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Metachondromatosis
1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Autosomal agammaglobulinemia
7 OMIM references -
8 associated genes
32 signs/symptoms
Metachondromatosis
Autosomal agammaglobulinemia

PTPN11
(UniProt - OMIM)
 BLNK
(UniProt - OMIM)
CD79A
(UniProt - OMIM)
CD79B
(UniProt - OMIM)
IGHM
(UniProt - OMIM)
IGLL1
(UniProt - OMIM)
LRRC8A
(UniProt - OMIM)
PIK3R1
(UniProt - OMIM)
TCF3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTPN11
(0.84)
PIK3R1


Citations in the biomedical literature:


Metachondromatosis
PTPN11
Autosomal agammaglobulinemia
BLNK CD79A CD79B IGHM IGLL1 LRRC8A
PIK3R1 TCF3



Metachondromatosis
Autosomal agammaglobulinemia

Synonym(s):
(no synonyms)

Synonym(s):
- Agammaglobulinemia, non-Bruton type
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance

Metachondromatosis
Autosomal agammaglobulinemia

Very frequent
- Bone pain
- Cranial nerves palsy
- Enchondroses
- Epiphyseal anomaly
- Exostoses
- Metaphyseal anomaly
- Osteonecrosis / bone infarction
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Periarticular tissue anomaly / extraarticular calcifications



Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Asthenia / fatigue / weakness
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Chronic / relapsing otitis
- Cough
- Cutaneous rash
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections

Frequent
- Arthritis / synovitis / synovial proliferation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Osteomyelitis / osteitis / periostitis / spondylodisciitis

Occasional
- Bronchial dilation / dilatation / bronchiectasia
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Dehydration / hydroelectrolytic loss
- Early death / lethality
- Epicanthic folds
- External ear anomalies
- Hepatitis / icterus / cholestasis
- High vaulted / narrow palate
- Hypertelorism
- Malabsorption / chronic diarrhea / steatorrhea
- Meningitis / meningeal syndrome
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia
- Warts / papillomas