Cytoscape Web
Click node...

Autosomal agammaglobulinemia
7 OMIM references -
8 associated genes
32 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Monosomy 22q13
1 OMIM reference -
1 associated gene
35 signs/symptoms
Autosomal agammaglobulinemia
Monosomy 22q13

BLNK
(UniProt - OMIM)
 SHANK3
(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)
SHANK3


Citations in the biomedical literature:


Autosomal agammaglobulinemia
BLNK CD79A CD79B IGHM IGLL1 LRRC8A
PIK3R1 TCF3
Monosomy 22q13
SHANK3



Autosomal agammaglobulinemia
Monosomy 22q13

Synonym(s):
- Agammaglobulinemia, non-Bruton type
Synonym(s):
- 22q13 deletion
- Phelan-McDermid syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Immunodeficiency / increased susceptibility to infections / recurrent infections

Autosomal agammaglobulinemia
Monosomy 22q13

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
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections

Frequent
- Arthritis / synovitis / synovial proliferation
- Autosomal dominant inheritance
- 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
- 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


Very frequent
- Advanced bone age
- Hypotonia
- Insensitivity to pain
- Large hand
- Long / thick / curved lashes / trichomegaly / polytrichia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / hypoplastic toenails

Frequent
- Broad cheeks / cherub-like / cherubin face
- Broad nasal root
- Deepset eyes / enophthalmos
- Dolichocephaly / scaphocephaly
- Flat face
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Long / large / bulbous nose
- Pointed chin
- Psychic / behavioural troubles
- Ptosis
- Puffy eyelids
- Sacral sinus / dimple
- Thick / bushy eyebrows

Occasional
- Anomalies of teeth and dentition
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Generalized obesity
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphedema
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Umbilical hernia