Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
12 OMIM references -
13 associated genes
36 signs/symptoms
Severe generalized recessive dystrophic epidermolysis bullosa
Walker-Warburg syndrome

COL7A1 B3GALNT2
MMP1 B3GNT1
COL4A1
FKRP
FKTN
ISPD
LARGE
POMGNT1
POMGNT2
POMK
POMT1
POMT2
TMEM5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL7A1
(0.75)
COL4A1



Citations in the biomedical literature:


Severe generalized recessive dystrophic epidermolysis bullosa
COL7A1 MMP1
Walker-Warburg syndrome
B3GALNT2 B3GNT1 COL4A1 FKRP FKTN ISPD
LARGE POMGNT1 POMGNT2 POMK POMT1 POMT2
TMEM5



Severe generalized recessive dystrophic epidermolysis bullosa
Walker-Warburg syndrome

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):
- HARD syndrome
- Hydrocephalus - agyria - retinal dysplasia
- Hydrocephalus-agyria-retinal dysplasia syndrome
- WWS

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic 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:
12 OMIM references -
1 MeSH reference: D058494


COMMON
SIGNS
- Autosomal recessive inheritance


Severe generalized recessive dystrophic epidermolysis bullosa
Walker-Warburg syndrome

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
- 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


Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Areflexia / hyporeflexia
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Dilated cerebral ventricles without hydrocephaly
- Early death / lethality
- Hydrocephaly
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinal detachment
- Retinal / chorioretinal dysplasia / dystrophy
- Talipes-valgus

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Corneal clouding / opacity / vascularisation
- Corpus callosum / septum pellucidum total / partial agenesis
- Dandy-Walker anomaly
- Glaucoma
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micropenis / small penis / agenesis
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Occasional
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- Encephalocele / exencephaly
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Low set ears / posteriorly rotated ears
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Microcornea
- Prominent / bat ears
- Seizures / epilepsy / absences / spasms / status epilepticus