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Autosomal agammaglobulinemia
7 OMIM references -
8 associated genes
32 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 2
SHORT syndrome
1 OMIM reference -
1 associated gene
40 signs/symptoms
Autosomal agammaglobulinemia
SHORT syndrome

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

COMMON
GENES 		PIK3R1


Citations in the biomedical literature:


Autosomal agammaglobulinemia
BLNK CD79A CD79B IGHM IGLL1 LRRC8A
PIK3R1 TCF3
SHORT syndrome



Autosomal agammaglobulinemia
SHORT syndrome

Synonym(s):
- Agammaglobulinemia, non-Bruton type
Synonym(s):
- Aarskog-Ose-Pande syndrome
- Lipodystrophy - Rieger anomaly - diabetes
- Rieger anomaly - partial lipodystrophy
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537327
COMMON
SIGNS 		- Autosomal dominant inheritance
- Hypertelorism

Autosomal agammaglobulinemia
SHORT syndrome

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
- Malabsorption / chronic diarrhea / steatorrhea
- Meningitis / meningeal syndrome
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia
- Warts / papillomas


Very frequent
- Aniridia / iris hypoplasia
- Anterior chamber anomaly
- Deepset eyes / enophthalmos
- Hyperextensible joints / articular hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism

Frequent
- Abnormal fat distribution / lipodystrophy
- Anomalies of teeth and dentition
- Complete / partial microdontia
- Diabetes mellitus
- Enamel anomaly
- Face / facial anomalies
- Glaucoma
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Insulin resistance
- Megalocornea
- Mid-facial hypoplasia / short / small midface
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Rippled skin
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Broad nasal root
- Clinodactyly of fifth finger
- Corneal clouding / opacity / vascularisation
- Embryotoxon
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Iridocorneal dysgenesis / iridogoniodysgenesis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myotonia
- Prominent supraorbital ridge
- Short hand / brachydactyly
- Telecanthus / canthal dystopy
- Triangular face
- Upper limb polydactyly / hexadactyly
- Urinary / renal lithiasis / kidney stones / nephritic colic