Mulibrey nanism

Preferred Label : Mulibrey nanism;

Symbol : MUL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscle-liver-brain-eye nanism; Perheentupa syndrome; Pericardial constriction and growth failure;

Description : Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tripartite motif-containing 37 gene (TRIM37, 605073.0001);

Neoplasia : Wilms tumor;

Prefixed ID : #253250;

Details

Origin ID

253250;

UMLS CUI

C0524582;

Automatic exact mappings (from CISMeF team)
- MULIBREY nanism [ICD-11 More detail]
Currated CISMeF NLP mapping
- Mulibrey Nanism [NCIt concept]
- Mulibrey dwarfism [PASCAL descriptor]
- Mulibrey nanism [ORDO Disease]
- Mulibrey nanism syndrome (disorder) [SNOMED CT concept]
- Pericardial constriction with growth failure [MeSH concept]
- mulibrey nanism [DO Concept]
- mulibrey nanism [MeSH Descriptor]
- mulibrey nanism [MeSH concept]
- mulibrey nanism syndrome [SNOMED Notion]
- pericardial constriction with growth failure [MeSH Supplementary Concept]
DO Cross reference
- mulibrey nanism [DO Concept]
Genes related to phenotype
- Tripartite motif-containing protein 37 [OMIM gene]
HPO term(s)
- Absent frontal sinuses [HPO term]
- Absent of small frontal sinus [HPO term]
- Ascites [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad and depressed nasal bridge [HPO term]
- Cardiomegaly [HPO term]
- Congestive heart failure [HPO term]
- Corneal dystrophy [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Dysarthria [HPO term]
- Enamel hypoplasia [HPO term]
- Frontal bossing [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- High pitched voice [HPO term]
- Hydrops fetalis [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypoplastic frontal sinuses [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- J-shaped sella turcica [HPO term]
- Microglossia [HPO term]
- Myocardial fibrosis [HPO term]
- Nephroblastoma [HPO term]
- Nevus flammeus [HPO term]
- Pericardial constriction [HPO term]
- Pigmentary retinopathy [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Strabismus [HPO term]
- Thickened cortex of long bones [HPO term]
- Triangular face [HPO term]
- Ventriculomegaly [HPO term]
- Weak voice [HPO term]
- Weak, high-pitched voice [HPO term]
- Wide nasal bridge [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Mulibrey nanism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mulibrey Nanism [NCIt concept]
- Mulibrey dwarfism [PASCAL descriptor]
- Mulibrey nanism syndrome (disorder) [SNOMED CT concept]
- mulibrey nanism [MeSH Descriptor]
- mulibrey nanism [MeSH concept]
- mulibrey nanism [DO Concept]
- mulibrey nanism syndrome [SNOMED Notion]

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