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Skin fragility-woolly hair-palmoplantar keratoderma syndrome
1 OMIM reference -
1 associated gene
62 connected diseases
No signs/symptoms info
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
Lethal acantholytic epidermolysis bullosa
Keratosis palmoplantaris striata
Idiopathic pulmonary fibrosis
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Amyotrophic lateral sclerosis
Familial isolated dilated cardiomyopathy
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Naxos disease
Epidermolysis bullosa simplex due to plakophilin deficiency
Annular epidermolytic ichthyosis
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Ichthyosis hystrix of Curth-Macklin
Pulverulent cataract
Scapuloperoneal amyotrophy
Exfoliative ichthyosis
Adult-onset distal myopathy due to VCP mutation
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
Spinocerebellar ataxia type 12
Generalized junctional epidermolysis bullosa, non-Herlitz type
Late-onset junctional epidermolysis bullosa
Localized junctional epidermolysis bullosa, non-Herlitz type
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Burkitt lymphoma
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Frontotemporal dementia with motor neuron disease
Glycogen storage disease due to muscle beta-enolase deficiency
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Papillary or follicular thyroid carcinoma
Pontocerebellar hypoplasia type 1
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Pyogenic arthritis - pyoderma gangrenosum - acne
Short stature due to growth hormone qualitative anomaly
Well-differentiated liposarcoma
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
Pachyonychia congenita
Autoimmune lymphoproliferative syndrome
Autosomal recessive nonsyndromic intellectual deficit
Early-onset autosomal dominant Alzheimer disease
Reticular dysgenesis
- Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

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: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
DSP P15924125647
No signs/symptoms info available.