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1 OMIM reference -
2 associated genes
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
4 OMIM references -
4 associated genes
45 signs/symptoms
Severe generalized recessive dystrophic epidermolysis bullosa
Autosomal recessive malignant osteopetrosis

COL7A1 CLCN7
MMP1 SNX10
TCIRG1
TNFSF11


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Severe generalized recessive dystrophic epidermolysis bullosa
COL7A1 MMP1
Autosomal recessive malignant osteopetrosis
CLCN7 SNX10 TCIRG1 TNFSF11



Severe generalized recessive dystrophic epidermolysis bullosa
Autosomal recessive 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

Synonym(s):
- Infantile malignant osteopetrosis

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

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

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

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


Severe generalized recessive dystrophic epidermolysis bullosa
Autosomal recessive malignant osteopetrosis

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


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