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Reticular dysgenesis
1 OMIM reference -
1 associated gene
28 connected diseases
23 signs/symptoms
Disease Type of connection
Autosomal dominant hypohidrotic ectodermal dysplasia
Dedifferentiated liposarcoma
Familial isolated dilated cardiomyopathy
Generalized arterial calcification of infancy
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Muscular dystrophy, Selcen type
Pseudohypoaldosteronism type 2E
Pseudoxanthoma elasticum
Short stature due to growth hormone qualitative anomaly
Well-differentiated liposarcoma
Combined oxidative phosphorylation defect type 4
Enchondromatosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Giant cell glioblastoma
Gliosarcoma
Idiopathic pulmonary fibrosis
Keratosis palmoplantaris striata
Leigh syndrome with nephrotic syndrome
Lethal acantholytic epidermolysis bullosa
Maffucci syndrome
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Pyruvate dehydrogenase E3 deficiency
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Synonym(s):
- AK2 deficiency
- Congenital aleukocytosis
- De Vaal disease
- Generalized hematopoietic hypoplasia
- SCID with leukopenia
- Severe combined immunodeficiency with leukopenia
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
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: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538361
Gene symbol UniProt reference OMIM reference
AK2 P54819103020
Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anaemia
- Autosomal recessive inheritance
- Chronic / relapsing otitis
- Hearing loss / hypoacusia / deafness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Leukopenia / hypoleukocytosis
- Polynuclear cells / neutrophils anomalies / neutropenia
- Repeat respiratory infections
- Respiratory chain / mitochondrial anomalies
- Sepsis severe / septicemia
- Severe combined immune deficiency syndrome / SCID
- T-cell deficiency / cellular immunity deficiency
- Thymic aplasia / hypoplasia

Frequent
- Early death / lethality
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fever / chilling
- Malabsorption / chronic diarrhea / steatorrhea
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dehydration / hydroelectrolytic loss