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1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
1 associated gene
33 signs/symptoms
Otopalatodigital syndrome type 1
X-linked agammaglobulinemia

FLNA BTK


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
(0.68)
BTK



Citations in the biomedical literature:


Otopalatodigital syndrome type 1
FLNA
X-linked agammaglobulinemia
BTK



Otopalatodigital syndrome type 1
X-linked agammaglobulinemia

Synonym(s):
(no synonyms)

Synonym(s):
- BTK-deficiency
- Bruton type agammaglobulinemia

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 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: -
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: childhood
Average age of death: normal
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C537409


COMMON
SIGNS
- X-linked recessive inheritance


Otopalatodigital syndrome type 1
X-linked agammaglobulinemia

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

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


Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anomalies of the lymphatic system
- Asthenia / fatigue / weakness
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Chronic / relapsing otitis
- Cutaneous rash
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fever / chilling
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections
- Short stature / dwarfism / nanism
- Tonsil anomaly / hypertrophy / adenoiditis

Frequent
- Arthritis / synovitis / synovial proliferation
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Meningitis / meningeal syndrome
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia

Occasional
- Alopecia
- Anaemia
- Autoimmunity / autoimmune reaction / autoantibodies
- Early death / lethality
- Hepatitis / icterus / cholestasis
- Irregular / patchy skin hypopigmentation
- Malabsorption / chronic diarrhea / steatorrhea
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Thrombocytopenia / thrombopenia
- Weight loss / loss of appetite / break in weight curve / general health alteration