ODCs

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Terminal osseous dysplasia - pigmentary defects

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

X-linked agammaglobulinemia

2 OMIM references -
1 associated gene
33 signs/symptoms

Terminal osseous dysplasia - pigmentary defects

X-linked agammaglobulinemia

FLNA

(UniProt - OMIM)

BTK

(UniProt - OMIM)


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

Citations in the biomedical literature:

Terminal osseous dysplasia - pigmentary defects		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 skin 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: normal 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

X-linked agammaglobulinemia
	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 - X-linked recessive inheritance 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
Terminal osseous dysplasia - pigmentary defects
(no data available)