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1 OMIM reference -
2 associated genes
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
1 associated gene
22 signs/symptoms
Severe generalized recessive dystrophic epidermolysis bullosa
Stickler syndrome type 1

COL7A1 COL2A1
MMP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MMP1
(0.52)
COL2A1



Citations in the biomedical literature:


Severe generalized recessive dystrophic epidermolysis bullosa
COL7A1 MMP1
Stickler syndrome type 1
COL2A1



Severe generalized recessive dystrophic epidermolysis bullosa
Stickler syndrome type 1

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):
(no synonyms)

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
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Visual loss / blindness / amblyopia


Severe generalized recessive dystrophic epidermolysis bullosa
Stickler syndrome type 1

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


Very frequent
- Autosomal dominant inheritance
- Cataract / lens opacification
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Long philtrum
- Myopia
- Retinal detachment
- Short / small nose
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Frequent
- Articular / joint pain / arthralgia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Epiphyseal anomaly
- Epiphyseal vertebral anomaly
- Hyperextensible joints / articular hyperlaxity
- Marfanoid morphotype
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Osteoarthritis
- Platyspondyly
- Proptosis / exophthalmos
- Sensorineural deafness / hearing loss

Occasional
- Intellectual deficit / mental / psychomotor retardation / learning disability