ODCs

Click node...

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

5 associated genes
17 signs/symptoms

PROTEIN INTERACTIONS: 1

Scalp-ear-nipple syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Scalp-ear-nipple syndrome

HESX1	(UniProt - OMIM)	KCTD1	(UniProt - OMIM)
LHX3	(UniProt - OMIM)
LHX4	(UniProt - OMIM)
POU1F1	(UniProt - OMIM)
PROP1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Hypothyroidism due to deficient transcription factors involved in pituitary development or function		Scalp-ear-nipple syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Finlay-Marks syndrome

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

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

	Epidemiological data: (no data available)		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 No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536623

Hypothyroidism due to deficient transcription factors involved in pituitary development or function		Scalp-ear-nipple syndrome
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Sleep and vigilance disorders - Umbilical hernia Frequent - Cleft lip and palate - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Intellectual deficit / mental / psychomotor retardation / learning disability - Septo-optic dysplasia - Short stature / dwarfism / nanism		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