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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
30 signs/symptoms
Laron syndrome with immunodeficiency
Antley-Bixler syndrome

STAT5B FGFR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
STAT5B
(0.63)
FGFR2



Citations in the biomedical literature:


Laron syndrome with immunodeficiency
STAT5B
Antley-Bixler syndrome
FGFR2



Laron syndrome with immunodeficiency
Antley-Bixler syndrome

Synonym(s):
- Laron-like syndrome
- Short stature due to STAT5b deficiency

Synonym(s):
(no synonyms)

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

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

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

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537780

Antley-Bixler syndrome

Very frequent
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Camptodactyly of fingers
- Congenital cardiac anomaly / malformation / cardiopathy
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- Humeroradial fusion
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Rib structure anomalies
- Short / small nose

Frequent
- Choanal atresia
- Craniostenosis / craniosynostosis / sutural synostosis
- Proptosis / exophthalmos
- Structural anomalies of the kidney and the urinary tract

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flat supraorbital ridge
- Hypertelorism
- Long philtrum
- Microstomia / little mouth
- Mutiple fractures / bone fragility
- Strabismus / squint
- Talipes-varus / metatarsal varus
- Turricephaly / oxycephaly / acrocephaly


Laron syndrome with immunodeficiency

(no data available)