AHUS6
MCID: HML036
MIFTS: 25

Hemolytic Uremic Syndrome, Atypical 6 (AHUS6)

Categories: Blood diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 6

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 6:

Name: Hemolytic Uremic Syndrome, Atypical 6 56
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 6 56 13
Atypical Hemolytic-Uremic Syndrome 6 29 6
Ahus6 56 73
Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly 73
Hemolytic-Uremic Syndrome, Atypical, Type 6 39
Hemolytic Uremic Syndrome Atypical 6 73
Ahus, Susceptibility to, 6 56
Ahus 6 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
hemolytic uremic syndrome, atypical 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 6

UniProtKB/Swiss-Prot : 73 Hemolytic uremic syndrome atypical 6: 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 6, is also known as hemolytic uremic syndrome, atypical, susceptibility to, 6. An important gene associated with Hemolytic Uremic Syndrome, Atypical 6 is THBD (Thrombomodulin). Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

More information from OMIM: 612926 PS235400

Related Diseases for Hemolytic Uremic Syndrome, Atypical 6

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 6

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 6:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 frequent (33%) HP:0000822
2 proteinuria 31 HP:0000093
3 hematuria 31 HP:0000790
4 thrombocytopenia 31 HP:0001873
5 acute kidney injury 31 HP:0001919
6 elevated serum creatinine 31 HP:0003259
7 microangiopathic hemolytic anemia 31 HP:0001937
8 increased blood urea nitrogen 31 HP:0003138
9 anuria 31 HP:0100519
10 hemolytic-uremic syndrome 31 HP:0005575

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
proteinuria
hematuria
anuria
acute renal failure

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

Cardiovascular Vascular:
hypertension (variable)

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

Immunology:
defective complement regulation

Clinical features from OMIM:

612926

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 6

Search Clinical Trials , NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 6

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 6

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 6:

# Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome 6 29 THBD

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 6

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 6:

40
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 6

Articles related to Hemolytic Uremic Syndrome, Atypical 6:

# Title Authors PMID Year
1
Thrombomodulin mutations in atypical hemolytic-uremic syndrome. 6 56
19625716 2009
2
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 6
19821824 2010
3
Atypical hemolytic-uremic syndrome. 6
19846853 2009
4
Genetic Atypical Hemolytic-Uremic Syndrome 6
20301541 2007

Variations for Hemolytic Uremic Syndrome, Atypical 6

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 6:

6 (show top 50) (show all 82) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 THBD NM_000361.2(THBD):c.158A>G (p.Asp53Gly)SNV risk factor 12719 rs121918667 20:23029984-23029984 20:23049347-23049347
2 THBD NM_000361.3(THBD):c.282C>G (p.Pro94=)SNV Conflicting interpretations of pathogenicity 809234 20:23029860-23029860 20:23049223-23049223
3 THBD NM_000361.2(THBD):c.1502C>T (p.Pro501Leu)SNV Conflicting interpretations of pathogenicity 337882 rs1800579 20:23028640-23028640 20:23048003-23048003
4 THBD NM_000361.2(THBD):c.127G>A (p.Ala43Thr)SNV Conflicting interpretations of pathogenicity 12718 rs1800576 20:23030015-23030015 20:23049378-23049378
5 THBD NM_000361.2(THBD):c.*663C>TSNV Uncertain significance 337866 rs886056543 20:23027751-23027751 20:23047114-23047114
6 THBD NM_000361.2(THBD):c.*1315C>TSNV Uncertain significance 337858 rs886056541 20:23027099-23027099 20:23046462-23046462
7 THBD NM_000361.2(THBD):c.1528G>A (p.Val510Met)SNV Uncertain significance 337881 rs555537779 20:23028614-23028614 20:23047977-23047977
8 THBD NM_000361.2(THBD):c.-38G>ASNV Uncertain significance 337896 rs750724405 20:23030179-23030179 20:23049542-23049542
9 THBD NM_000361.2(THBD):c.*1689C>TSNV Uncertain significance 337855 rs886056540 20:23026725-23026725 20:23046088-23046088
10 THBD NM_000361.2(THBD):c.*1153A>GSNV Uncertain significance 337861 rs886056542 20:23027261-23027261 20:23046624-23046624
11 THBD NM_000361.2(THBD):c.675C>T (p.Thr225=)SNV Uncertain significance 337891 rs775568682 20:23029467-23029467 20:23048830-23048830
12 THBD NM_000361.2(THBD):c.656G>T (p.Gly219Val)SNV Uncertain significance 337892 rs886056548 20:23029486-23029486 20:23048849-23048849
13 THBD NM_000361.2(THBD):c.331G>A (p.Val111Ile)SNV Uncertain significance 337893 rs886056549 20:23029811-23029811 20:23049174-23049174
14 THBD NM_000361.2(THBD):c.*1869G>ASNV Uncertain significance 337853 rs886056539 20:23026545-23026545 20:23045908-23045908
15 THBD NM_000361.2(THBD):c.*562G>CSNV Uncertain significance 337867 rs886056544 20:23027852-23027852 20:23047215-23047215
16 THBD NM_000361.2(THBD):c.*338C>TSNV Uncertain significance 337872 rs536637715 20:23028076-23028076 20:23047439-23047439
17 THBD NM_000361.2(THBD):c.747C>G (p.Asn249Lys)SNV Uncertain significance 337889 rs886056546 20:23029395-23029395 20:23048758-23048758
18 THBD NM_000361.2(THBD):c.716C>T (p.Ala239Val)SNV Uncertain significance 337890 rs886056547 20:23029426-23029426 20:23048789-23048789
19 THBD NM_000361.3(THBD):c.*1845G>TSNV Uncertain significance 898179 20:23026569-23026569 20:23045932-23045932
20 THBD NM_000361.3(THBD):c.*1519G>CSNV Uncertain significance 899280 20:23026895-23026895 20:23046258-23046258
21 THBD NM_000361.3(THBD):c.*1505C>GSNV Uncertain significance 899281 20:23026909-23026909 20:23046272-23046272
22 THBD NM_000361.3(THBD):c.*1104A>CSNV Uncertain significance 895191 20:23027310-23027310 20:23046673-23046673
23 THBD NM_000361.3(THBD):c.*1011C>ASNV Uncertain significance 895192 20:23027403-23027403 20:23046766-23046766
24 THBD NM_000361.3(THBD):c.*775G>CSNV Uncertain significance 895193 20:23027639-23027639 20:23047002-23047002
25 THBD NM_000361.3(THBD):c.*509C>TSNV Uncertain significance 896606 20:23027905-23027905 20:23047268-23047268
26 THBD NM_000361.3(THBD):c.*230T>GSNV Uncertain significance 898232 20:23028184-23028184 20:23047547-23047547
27 THBD NM_000361.3(THBD):c.*169G>ASNV Uncertain significance 898233 20:23028245-23028245 20:23047608-23047608
28 THBD NM_000361.3(THBD):c.*27C>TSNV Uncertain significance 899342 20:23028387-23028387 20:23047750-23047750
29 THBD NM_000361.3(THBD):c.*1G>TSNV Uncertain significance 899343 20:23028413-23028413 20:23047776-23047776
30 THBD NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)SNV Uncertain significance 899344 20:23028442-23028442 20:23047805-23047805
31 THBD NM_000361.3(THBD):c.1674C>G (p.Ser558=)SNV Uncertain significance 899345 20:23028468-23028468 20:23047831-23047831
32 THBD NM_000361.3(THBD):c.1577T>C (p.Leu526Pro)SNV Uncertain significance 899346 20:23028565-23028565 20:23047928-23047928
33 THBD NM_000361.3(THBD):c.1205A>G (p.His402Arg)SNV Uncertain significance 895250 20:23028937-23028937 20:23048300-23048300
34 THBD NM_000361.2(THBD):c.1712C>T (p.Thr571Met)SNV Uncertain significance 438664 rs1166732867 20:23028430-23028430 20:23047793-23047793
35 THBD NM_000361.2(THBD):c.683C>T (p.Pro228Leu)SNV Uncertain significance 626184 rs375011249 20:23029459-23029459 20:23048822-23048822
36 THBD NM_000361.2(THBD):c.*1469C>TSNV Uncertain significance 337857 rs3176124 20:23026945-23026945 20:23046308-23046308
37 THBD NM_000361.3(THBD):c.897C>T (p.Asn299=)SNV Uncertain significance 896685 20:23029245-23029245 20:23048608-23048608
38 THBD NM_000361.3(THBD):c.885C>T (p.Phe295=)SNV Uncertain significance 896686 20:23029257-23029257 20:23048620-23048620
39 THBD NM_000361.3(THBD):c.302G>C (p.Arg101Pro)SNV Uncertain significance 897138 20:23029840-23029840 20:23049203-23049203
40 THBD NM_000361.3(THBD):c.72G>A (p.Gln24=)SNV Uncertain significance 897139 20:23030070-23030070 20:23049433-23049433
41 THBD NM_000361.2(THBD):c.1483C>T (p.Pro495Ser)SNV Likely benign 12720 rs1800578 20:23028659-23028659 20:23048022-23048022
42 THBD NM_000361.2(THBD):c.-12C>TSNV Likely benign 337895 rs370548660 20:23030153-23030153 20:23049516-23049516
43 THBD NM_000361.2(THBD):c.1208G>A (p.Arg403Lys)SNV Likely benign 337884 rs41400249 20:23028934-23028934 20:23048297-23048297
44 THBD NM_000361.2(THBD):c.1083G>A (p.Glu361=)SNV Likely benign 337886 rs370377519 20:23029059-23029059 20:23048422-23048422
45 THBD NM_000361.2(THBD):c.*325T>CSNV Likely benign 337873 rs186669520 20:23028089-23028089 20:23047452-23047452
46 THBD NM_000361.2(THBD):c.*158G>ASNV Likely benign 337876 rs3176121 20:23028256-23028256 20:23047619-23047619
47 THBD NM_000361.2(THBD):c.920C>T (p.Ser307Leu)SNV Likely benign 337888 rs372556297 20:23029222-23029222 20:23048585-23048585
48 THBD NM_000361.2(THBD):c.1029A>G (p.Thr343=)SNV Benign/Likely benign 337887 rs79349426 20:23029113-23029113 20:23048476-23048476
49 THBD NM_000361.2(THBD):c.*47C>TSNV Benign 337878 rs551028498 20:23028367-23028367 20:23047730-23047730
50 THBD NM_000361.2(THBD):c.*277G>ASNV Benign 337875 rs3176134 20:23028137-23028137 20:23047500-23047500

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 6:

73
# Symbol AA change Variation ID SNP ID
1 THBD p.Ala43Thr VAR_011368 rs1800576
2 THBD p.Asp486Tyr VAR_011371 rs41348347
3 THBD p.Pro495Ser VAR_011372 rs1800578
4 THBD p.Pro501Leu VAR_011373 rs1800579
5 THBD p.Asp53Gly VAR_063223 rs121918667
6 THBD p.Val81Leu VAR_063224 rs772288987
7 THBD p.Asp34Glu VAR_063673
8 THBD p.Ala236Gly VAR_063674 rs758686992

Expression for Hemolytic Uremic Syndrome, Atypical 6

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 6.

Pathways for Hemolytic Uremic Syndrome, Atypical 6

GO Terms for Hemolytic Uremic Syndrome, Atypical 6

Sources for Hemolytic Uremic Syndrome, Atypical 6

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