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Schöpf-Schulz-Passarge syndrome
1 OMIM reference -
1 associated gene
3 connected diseases
11 signs/symptoms
Disease Type of connection
Autosomal recessive hypohidrotic ectodermal dysplasia
Odonto-onycho-dermal dysplasia
Oligodontia
Synonym(s):
- Eccrine tumors-ectodermal dysplasia
- Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis
- Palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis
- Palmoplantar keratoderma - cystic eyelids - hypodontia - hypotrichosis
- SSPS

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare oncologic 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: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
WNT10A Q9GZT5606268
Very frequent
- Autosomal recessive inheritance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Absent / decreased / thin eyebrows
- Alopecia
- Anodontia / oligodontia / hypodontia
- Anomalies of eyelids, eyelashes and lacrimal system
- Premature lost of decidious teeth

Occasional
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)