Cytoscape Web
Click node...


2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
27 signs/symptoms
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Rabson-Mendenhall syndrome

NPHS1 INSR
NPHS2
PTPRO


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTPRO
(0.68)
INSR



Citations in the biomedical literature:


Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
NPHS1 NPHS2 PTPRO
Rabson-Mendenhall syndrome
INSR



Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Rabson-Mendenhall syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D056731

Rabson-Mendenhall syndrome

Very frequent
- Acanthosis nigricans
- Acromegaly
- Anomalies of teeth and dentition
- Anomalies of the abdominal wall
- Autosomal dominant inheritance
- Coarse face
- Diabetes mellitus
- Dysplastic / thick / grooved fingernails
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hirsutism / hypertrichosis / Increased body hair
- Intrauterine growth retardation
- Lanugo
- Macropenis / megapenis / large penis
- Premature eruption of teeth / natal teeth
- Prognathism / prognathia

Frequent
- Coarse / thick hair
- Dry / squaly skin / exfoliation
- Peripheral neuropathy
- Precocious puberty
- Premature ageing
- Proteinuria
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Thick skin / pachydermia / orange skin
- Thyroid anomalies

Occasional
- Abnormal / polycystic ovaries
- Megaureter / hydronephrosis / pyeloureteral junction syndrome


Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes

(no data available)