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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
24 signs/symptoms
Fetal and neonatal alloimmune thrombocytopenia
Otopalatodigital syndrome type 1

CD109 FLNA
GP1BA
GP1BB
ITGA2
ITGA2B
ITGB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GP1BA
ITGB3
(0.73)
(0.63)
FLNA
FLNA



Citations in the biomedical literature:


Fetal and neonatal alloimmune thrombocytopenia
CD109 GP1BA GP1BB ITGA2 ITGA2B ITGB3

Otopalatodigital syndrome type 1
FLNA



Fetal and neonatal alloimmune thrombocytopenia
Otopalatodigital syndrome type 1

Synonym(s):
- NAIT

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare hematologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Certain conditions originating in the perinatal period -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: x-linked dominant

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

Otopalatodigital syndrome type 1

Very frequent
- Anodontia / oligodontia / hypodontia
- Broad nose / nasal bridge
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Prominent supraorbital ridge
- Restricted joint mobility / joint stiffness / ankylosis
- Short big toe
- Wide space between 1st-2nd toes
- X-linked recessive inheritance

Frequent
- Bowed diaphysis / diaphyses / long bones
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Elbow dislocation
- Frontal sinus agenesis / anomaly
- Metacarpal anomalies / Archibald's sign
- Osteosclerosis / osteopetrosis / bone condensation
- Proximally set thumb
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers hypoplasia
- Thumb hypoplasia / aplasia / absence

Occasional
- Anomalies of spine, vertebrae and pelvis
- Carpal bones fusion / synostosis
- Tarsal anomaly / fusion / synostosis


Fetal and neonatal alloimmune thrombocytopenia

(no data available)