Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
17 OMIM references -
19 associated genes
44 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Kallmann syndrome

CBL CHD7
DUSP6
FGF17
FGF8
FGFR1
FLRT3
HESX1
HS6ST1
IL17RD
KAL1
KISS1R
NSMF
PROK2
PROKR2
SEMA3A
SOX10
SPRY4
TACR3
WDR11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBL
(0.79)
SPRY4



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Kallmann syndrome
CHD7 DUSP6 FGF17 FGF8 FGFR1 FLRT3
HESX1 HS6ST1 IL17RD KAL1 KISS1R NSMF
PROK2 PROKR2 SEMA3A SOX10 SPRY4 TACR3
WDR11



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Kallmann syndrome

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

Synonym(s):
- Congenital hypogonadotropic hypogonadism with anosmia
- Olfacto-genital pathological sequence

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
17 OMIM references -
1 MeSH reference: D017436

Kallmann syndrome

Very frequent
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Impotence / painful erection / priapism / erection troubles
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Sterility / hypofertility
- X-linked recessive inheritance

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Breast tissue / mammary gland absence / aplasia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Primary amenorrhea
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormal gait
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Agenesis / hypoplasia / aplasia of kidneys
- Anodontia / oligodontia / hypodontia
- Ataxia / incoordination / trouble of the equilibrium
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Delayed bone age
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Dyspareunia / coital pain / vaginal dryness
- Elocution disorders / dysarthria / dysphonia
- Generalized obesity
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia
- Ichthyosis / ichthyosiform dermatitis
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Movement disorder
- Muscle weakness / flaccidity
- Mutiple fractures / bone fragility
- Nystagmus
- Pes cavus
- Pes talus
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Tremor
- Uterine / uterus / Fallopian tubes anomalies
- Visual loss / blindness / amblyopia


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)