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Lethal acantholytic epidermolysis bullosa
1 OMIM reference -
2 associated genes
117 connected diseases
10 signs/symptoms
Disease Type of connection
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Keratosis palmoplantaris striata
Idiopathic pulmonary fibrosis
Naxos disease
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Familial isolated dilated cardiomyopathy
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Estrogen resistance syndrome
Spinocerebellar ataxia type 12
Early-onset autosomal dominant Alzheimer disease
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Scapuloperoneal amyotrophy
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Dedifferentiated liposarcoma
Frontotemporal dementia with motor neuron disease
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Short stature due to growth hormone qualitative anomaly
Well-differentiated liposarcoma
Generalized junctional epidermolysis bullosa, non-Herlitz type
Localized junctional epidermolysis bullosa, non-Herlitz type
Epidermolysis bullosa simplex with pyloric atresia
APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial gastric cancer
Gardner syndrome
Gastric linitis plastica
Turcot syndrome with polyposis
Diffuse palmoplantar keratoderma with painful fissures
Focal palmoplantar keratoderma with joint keratoses
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Split hand-split foot malformation
Hepatocellular carcinoma, childhood-onset
Epidermolysis bullosa simplex due to plakophilin deficiency
Annular epidermolytic ichthyosis
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Ichthyosis hystrix of Curth-Macklin
Pulverulent cataract
Exfoliative ichthyosis
Giant cell glioblastoma
EEM syndrome
Hypotrichosis with juvenile macular degeneration
Adult-onset distal myopathy due to VCP mutation
Hereditary hypotrichosis with recurrent skin vesicles
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia - Paget disease of bone
Common variable immunodeficiency
Leber congenital amaurosis
Senior-Loken syndrome
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Late-onset junctional epidermolysis bullosa
Aicardi-Goutières syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2T
Bruck syndrome
Burkitt lymphoma
Cabezas syndrome
Chilblain lupus
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Constitutional mismatch repair deficiency syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial pancreatic carcinoma
Familial prostate cancer
Glycogen storage disease due to muscle beta-enolase deficiency
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary nonpolyposis colon cancer
Hereditary site-specific ovarian cancer syndrome
Muir-Torre syndrome
Muscle-eye-brain disease
Non-polyposis Turcot syndrome
Papillary or follicular thyroid carcinoma
Pontocerebellar hypoplasia type 1
Precursor T-cell acute lymphoblastic leukemia
Primary peritoneal carcinoma
Pseudohypoaldosteronism type 2E
Pyogenic arthritis - pyoderma gangrenosum - acne
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Fuchs endothelial corneal dystrophy
Pachyonychia congenita
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Autoimmune lymphoproliferative syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive nonsyndromic intellectual deficit
Dubin-Johnson syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Hypotrichosis simplex
Junctional epidermolysis bullosa - pyloric atresia
Reticular dysgenesis

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

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: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C535493

Gene symbol UniProt reference OMIM reference
DSP P15924125647
JUP P14923173325
Very frequent
- Absent / small fingernails / anonychia of hands
- Alopecia
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Premature eruption of teeth / natal teeth
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

- Cardiomyopathy / hypertrophic / dilated
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis