ODCs

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1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 1

4 OMIM references -
5 associated genes
No signs/symptoms info

Scalp-ear-nipple syndrome

Combined pituitary hormone deficiencies, genetic forms


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KCTD1	(0.63)	PROP1

Citations in the biomedical literature:

Scalp-ear-nipple syndrome		Combined pituitary hormone deficiencies, genetic forms
	Synonym(s): - Finlay-Marks syndrome		Synonym(s): - Familial congenital hypopituitarism - Multiple pituitary hormone deficiencies, genetic forms

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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		Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536623		External references: 4 OMIM references - No MeSH references

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
Combined pituitary hormone deficiencies, genetic forms
(no data available)