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Estrogen resistance syndrome

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

PROTEIN INTERACTIONS: 1

MULIBREY nanism

1 OMIM reference -
1 associated gene
9 signs/symptoms

Estrogen resistance syndrome

MULIBREY nanism

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ESR1	(0.63)	TRIM37

Citations in the biomedical literature:

Estrogen resistance syndrome		MULIBREY nanism
	Synonym(s): (no synonyms)		Synonym(s): - MULIBREY dwarfism - Muscle-liver-brain-eye nanism - Perheentupa syndrome - Pericardial constriction - growth failure

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: elderly Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C538604 / D050336

MULIBREY nanism
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Areflexia / hyporeflexia - Autosomal recessive inheritance - Intrauterine growth retardation - Macrocephaly / macrocrania / megalocephaly / megacephaly - Short stature / dwarfism / nanism - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy Frequent - Broad nasal root - Hepatomegaly / liver enlargement (excluding storage disease)
Estrogen resistance syndrome
(no data available)