ODCs

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X-linked agammaglobulinemia

2 OMIM references -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Osteodysplasty, Melnick-Needles type

1 OMIM reference -
1 associated gene
38 signs/symptoms

X-linked agammaglobulinemia

Osteodysplasty, Melnick-Needles type

BTK

(UniProt - OMIM)

FLNA

(UniProt - OMIM)


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

Citations in the biomedical literature:

X-linked agammaglobulinemia		Osteodysplasty, Melnick-Needles type
	Synonym(s): - BTK-deficiency - Bruton type agammaglobulinemia		Synonym(s): - Melnick-Needles syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant

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


COMMON SIGNS	- Repeat respiratory infections - Short stature / dwarfism / nanism

X-linked agammaglobulinemia		Osteodysplasty, Melnick-Needles type
	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 - 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		Very frequent - Bowed diaphysis / diaphyses / long bones - Cortical anomaly / thick bone cortical layer - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Long foot / arachnodactyly of toes - Long hand / arachnodactyly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Prominent supraorbital ridge - Proptosis / exophthalmos - Short rib cage / thorax - X-linked dominant inheritance Frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Broad cheeks / cherub-like / cherubin face - Cardiac septal defect - Clavicle absent / abnormal - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rib structure anomalies - Scoliosis - Terminal / third phalangeal bone of fingers hypoplasia - Vesicorenal / vesicoureteral reflux Occasional - Omphalocele / exomphalos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death