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1 OMIM reference -
2 associated genes
35 signs/symptoms
PROTEIN INTERACTIONS: 1
6 associated genes
No signs/symptoms info
Severe generalized recessive dystrophic epidermolysis bullosa
Fetal and neonatal alloimmune thrombocytopenia

COL7A1 CD109
MMP1 GP1BA
GP1BB
ITGA2
ITGA2B
ITGB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MMP1
(0.88)
ITGA2



Citations in the biomedical literature:


Severe generalized recessive dystrophic epidermolysis bullosa
COL7A1 MMP1
Fetal and neonatal alloimmune thrombocytopenia
CD109 GP1BA GP1BB ITGA2 ITGA2B ITGB3



Severe generalized recessive dystrophic epidermolysis bullosa
Fetal and neonatal alloimmune thrombocytopenia

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):
- NAIT

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Certain conditions originating in the perinatal period -

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:
(no data available)

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

Severe generalized recessive dystrophic epidermolysis bullosa

Very frequent
- Abnormal fingernails
- Abnormal scarring / cheloids / hypertrophic scars
- Abnormal toenails
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Anaemia
- Ankyloglossia / lingual synechiae
- Anus / rectum anomalies
- Autosomal recessive inheritance
- Constipation
- Enanthema / aphtosa / aphta / leukoplakia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- 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
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- 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
- Visual loss / blindness / amblyopia


Fetal and neonatal alloimmune thrombocytopenia

(no data available)