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1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
Crouzon syndrome - acanthosis nigricans
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

FGFR3 STAT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR3
(0.66)
STAT1



Citations in the biomedical literature:


Crouzon syndrome - acanthosis nigricans
FGFR3
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1



Crouzon syndrome - acanthosis nigricans
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Synonym(s):
- Crouzono-dermoskeletal syndrome

Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Crouzon syndrome - acanthosis nigricans

Very frequent
- Acanthosis nigricans
- Autosomal dominant inheritance
- Frontal bossing / prominent forehead
- High forehead

Frequent
- Abnormal vertebral size / shape
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- Cranial hypertension
- Hydrocephaly
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Ptosis
- Short hand / brachydactyly
- Strabismus / squint
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Beaked nose
- Facial pain / cephalalgia / migraine
- High vaulted / narrow palate
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly
- Visual loss / blindness / amblyopia


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

(no data available)