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Thyroid hypoplasia

2 OMIM references -
6 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Familial multiple nevi flammei

1 OMIM reference -
1 associated gene
25 signs/symptoms

Thyroid hypoplasia

Familial multiple nevi flammei

FOXE1	(UniProt - OMIM)		GNAQ	(UniProt - OMIM)
NKX2-1	(UniProt - OMIM)
NKX2-5	(UniProt - OMIM)
PAX8	(UniProt - OMIM)
SLC26A4	(UniProt - OMIM)
TSHR	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSHR	(0.52)	GNAQ

Citations in the biomedical literature:

Thyroid hypoplasia		Familial multiple nevi flammei
	Synonym(s): (no synonyms)		Synonym(s): - Familial multiple port-wine stains

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic 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: (no data available)

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Thyroid hypoplasia		Familial multiple nevi flammei
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Ectopic / agenesis / dysgenesis / hypoplastic thyroid - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic Frequent - Short stature / dwarfism / nanism		Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Irregular / in bands / reticular skin hyperpigmentation - Macules Frequent - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium Occasional - Anomalies of bones / skeletal anomalies - Anomalies of spine, vertebrae and pelvis - Cardiac rhythm disorder / arrhythmia - Chronic skin infection / ulcerations / ulcers / cancrum - Cranial nerve anomalies - Cutaneous edema - Glaucoma - Hemiplegia / diplegia / hemiparesia / limb palsy - Intracranial / cerebral calcifications - Intracranial / cerebral / meningeal hemorrhage - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Lower limb segmental anomalies - Pulmonary thromboembolism - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Upper limb segmental anomalies - Varices / varicous veins / venous insufficiency - Venous thrombosis / phlebitis / thrombophlebitis