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Noonan syndrome-like disorder with loose anagen hair

1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

1 OMIM reference -
1 associated gene
8 signs/symptoms

Noonan syndrome-like disorder with loose anagen hair

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

SHOC2

(UniProt - OMIM)

APP

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHOC2	(0.56)	APP

Citations in the biomedical literature:

Noonan syndrome-like disorder with loose anagen hair		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	Synonym(s): (no synonyms)		Synonym(s): - HCHWA, Dutch type - HCHWA-D

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C537944 / D028243

Noonan syndrome-like disorder with loose anagen hair		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	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		Very frequent - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline Frequent - Intracranial / cerebral calcifications - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke Occasional - Early death / lethality