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1 OMIM reference -
1 associated gene
23 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Syndromic X-linked ichthyosis
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

STS CBL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
STS
(0.63)
CBL



Citations in the biomedical literature:


Syndromic X-linked ichthyosis
STS
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL



Syndromic X-linked ichthyosis
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Synonym(s):
- Syndromic RXLI
- Syndromic recessive X-linked ichthyosis

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)

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

Syndromic X-linked ichthyosis

Very frequent
- Dry / squaly skin / exfoliation
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Ichthyosis / ichthyosiform dermatitis
- Insterstitial / subtelomeric microdeletion / deletion
- X-linked recessive inheritance

Frequent
- Corneal clouding / opacity / vascularisation
- Hyperactivity / attention deficit
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Acute leukemia
- Agenesis / hypoplasia / aplasia of kidneys
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of the abdominal wall
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Autism / autistic disoders
- Late puberty / hypogonadism / hypogenitalism
- Renal failure
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Stomach / gastric anomaly
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)