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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
23 signs/symptoms
Craniopharyngioma
Scalp-ear-nipple syndrome

BRAF KCTD1
CTNNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.68)
KCTD1



Citations in the biomedical literature:


Craniopharyngioma
BRAF CTNNB1
Scalp-ear-nipple syndrome
KCTD1



Craniopharyngioma
Scalp-ear-nipple syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Finlay-Marks syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
No OMIM references
1 MeSH reference: D003397
External references:
1 OMIM reference -
1 MeSH reference: C536623

Scalp-ear-nipple syndrome

Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Antihelix anomaly
- Antitragus abnormal
- Autosomal dominant inheritance
- Hypoplastic / absent nipples
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Small / hypoplastic / adherent / absent ear lobe
- Tragus abnormal / absent

Frequent
- Abnormal fingernails
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Cataract / lens opacification
- Chronic arterial hypertension
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Insulin-dependent / type 1 diabetes
- Recurrent urinary infections
- Structural anomalies of the kidney and the urinary tract
- Telecanthus / canthal dystopy

Occasional
- Coloboma of the eyelid
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Renal / kidney anomalies
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter


Craniopharyngioma

(no data available)