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Estrogen resistance syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
44 signs/symptoms

Estrogen resistance syndrome

CHILD syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ESR1	(0.63)	NSDHL

Citations in the biomedical literature:

Estrogen resistance syndrome		CHILD syndrome
	Synonym(s): (no synonyms)		Synonym(s): - CHILD nevus - Congenital hemidysplasia with ichthyosiform nevus and limbs defects

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): (no data available)		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: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

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

CHILD syndrome
	Very frequent - Absent pectoral muscles - Anomalies of bones / skeletal anomalies - Anomalies of the ribs - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Atrial septal defect / interauricular communication - Bone / osseous hypoplasia - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Cutaneous rash - Cutaneous / amniotic bands / webbing of joints - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hypoplastic left heart / ventricle - Ichthyosis / ichthyosiform dermatitis - Intellectual deficit / mental / psychomotor retardation / learning disability - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Thin skin - Thyroid anomalies - Upper limb transverse anomaly (excluding hand) - X-linked dominant inheritance Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy Occasional - Abnormal / polycystic ovaries - Adrenal glands anomalies - Agenesis / hypoplasia / aplasia of kidneys - Alopecia - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Cardiac valvulopathy - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Cranial nerve anomalies - Decreased body hair / axillar / pubic hairlessness - Dry / squaly skin / exfoliation - Dysplastic / thick / grooved fingernails - Epiphyseal anomaly - Hearing loss / hypoacusia / deafness - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Intrauterine growth retardation - Kyphosis - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Meningocele - Myelomeningocele - Nails anomalies - Sensitive trouble / deficit - Uterine / uterus / Fallopian tubes anomalies - Ventricular septal defect / interventricular communication
Estrogen resistance syndrome
(no data available)