ORPHA:656

Hereditary steroid-resistant nephrotic syndrome

Synonyms: Familial idiopathic steroid-resistant nephrotic syndrome · Genetic FSGS · Genetic SRNS · Hereditary SRNS · Isolated SRNS · Monogenic SRNS

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Status: active

A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hereditary steroid-resistant nephrotic syndrome	Familial idiopathic steroid-resistant nephrotic syndrome · Genetic FSGS · Genetic SRNS · Hereditary SRNS · Isolated SRNS · Monogenic SRNS
fr	Syndrome néphrotique corticorésistant héréditaire	Néphrose corticorésistante d'origine génétique · Néphrose idiopathique familiale · Syndrome néphrotique corticorésistant d'origine génétique
de	Nephrotisches Syndrom, steroid-resistentes, hereditäres	Familiäres idiopathische steroid-resistentes Nephrotisches Syndrom · Genetisch bedingtes FSGS · Genetisch bedingtes SRNS · Hereditäres SRNS · Isoliertes SRNS · Monogenisches steroid-resistentes Nephrotisches Syndrom
es	Síndrome nefrótico corticorresistente hereditario	FSGS genético · SNCR aislado · SNCR genético · SNCR hereditario · SNCR monogénico · Síndrome nefrótico corticorresistente familiar idiopático · Síndrome nefrótico hereditario resistente a esteroides
it	Sindrome nefrosica ereditaria resistente agli steroidi	SRNS isolata · SRNS monogenica · FSGS genetica · SRNS ereditaria · SRNS genetica · Sindrome nefrosica ereditaria resistente agli steroidi · Sindrome nefrosica idiopatica familiare resistente agli steroidi
nl	Hereditair steroïdresistent nefrotisch syndroom	Erfelijk steroïdresistent nefrotisch syndroom · Familiaal idiopathisch steroïdresistent nefrotisch syndroom · Genetisch SRNS · Genetische FSGS · Geïsoleerd SRNS · Hereditair SRNS · Monogeen SRNS
pt	Síndrome nefrótica corticorresistente genética	SRNS genética · Síndrome nefrótica corticorresistente hereditária · Síndrome nefrótica corticorresistente idiopática familiar
pl	Dziedziczny zespół nerczycowy oporny na sterydy	Rodzinny idiopatyczny zespół nerczycowy · Genetycznie uwarunkowany zespół nerczycowy oporny na sterydy
cs	Geneticky podmíněný steroid-rezistentní nefrotický syndrom	Familiární nefrotický syndrom
uk	Генетично обумовлений стероїдорезистентний нефротичний синдром	Сімейний ідіопатичний стероїдорезистентний нефротичний синдром · Генетичний SRNS · Спадковий стероїдорезистентний нефротичний синдром
zh	遗传性激素抵抗型肾病综合征	家族性特发性激素抵抗型肾病综合征
tr	Genetik steroide dirençli nefrotik sendrom	Genetik SRNS · Kalıtsal steroide dirençli nefrotik sendrom · Ailesel idiyopatik steroide dirençli nefrotik sendrom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	256370	BTNT		validated
OMIM	301028	BTNT		validated
OMIM	600995	BTNT		validated
OMIM	603278	BTNT		validated
OMIM	603965	BTNT		validated
OMIM	607832	BTNT		validated
OMIM	610725	BTNT		validated
OMIM	612551	BTNT		validated
OMIM	613237	BTNT		validated
OMIM	614131	BTNT		validated
OMIM	614196	BTNT		validated
OMIM	615244	BTNT		validated
OMIM	615573	BTNT		validated
OMIM	615861	NTBT		validated
OMIM	616002	BTNT		validated
OMIM	616032	BTNT		validated
OMIM	616220	BTNT		validated
OMIM	616730	BTNT		validated
OMIM	616892	BTNT		validated
OMIM	616893	BTNT		validated
OMIM	617609	BTNT		validated
OMIM	617783	BTNT		validated
OMIM	618176	BTNT		validated
OMIM	618177	BTNT		validated
OMIM	618178	BTNT		validated
OMIM	618594	BTNT		validated
OMIM	619155	BTNT		validated
OMIM	619201	BTNT		validated
OMIM	619263	BTNT		validated
OMIM	620049	BTNT		validated
ICD-10	N04.1	BTNT	attributed	validated
ICD-10	N04.3	BTNT	attributed	validated
ICD-10	N04.8	BTNT	attributed	validated
ICD-11	GB41	NTBT	index	validated
MONDO	0019006	E		validated
UMLS	C4273714	E		validated
GARD	3946	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:564127Genetic nephrotic syndrome
rare genetic diseases; rare renal diseases; rare transplant-related disorders

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:84271Sporadic idiopathic steroid-resistant nephrotic syndrome moved to · inactive
ORPHA:93213OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis referred to · inactive
ORPHA:93214OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation referred to · inactive
ORPHA:93216OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes referred to · inactive
ORPHA:93217OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis referred to · inactive
ORPHA:93218OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis referred to · inactive
ORPHA:93220OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis referred to · inactive
ORPHA:93221OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes referred to · inactive
ORPHA:93222OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation referred to · inactive
ORPHA:97555OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy referred to · inactive

Genes

34 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TRPC6	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:12338	ENSG00000137672	603652	11q22.1	transient receptor potential cation channel subfamily C member 6	15879175[PMID]_15924139[PMID]
ARHGAP24	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25361	ENSG00000138639	610586	4q21.23-q21.3	Rho GTPase activating protein 24	21911940[PMID]
ARHGDIA	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:678	ENSG00000141522	601925	17q25.3	Rho GDP dissociation inhibitor alpha	23434736[PMID]
COQ8B	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:19041	ENSG00000123815	615567	19q13.2	coenzyme Q8B	24270420[PMID]
CRB2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:18688	ENSG00000148204	609720	9q33.3	crumbs cell polarity complex component 2	25557779[PMID]
EMP2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3334	ENSG00000213853	602334	16p13.13	epithelial membrane protein 2	24814193[PMID]
NUP93	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:28958	ENSG00000102900	614351	16q13	nucleoporin 93	26878725[PMID]
PAX2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:8616	ENSG00000075891	167409	10q24.31	paired box 2	24676634[PMID]
TBC1D8B	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:24715	ENSG00000133138	301027	Xq22.3	TBC1 domain family member 8B	30661770[PMID]
ACTN4	Disease-causing germline mutation(s) in	Assessed	HGNC:166	ENSG00000130402	604638	19q13.2	actinin alpha 4	10700177[PMID]
ANKFY1	Disease-causing germline mutation(s) in	Assessed	HGNC:20763	ENSG00000185722	607927	17p13.2	ankyrin repeat and FYVE domain containing 1	29959197[PMID]
ANLN	Disease-causing germline mutation(s) in	Assessed	HGNC:14082	ENSG00000011426	616027	7p14.2	anillin, actin binding protein	24676636[PMID]
AVIL	Disease-causing germline mutation(s) in	Assessed	HGNC:14188	ENSG00000135407	613397	12q14.1	advillin	29058690[PMID]
CD2AP	Disease-causing germline mutation(s) in	Assessed	HGNC:14258	ENSG00000198087	604241	6p12.3	CD2 associated protein	17713465[PMID]
DAAM2	Disease-causing germline mutation(s) in	Assessed	HGNC:18143	ENSG00000146122	606627	6p21.2	dishevelled associated activator of morphogenesis 2	33232676[PMID]
GAPVD1	Disease-causing germline mutation(s) in	Assessed	HGNC:23375	ENSG00000165219	611714	9q33.3	GTPase activating protein and VPS9 domains 1	29959197[PMID]
INF2	Disease-causing germline mutation(s) in	Assessed	HGNC:23791	ENSG00000203485	610982	14q32.33	inverted formin, FH2 and WH2 domain containing	20023659[PMID]
KANK2	Disease-causing germline mutation(s) in	Assessed	HGNC:29300	ENSG00000197256	614610	19p13.2	KN motif and ankyrin repeat domains 2	25961457[PMID]
LAMA5	Disease-causing germline mutation(s) in	Assessed	HGNC:6485	ENSG00000130702	601033	20q13.33	laminin subunit alpha 5	29534211[PMID]
MAGI2	Disease-causing germline mutation(s) in	Assessed	HGNC:18957	ENSG00000187391	606382	7q21.11	membrane associated guanylate kinase, WW and PDZ domain containing 2	29773874{PMID]
MYO1E	Disease-causing germline mutation(s) in	Assessed	HGNC:7599	ENSG00000157483	601479	15q22.2	myosin IE	21756023[PMID]
NPHS1	Disease-causing germline mutation(s) in	Assessed	HGNC:7908	ENSG00000161270	602716	19q13.12	NPHS1 adhesion molecule, nephrin	11854170[PMID]_19812541[PMID]_18614772[PMID]
NPHS2	Disease-causing germline mutation(s) in	Assessed	HGNC:13394	ENSG00000116218	604766	1q25.2	NPHS2 stomatin family member, podocin	11805166[PMID]
NUP107	Disease-causing germline mutation(s) in	Assessed	HGNC:29914	ENSG00000111581	607617	12q15	nucleoporin 107	26411495[PMID]
NUP133	Disease-causing germline mutation(s) in	Assessed	HGNC:18016	ENSG00000069248	607613	1q42.13	nucleoporin 133	30179222[PMID]
NUP160	Disease-causing germline mutation(s) in	Assessed	HGNC:18017	ENSG00000030066	607614	11p11.2	nucleoporin 160	30179222[PMID]
NUP205	Disease-causing germline mutation(s) in	Assessed	HGNC:18658	ENSG00000155561	614352	7q33	nucleoporin 205	26878725[PMID]
NUP37	Disease-causing germline mutation(s) in	Assessed	HGNC:29929	ENSG00000075188	609264	12q23.2	nucleoporin 37	30179222[PMID]
NUP85	Disease-causing germline mutation(s) in	Assessed	HGNC:8734	ENSG00000125450	170285	17q25.1	nucleoporin 85	30179222[PMID]
PLCE1	Disease-causing germline mutation(s) in	Assessed	HGNC:17175	ENSG00000138193	608414	10q23.33	phospholipase C epsilon 1	20591883[PMID]
PTPRO	Disease-causing germline mutation(s) in	Assessed	HGNC:9678	ENSG00000151490	600579	12p12.3	protein tyrosine phosphatase receptor type O	21722858[PMID]
WT1	Disease-causing germline mutation(s) in	Assessed	HGNC:12796	ENSG00000184937	607102	11p13	WT1 transcription factor	20150449[PMID]
APOL1	Major susceptibility factor in	Not yet assessed	HGNC:618	ENSG00000100342	603743	22q12.3	apolipoprotein L1	20668430[PMID]_26901816[PMID]
COL4A3	Modifying germline mutation in	Assessed	HGNC:2204	ENSG00000169031	120070	2q36.3	collagen type IV alpha 3 chain	25407002[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet 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

17 annotations · validated 2021-08-24

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0000093	Proteinuria
Very frequent (99-80%)
HP:0000969	Edema
Frequent (79-30%)
HP:0012622	Chronic kidney disease
HP:0000097	Focal segmental glomerulosclerosis
HP:0100539	Periorbital edema
HP:0003774	Stage 5 chronic kidney disease
Occasional (29-5%)
HP:0002027	Abdominal pain
HP:0001967	Diffuse mesangial sclerosis
HP:0001945	Fever
HP:0031504	Foamy urine
HP:0002315	Headache
HP:0003073	Hypoalbuminemia
HP:0000737	Irritability
HP:0012579	Minimal change glomerulonephritis
HP:0011947	Respiratory tract infection
Very rare (<4-1%)
HP:0000707	Abnormality of the nervous system
HP:0002586	Peritonitis

Run the differential on the 2 obligate / very frequent terms

Annotation source: 28566477[PMID]_29910038[PMID]_32155690[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/656
This record as JSON: /data/d/656.json