea nitrogen ³²		HP:0003138
9	anuria ³²		HP:0100519
10	hemolytic-uremic syndrome ³²		HP:0005575

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Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 3

Search Clinical Trials , NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 3

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Genetic Tests for Hemolytic Uremic Syndrome, Atypical 3

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 3:

#	Genetic test	Affiliating Genes
1	Atypical Hemolytic-Uremic Syndrome 3 ²⁹	CFI

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Anatomical Context for Hemolytic Uremic Syndrome, Atypical 3

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 3:

⁴¹

Kidney

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Publications for Hemolytic Uremic Syndrome, Atypical 3

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Genes for Hemolytic Uremic Syndrome, Atypical 3

Genes related to Hemolytic Uremic Syndrome, Atypical 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CFI	Complement Factor I	Protein Coding	1354.22	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	15173250 20301541 19846853 (more) 19821824 16621965 23685748 20513133 20203157

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Variations for Hemolytic Uremic Syndrome, Atypical 3

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 3:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	CFI	p.Ile340Thr	VAR_030343	rs769419740
2	CFI	p.Asp524Val	VAR_030344	rs121964914
3	CFI	p.Pro64Leu	VAR_063665	rs773187287
4	CFI	p.Gly119Arg	VAR_063666	rs141853578
5	CFI	p.His183Arg	VAR_063667	rs75612300
6	CFI	p.Gly287Arg	VAR_063668	rs182078921
7	CFI	p.Arg317Trp	VAR_063669	rs121964917
8	CFI	p.Ile416Leu	VAR_063670	rs61733901
9	CFI	p.Asp519Asn	VAR_063671	rs121964918
10	CFI	p.Lys522Thr	VAR_063672

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 3:

⁶

(show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CFI	NM_000204.4(CFI): c.1637G> A (p.Trp546Ter)	single nucleotide variant	risk factor	rs121964915	GRCh38	Chromosome 4, 109741008: 109741008
2	CFI	NM_000204.4(CFI): c.1420C> T (p.Arg474Ter)	single nucleotide variant	risk factor	rs121964913	GRCh37	Chromosome 4, 110667387: 110667387
3	CFI	NM_000204.4(CFI): c.1420C> T (p.Arg474Ter)	single nucleotide variant	risk factor	rs121964913	GRCh38	Chromosome 4, 109746231: 109746231
4	CFI	NM_000204.4(CFI): c.1571A> T (p.Asp524Val)	single nucleotide variant	risk factor	rs121964914	GRCh37	Chromosome 4, 110662230: 110662230
5	CFI	NM_000204.4(CFI): c.1571A> T (p.Asp524Val)	single nucleotide variant	risk factor	rs121964914	GRCh38	Chromosome 4, 109741074: 109741074
6	CFI	NM_000204.4(CFI): c.1637G> A (p.Trp546Ter)	single nucleotide variant	risk factor	rs121964915	GRCh37	Chromosome 4, 110662164: 110662164
7	CFI	NM_000204.4(CFI): c.949C> T (p.Arg317Trp)	single nucleotide variant	risk factor	rs121964917	GRCh37	Chromosome 4, 110670750: 110670750
8	CFI	NM_000204.4(CFI): c.949C> T (p.Arg317Trp)	single nucleotide variant	risk factor	rs121964917	GRCh38	Chromosome 4, 109749594: 109749594
9	CFI	NM_000204.4(CFI): c.1555G> A (p.Asp519Asn)	single nucleotide variant	risk factor	rs121964918	GRCh37	Chromosome 4, 110662246: 110662246
10	CFI	NM_000204.4(CFI): c.1555G> A (p.Asp519Asn)	single nucleotide variant	risk factor	rs121964918	GRCh38	Chromosome 4, 109741090: 109741090
11	CFI	NM_000204.4(CFI): c.1709G> C (p.Ser570Thr)	single nucleotide variant	Uncertain significance	rs200973120	GRCh37	Chromosome 4, 110662092: 110662092
12	CFI	NM_000204.4(CFI): c.1709G> C (p.Ser570Thr)	single nucleotide variant	Uncertain significance	rs200973120	GRCh38	Chromosome 4, 109740936: 109740936
13	CFI	NM_000204.4(CFI): c.310G> A (p.Gly104Arg)	single nucleotide variant	Likely pathogenic	rs200419722	GRCh38	Chromosome 4, 109766572: 109766572
14	CFI	NM_000204.4(CFI): c.310G> A (p.Gly104Arg)	single nucleotide variant	Likely pathogenic	rs200419722	GRCh37	Chromosome 4, 110687728: 110687728

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Expression for Hemolytic Uremic Syndrome, Atypical 3

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 3.

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Pathways for Hemolytic Uremic Syndrome, Atypical 3

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GO Terms for Hemolytic Uremic Syndrome, Atypical 3

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Sources for Hemolytic Uremic Syndrome, Atypical 3

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