ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
30 signs/symptoms

Phakomatosis pigmentokeratotica

Noonan syndrome-like disorder with loose anagen hair


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HRAS	(0.96)	SHOC2

Citations in the biomedical literature:

Phakomatosis pigmentokeratotica		Noonan syndrome-like disorder with loose anagen hair

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: unknown		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references 1 MeSH reference: C537893		External references: 1 OMIM reference - No MeSH references

Noonan syndrome-like disorder with loose anagen hair
	Very frequent - Delayed bone age - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Low hair line (back) - Low set ears / posteriorly rotated ears - Short stature / dwarfism / nanism - Short / small nose - Webbed neck / pterygium colli Frequent - Absent / decreased / thin eyebrows - Anteverted nares / nostrils - Broad nose / nasal bridge - Cardiomyopathy / hypertrophic / dilated - Epicanthic folds - Hydrocephaly - Long / large ear - Pectus excavatum - Philtrum deeply grooved - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches Occasional - Elbow anomalies(excluding luxation) - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intervertebral disk anomaly - Multiple caries - Short hand / brachydactyly - Thick lips - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails - Thin / retracted lips - Undescended / ectopic testes / cryptorchidia / unfixed testes
Phakomatosis pigmentokeratotica
(no data available)