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Congenital erythropoietic porphyria

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

2q37 microdeletion syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

Congenital erythropoietic porphyria

2q37 microdeletion syndrome

GATA1	(UniProt - OMIM)		HDAC4	(UniProt - OMIM)
UROS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GATA1	(0.78)	HDAC4

Citations in the biomedical literature:

Congenital erythropoietic porphyria		2q37 microdeletion syndrome
	Synonym(s): - CEP - GÃ¼nther disease		Synonym(s): - Albright hereditary osteodystrophy 3 - Albright hereditary osteodystrophy-like syndrome - Brachydactyly-intellectual deficit - Del(2)(q37) - Deletion 2q37 - Deletion 2q37-qter - Monosomy 2q37-qter

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538317

Congenital erythropoietic porphyria		2q37 microdeletion syndrome
	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		Very frequent - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface - Round face Frequent - Abnormally placed nipples - Absent / decreased / thin eyebrows - Anteverted nares / nostrils - Clinodactyly of fifth finger - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Depressed nasal bridge - Downturned mouth - Eczema - Frontal bossing / prominent forehead - Generalized obesity - High arched eyebrows - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Metacarpal anomalies / Archibald's sign - Microcephaly - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly - Short stature / dwarfism / nanism - Simian crease / transverse / unique palmar crease - Small foot - Small hand / acromicria - Supernumerary nipples / polythelia - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Thick columella - Thin / hypoplastic ala nasi - Thin / retracted lips - Umbilical hernia - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Autism / autistic disoders - Conductive deafness / hearing loss - Diaphragmatic hernia / defect / agenesis - Gastric / pyloric stenosis - Hyperactivity / attention deficit - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Laryngomalacia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Multicystic kidney / renal dysplasia - Nephroblastoma / Wilms tumor - Obsessive-compulsive disorder - Short neck - Sleep and vigilance disorders - Tics / stereotypias - Tracheomalacia / tracheobronchomalacia