ODCs

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17p11.2 microduplication syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital erythropoietic porphyria

1 OMIM reference -
2 associated genes
14 signs/symptoms

17p11.2 microduplication syndrome

Congenital erythropoietic porphyria

RAI1	(UniProt - OMIM)		GATA1	(UniProt - OMIM)
			UROS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RAI1	(0.63)	GATA1

Citations in the biomedical literature:

17p11.2 microduplication syndrome		Congenital erythropoietic porphyria
	Synonym(s): - Potocki-Lupski syndrome - Trisomy 17p11.2		Synonym(s): - CEP - GÃ¼nther disease

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: adult Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536578		External references: 1 OMIM reference - No MeSH references

17p11.2 microduplication syndrome		Congenital erythropoietic porphyria
	Very frequent - Anomaly of the pharynx / pharyngeal anomaly - Apnea / sleep apnea - Autism / autistic disoders - Elocution disorders / dysarthria / dysphonia - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperactivity / attention deficit - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Total / partial trisomy / duplication Frequent - Broad forehead - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - EEG anomalies - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypermetropia - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis - Triangular face Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dental malocclusion - Hearing loss / hypoacusia / deafness - Hypertelorism - Low set ears / posteriorly rotated ears - Macrostomia / big mouth - Microcephaly - Short stature / dwarfism / nanism - Tooth shape anomaly		Very frequent - Abnormal colour of the urine / cholic / dark urines - Auto-aggressivity / auto-mutilation - Autosomal recessive inheritance - Dental staining anomaly / spotted teeth / erythrodontia - Hemolytic anemia - Hirsutism / hypertrichosis / Increased body hair - Porphyrins metabolism anomalies / porphyria - Skin photosensitivity - Splenomegaly - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Immunodeficiency / increased susceptibility to infections / recurrent infections - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Thrombocytopenia / thrombopenia