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Juvenile myelomonocytic leukemia
1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Laron syndrome
1 OMIM reference -
1 associated gene
31 signs/symptoms
Juvenile myelomonocytic leukemia
Laron syndrome

CBL
(UniProt - OMIM)
 GHR
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
NF1
(UniProt - OMIM)
NRAS
(UniProt - OMIM)
PTPN11
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTPN11
(0.85)
GHR


Citations in the biomedical literature:


Juvenile myelomonocytic leukemia
CBL KRAS NF1 NRAS PTPN11
Laron syndrome
GHR



Juvenile myelomonocytic leukemia
Laron syndrome

Synonym(s):
- Juvenile chronic myelomonocytic leukemia
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 hematologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Neoplasms -
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:
1 OMIM reference -
1 MeSH reference: D054429
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


Juvenile myelomonocytic leukemia

(no data available)