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MULIBREY nanism

1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Estrogen resistance syndrome

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

MULIBREY nanism

Estrogen resistance syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

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

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

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

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

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

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)