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Autosomal agammaglobulinemia
7 OMIM references -
8 associated genes
32 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Osteodysplasty, Melnick-Needles type
1 OMIM reference -
1 associated gene
38 signs/symptoms
Autosomal agammaglobulinemia
Osteodysplasty, Melnick-Needles type

BLNK
(UniProt - OMIM)
 FLNA
(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)
PIK3R1
(0.63)
FLNA


Citations in the biomedical literature:


Autosomal agammaglobulinemia
BLNK CD79A CD79B IGHM IGLL1 LRRC8A
PIK3R1 TCF3
Osteodysplasty, Melnick-Needles type
FLNA



Autosomal agammaglobulinemia
Osteodysplasty, Melnick-Needles type

Synonym(s):
- Agammaglobulinemia, non-Bruton type
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 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
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:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Hypertelorism
- Repeat respiratory infections

Autosomal agammaglobulinemia
Osteodysplasty, Melnick-Needles type

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

Frequent
- Arthritis / synovitis / synovial proliferation
- Autosomal dominant inheritance
- 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
- Malabsorption / chronic diarrhea / steatorrhea
- Meningitis / meningeal syndrome
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia
- Warts / papillomas


Very frequent
- Bowed diaphysis / diaphyses / long bones
- Cortical anomaly / thick bone cortical layer
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- 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
- Short stature / dwarfism / nanism
- 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