ORPHA:544472

Atypical hemolytic uremic syndrome with complement gene abnormality

Synonyms: Atypical HUS with complement gene abnormality · aHUS with complement gene abnormality

Type: Etiological subtype
Group: Subtype of disorder
Age of onset: All ages
Status: active

This disease is described under Atypical hemolytic uremic syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Atypical hemolytic uremic syndrome with complement gene abnormality	Atypical HUS with complement gene abnormality · aHUS with complement gene abnormality
fr	Syndrome hémolytique et urémique atypique lié à une anomalie d'un gène du complément	SHU atypique lié à une anomalie d'un gène du complément · aHUS lié à une anomalie d'un gène du complément
de	Atypisches hämolytisch-urämisches Syndrom mit Komplement-Gen-Anomalie	aHUS bei Komplement-Gen-Anomalie
es	Síndrome hemolítico urémico atípico con anomalías en los genes del complemento	SHUa con anomalías en los genes del complemento · SUH atípico con anomalías en los genes del complemento
it	Sindrome emolitico-uremica atipica con mutazione in un gene del complemento	HUS atipica da anomalia di un gene del complemento · aHUS da anomalia di un gene del complemento
nl	Atypisch hemolytisch-uremisch syndroom met afwijking van gen van complementsysteem	Atypisch HUS met afwijking van gen van complementsysteem · aHUS met afwijking van gen van complementsysteem
pt	Síndrome hemolítico-urémico atípico com anomalias dos genes do complemento	HUS atípico com anomalias genéticas do complemento
pl	Atypowy zespół mocznicowy hemolityczny z defektem genu dopełniacza	= en
cs	Atypický hemolyticko-uremický syndrom s abnormalitou genu komplementu	aHUS s abnormalitou genu komplementu
uk	Атиповий гемолітико-уремічний синдром з аномалією гена комплементу	aHUS з аномалією гена комплементу · Атиповий HUS з аномалією гена комплементу
zh	补体基因异常的非典型溶血性尿毒症综合征	= en
tr	Kompleman gen anormalliği ile seyreden atipik hemolitik üremik sendrom	Kompleman gen anormalliği ile seyreden aHUS

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	235400	BTNT		validated
OMIM	609814	BTNT		validated
OMIM	612922	BTNT		validated
OMIM	612923	BTNT		validated
OMIM	612924	BTNT		validated
OMIM	612925	BTNT		validated
OMIM	612926	BTNT		validated
OMIM	615008	BTNT		validated
ICD-10	D58.8	NTBT	attributed	validated
MONDO	0035290	E		validated
UMLS	C5680166	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93626Rare renal disease

Parents in the classifications (1):

ORPHA:2134Atypical hemolytic uremic syndrome
rare genetic diseases; rare renal diseases; rare hematological diseases; rare transplant-related disorders

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:93575OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly referred to · inactive
ORPHA:93576OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly referred to · inactive
ORPHA:93578OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly referred to · inactive
ORPHA:93579OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly referred to · inactive
ORPHA:93580OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly referred to · inactive
ORPHA:217023OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly referred to · inactive

Genes

6 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
THBD	Candidate gene tested in	Not yet assessed	HGNC:11784	ENSG00000178726	188040	20p11.21	thrombomodulin	20301541[PMID]
C3	Disease-causing germline mutation(s) in	Assessed	HGNC:1318	ENSG00000125730	120700	19p13.3	complement C3	20301541[PMID]
CD46	Disease-causing germline mutation(s) in	Assessed	HGNC:6953	ENSG00000117335	120920	1q32.2	CD46 molecule	20301541[PMID]
CFB	Disease-causing germline mutation(s) in	Assessed	HGNC:1037	ENSG00000243649	138470	6p21.33	complement factor B	20301541[PMID]
CFH	Disease-causing germline mutation(s) in	Assessed	HGNC:4883	ENSG00000000971	134370	1q31.3	complement factor H	20301541[PMID]
CFI	Disease-causing germline mutation(s) in	Assessed	HGNC:5394	ENSG00000205403	217030	4q25	complement factor I	20301541[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Europe	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/544472
This record as JSON: /data/d/544472.json