ODCs

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Autosomal recessive malignant osteopetrosis

4 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Severe generalized recessive dystrophic epidermolysis bullosa

1 OMIM reference -
2 associated genes
35 signs/symptoms

Autosomal recessive malignant osteopetrosis

Severe generalized recessive dystrophic epidermolysis bullosa

CLCN7	(UniProt - OMIM)	COL7A1	(UniProt - OMIM)
SNX10	(UniProt - OMIM)	MMP1	(UniProt - OMIM)
TCIRG1	(UniProt - OMIM)
TNFSF11	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TNFSF11	(0.52)	MMP1

Citations in the biomedical literature:

Autosomal recessive malignant osteopetrosis		Severe generalized recessive dystrophic epidermolysis bullosa
	Synonym(s): - Infantile malignant osteopetrosis		Synonym(s): - Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis - Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type - RDEB generalisata gravis - RDEB, Hallopeau-Siemens type - RDEB-sev gen - Severe generalized RDEB

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Anaemia - Autosomal recessive inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Visual loss / blindness / amblyopia

Autosomal recessive malignant osteopetrosis		Severe generalized recessive dystrophic epidermolysis bullosa
	Very frequent - Abnormal hair texture / hair dysplasia - Abnormal VEP / Visual evoked potential - Anomalies of the ribs - Bone pain - Bowed diaphysis / diaphyses / long bones - Craniostenosis / craniosynostosis / sutural synostosis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Ecchymoses - Epiphyseal anomaly - Fever / chilling - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Lymphadenopathy / polyadenopathies - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metabolic anomalies - Metaphyseal anomaly - Movement disorder - Mutiple fractures / bone fragility - Narrow rib cage / thorax - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Osteosclerosis / osteopetrosis / bone condensation - Pallor - Premature lost of decidious teeth - Purpura / petichiae - Repeat respiratory infections - Splenomegaly - Tremor Frequent - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy Occasional - Apnea / sleep apnea - Cranial nerves palsy - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hypocalcemia - Hypophosphatemia - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Pulmonary hypertension - Pulmonary valve anomaly / incompetence / insufficiency / regurgitation		Very frequent - Abnormal fingernails - Abnormal scarring / cheloids / hypertrophic scars - Abnormal toenails - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Ankyloglossia / lingual synechiae - Anus / rectum anomalies - Constipation - Enanthema / aphtosa / aphta / leukoplakia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Follicular / erythematous / edematous papules / milium - Microstomia / little mouth - Multiple caries - Pruritus / itching - Skin hypoplasia / aplasia / atrophy - Tracheo-esophageal fistula / esophageal atresia / stenosis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Alopecia - Anomalies of hands - Corneal ulceration / perforation - Foot anomalies - Late puberty / hypogonadism / hypogenitalism - Musculo-tendinous retractions - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Anomalies of eyelids, eyelashes and lacrimal system - Blepharitis / eyelid inflammation - Ectropion / entropion / eyelid eversion - Mild visual loss / impaired visual acuity