Reni syndrome - CISMeF

Preferred Label : Reni syndrome;

Symbol : RENI;

CISMeF acronym : NPHS14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sphingosine phosphate lyase insufficiency syndrome; SPLIS; NPHS14; Renal, endocrine, neurologic, and immune syndrome; Nephrotic syndrome, type 14;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sphingosine-1-phosphate lyase 1 gene (SGPL1, 603729.0001);

Laboratory abnormalities : Increased serum triglycerides; Hypoalbuminemia; Proteinuria; Increased plasma sphingolipid intermediates and ceramide species; Increased ACTH;

Prefixed ID : #617575;

Détails

Origin ID

617575;

UMLS CUI

C4540559;

Automatic exact mappings (from CISMeF team)
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency [ORDO Disease]
Currated CISMeF NLP mapping
- nephrotic syndrome type 14 [DO Concept]
DO Cross reference
- nephrotic syndrome type 14 [DO Concept]
Genes related to phenotype
- Sphingosine-1-phosphate lyase 1 [OMIM gene]
HPO term(s)
- Adrenal insufficiency [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- Developmental regression [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Edema [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoglycemia [HPO term]
- Hypogonadism [HPO term]
- Hypothyroidism [HPO term]
- Ichthyosis [HPO term]
- Lymphopenia [HPO term]
- Mental deterioration [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Nephrotic syndrome [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Strabismus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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