Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Synonyms: Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency · SPLIS · Sphingosine phosphate lyase insufficiency syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency · SPLIS · Sphingosine phosphate lyase insufficiency syndrome |
| fr | Syndrome néphrotique familial corticorésistant avec insuffisance surrénalienne | SPLIS |
| de | Familiäres steroidresistentes nephrotisches Syndrom mit Nebenniereninsuffizienz | Primäre adrenale Insuffizienz mit steroidresistentem nephrotischen Syndrom durch SGPL1-Mangel · SPLIS · Sphingosinphosphatlyase-Insuffizienzsyndrom |
| es | Síndrome nefrótico resistente a esteroides con insuficiencia suprarrenal familiar | SPLIS · Síndrome de insuficiencia de liasa de fosfato de esfingosina · Síndrome nefrótico resistente a esteroides-insuficiencia suprarrenal primaria por deficiencia de SGPL1 |
| it | Sindrome nefrosica familiare resistente agli steroidi con insufficienza surrenalica | SPLIS · Sindrome da insufficienza della sfingosina fosfato liasi · Sindrome nefrosica steroido-resistente primaria da insufficienza surrenalica dovuta a deficit di SGPL1 |
| nl | Familiaal steroïdresistent nefrotisch syndroom met adrenale insufficiëntie | Primaire adrenale insufficiëntie - steroïderesistent nefrotisch syndroom door SGPL1-deficiëntie · SPLIS · Sfingosinefosfaatlyase-insufficiëntiesyndroom |
| pt | Síndrome nefrótica corticorresistente familiar com insuficiência supra-renal | SPLIS · Síndrome de insuficiência de esfingosina fosfatase liase · Síndrome nefrótica corticorresistente-insuficiência supra-renal primária por deficiência de SGPL1 |
| pl | Rodzinny zespół nerczycowy oporny na sterydy z niewydolnością nadnerczy | Pierwotny zespół nerczycowy oporny na sterydy z powodu niedoboru SGPL1 · Rodzinny steroidooporny zespół nerczycowy z niedoczynnością kory nadnerczy |
| cs | Familiární nefrotický syndrom rezistentní vůči steroidům s adrenální insuficiencí | Primární nedostatecnost nadledvin a nefrotický syndrom rezistentní vuci steroidum na podklade deficitu SGPL1 · Primární nedostatečnost nadledvin a nefrotický syndrom rezistentní vůči steroidům na podkladě deficitu SGPL1 |
| uk | Сімейний стероїдорезистентний нефротичний синдром з наднирковою недостатністю | Первинна надниркова недостатність - стероїдорезистентний нефротичний синдром, зумовлений дефіцитом SGPL1 · Синдром недостатності сфінгозинфосфатліази · SPLIS |
| zh | 家族性激素抵抗性肾病综合征伴肾上腺功能不全 | SGPL1缺乏引起的原发性肾上腺功能不全-激素抵抗性肾病综合征 |
| tr | Adrenal yetmezlik ile seyreden ailesel steroide dirençli nefrotik sendrom | SGPL1 eksikliğine bağlı primer adrenal yetersizlik-steroide dirençli nefrotik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617575 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.Y | NTBT | attributed | validated |
| MONDO | 33203 | E | validated | |
| UMLS | C5568768 | E | validated | |
| GARD | 13818 | 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):
Parents in the classifications (3):
- ORPHA:595337Adrenal hypoplasia congenita
rare genetic diseases; rare endocrine diseases - ORPHA:352301Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SGPL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10817 | ENSG00000166224 | 603729 | 10q22.1 | sphingosine-1-phosphate lyase 1 | 28181337[PMID]_24777844[PMID]_28218265[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/506334
- This record as JSON: /data/d/506334.json