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Reticular dysgenesis

1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Pseudoxanthoma elasticum

2 OMIM references -
1 associated gene
47 signs/symptoms

Reticular dysgenesis

Pseudoxanthoma elasticum

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AK2	(0.63)	ABCC6

Citations in the biomedical literature:

Reticular dysgenesis		Pseudoxanthoma elasticum
	Synonym(s): - AK2 deficiency - Congenital aleukocytosis - De Vaal disease - Generalized hematopoietic hypoplasia - SCID with leukopenia - Severe combined immunodeficiency with leukopenia		Synonym(s): - Gronblad-Strandberg-Touraine syndrome - PXE

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare cardiac disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare renal disease - Rare skin 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: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538361		External references: 2 OMIM references - 1 MeSH reference: D011561


COMMON SIGNS	- Autosomal recessive inheritance - Cutaneous rash

Reticular dysgenesis		Pseudoxanthoma elasticum
	Very frequent - Acute diarrhea - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anaemia - 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 - Dehydration / hydroelectrolytic loss		Very frequent - Anomalies of skin, subcutaneous tissue and mucosae - Arterial stenosis / occlusion - Autosomal dominant inheritance - Cerebral vascular anomalies - Congenital cardiac anomaly / malformation / cardiopathy - Excess nuchal skin without pterygium colli - Follicular / erythematous / edematous papules / milium - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Mild visual loss / impaired visual acuity - Retinal / chorioretinal dysplasia / dystrophy - Retinopathy - Rippled skin - Tight skin / lack of elasticity Frequent - Ecchymoses - Myopia - Striae Occasional - Acne / acnea - Angor pectoris / myocardial infarction - Anomalies of chest / thorax / trunk - Arterial aneurism (excluding aorta) - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Arterial pulse abolition - Blue sclerae - Cardiomyopathy / hypertrophic / dilated - Chronic arterial hypertension - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Endocardium anomalies / fibroelastosis / endocarditis - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hemiplegia / diplegia / hemiparesia / limb palsy - High vaulted / narrow palate - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Hypothyroidy - Intracranial / cerebral calcifications - Intracranial / cerebral / meningeal hemorrhage - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Periarticular tissue anomaly / extraarticular calcifications - Platelet disorders / thrombopathies - Pruritus / itching - Renal / kidney calcifications / nephrocalcinosis - Scoliosis - Subcutaneous nodules / lipomas / tumefaction / swelling - Telangiectasiae of the skin - Visual loss / blindness / amblyopia - Xanthomas / lipomas