ODCs

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4 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Osteogenesis imperfecta type 2

Porphyria due to ALA dehydratase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LEPRE1	(0.63)	ALAD

Citations in the biomedical literature:

Osteogenesis imperfecta type 2		Porphyria due to ALA dehydratase deficiency
	Synonym(s): - Lethal osteogenesis imperfecta - OI type 2		Synonym(s): - ALAD porphyria - Porphyria due to ALAD deficiency - Porphyria due to delta-aminolevulinate dehydratase deficiency - Porphyria of Doss

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

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

	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 dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Porphyria due to ALA dehydratase deficiency
	Very frequent - Acute abdominal pain / colic - Autosomal recessive inheritance - Cutaneous rash - Hirsutism / hypertrichosis / Increased body hair - Irregular / in bands / reticular skin hyperpigmentation - Irregular / patchy skin hypopigmentation - Psychic / behavioural troubles - Skin photosensitivity - Skin tumors / lumps / epidermal cysts - Thin skin - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Acute palsy - Hemiplegia / diplegia / hemiparesia / limb palsy
Osteogenesis imperfecta type 2
(no data available)