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Pediatric systemic lupus erythematosus
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Laron syndrome
1 OMIM reference -
1 associated gene
31 signs/symptoms
Pediatric systemic lupus erythematosus
Laron syndrome

IRAK1
(UniProt - OMIM)
 GHR
(UniProt - OMIM)
PTPN22
(UniProt - OMIM)
SPP1
(UniProt - OMIM)
STAT4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTPN22
(0.68)
GHR


Citations in the biomedical literature:


Pediatric systemic lupus erythematosus
IRAK1 PTPN22 SPP1 STAT4
Laron syndrome
GHR



Pediatric systemic lupus erythematosus
Laron syndrome

Synonym(s):
- SLE, pediatric onset
Synonym(s):
- Complete growth hormone insensitivity
- GH receptor deficiency
- Growth hormone receptor deficiency
- Laron-type dwarfism
- Primary GH insensitivity
- Primary GH resistance
- Primary growth hormone insensitivity
- Primary growth hormone resistance
- Short stature due to growth hormone resistance
Classification (Orphanet):
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D046150
Laron syndrome

Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of the endocrine glands
- Autosomal recessive inheritance
- Complete / partial microdontia
- Delayed bone age
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Facial dysmorphism
- High forehead
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Short stature / dwarfism / nanism
- Truncal obesity

Frequent
- Elbow anomalies(excluding luxation)
- Flat supraorbital ridge
- Hypoglycemia
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Short foot / brachydactyly of toes
- Short hand / brachydactyly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Blue sclerae
- Flattened nose
- Hairy patch
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Osteoarthritis
- Premature ageing
- Skull / cranial anomalies


Pediatric systemic lupus erythematosus

(no data available)