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Congenital erythropoietic porphyria

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Smith-Magenis syndrome

1 OMIM reference -
2 associated genes
72 signs/symptoms

Congenital erythropoietic porphyria

Smith-Magenis syndrome

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


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

Citations in the biomedical literature:

Congenital erythropoietic porphyria		Smith-Magenis syndrome
	Synonym(s): - CEP - GÃ¼nther disease		Synonym(s): - 17p11.2 microdeletion

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		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: adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D058496


COMMON SIGNS	- Auto-aggressivity / auto-mutilation

Congenital erythropoietic porphyria		Smith-Magenis syndrome
	Very frequent - Abnormal colour of the urine / cholic / dark urines - 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		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anodontia / oligodontia / hypodontia - Areflexia / hyporeflexia - Brachycephaly / flat occiput - Broad forehead - Broad nose / nasal bridge - Deepset eyes / enophthalmos - Depressed nasal bridge - Frontal bossing / prominent forehead - Generalized obesity - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Large face - Mid-facial hypoplasia / short / small midface - Respiratory-digestive intersection / aero-digestive cross-roads anomaly - Short hand / brachydactyly - Sleep and vigilance disorders - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Synophris / synophrys - Taurodontia - Tented upper lip - Tics / stereotypias - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Frequent - Abnormal gait - Abnormal vertebral size / shape - Anteverted nares / nostrils - Chronic / relapsing otitis - Clinodactyly of fifth finger - Conductive deafness / hearing loss - Congenital cardiac anomaly / malformation / cardiopathy - Constipation - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - EEG anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Fetal immobility / abnormal fetal movements - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperacusia - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Hypertelorism - Insensitivity to pain - Macroglossia / tongue protrusion / proeminent / hypertrophic - Microcornea - Micrognathia / retrognathia / micrognathism / retrognathism - Mouth held open - Myopia - Peripheral neuropathy - Prognathism / prognathia - Scoliosis - Short philtrum - Short stature / dwarfism / nanism - Short / small nose - Strabismus / squint - Syndactyly of toes Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Ectopic / horseshoe / fused kidneys - Hypothyroidy - Late puberty / hypogonadism / hypogenitalism - Microcephaly - Precocious puberty - Restricted joint mobility / joint stiffness / ankylosis - Retinal detachment - Seizures / epilepsy / absences / spasms / status epilepticus - Upper limb polydactyly / hexadactyly - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter