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1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
27 signs/symptoms
Otopalatodigital syndrome type 1
Autosomal dominant Larsen syndrome

FLNA FLNB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
(0.95)
FLNB



Citations in the biomedical literature:


Otopalatodigital syndrome type 1
FLNA
Autosomal dominant Larsen syndrome
FLNB



Otopalatodigital syndrome type 1
Autosomal dominant Larsen syndrome

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypertelorism
- Short hand / brachydactyly


Otopalatodigital syndrome type 1
Autosomal dominant Larsen syndrome

Very frequent
- Anodontia / oligodontia / hypodontia
- Broad nose / nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hearing loss / hypoacusia / deafness
- 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
- 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


Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Broad / bifid thumb
- Depressed nasal bridge
- Depressed premaxillary region / midface
- Flat face
- Frontal bossing / prominent forehead
- Hyperextensible joints / articular hyperlaxity
- Joint dislocation / subluxation
- Long hand / arachnodactyly

Frequent
- Wrist / carpal anomalies

Occasional
- Conductive deafness / hearing loss
- Craniostenosis / craniosynostosis / sutural synostosis
- Epiphyseal anomaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Laryngomalacia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis
- Short stature / dwarfism / nanism
- Structural anomalies of the cardio-circulatory system
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vertebral segmentation anomaly / hemivertebrae