Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
27 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Rabson-Mendenhall syndrome
Parkes Weber syndrome

INSR RASA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
INSR
(0.86)
RASA1



Citations in the biomedical literature:


Rabson-Mendenhall syndrome
INSR
Parkes Weber syndrome
RASA1



Rabson-Mendenhall syndrome
Parkes Weber syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Rabson-Mendenhall syndrome
Parkes Weber 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


Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Global upper and lower limbs anomalies
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Muscle hypertrophy
- Peripheral arteriovenous fistula
- Telangiectasiae of the skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy

Frequent
- Varices / varicous veins / venous insufficiency

Occasional
- Facial pain / cephalalgia / migraine
- Glaucoma
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Vascular anomalies of skin / mucosae