Marfanoid-progeroid-lipodystrophy syndrome

Preferred Label : Marfanoid-progeroid-lipodystrophy syndrome;

Symbol : MFLS;

CISMeF acronym : MFLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marfan-progeroid-lipodystrophy syndrome; Marfanoid-progeroid syndrome; Marfan lipodystrophy syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin-1 gene (FBN1, 134797.0064);

Prefixed ID : #616914;

Details

Origin ID

616914;

UMLS CUI

C4310796;

Currated CISMeF NLP mapping
- Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) [SNOMED CT concept]
- Progeroid and marfanoid aspect-lipodystrophy syndrome [ORDO Disease]
Genes related to phenotype
- Fibrillin 1 [OMIM gene]
HPO term(s)
- Absence of subcutaneous fat [HPO term]
- Aortic root aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Bruising susceptibility [HPO term]
- Craniosynostosis [HPO term]
- Deeply set eye [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dural ectasia [HPO term]
- Ectopia lentis [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized lipodystrophy [HPO term]
- High myopia [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hydrocephalus [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hypertension [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Kyphosis [HPO term]
- Lipoatrophy [HPO term]
- Long fingers [HPO term]
- Macrocephaly [HPO term]
- Melanocytic nevus [HPO term]
- Mitral valve prolapse [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Narrow nasal ridge [HPO term]
- Narrow nose [HPO term]
- Oligohydramnios [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Pes valgus [HPO term]
- Premature birth [HPO term]
- Progeroid facial appearance [HPO term]
- Prominent forehead [HPO term]
- Prominent nasal bridge [HPO term]
- Proptosis [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Reduced visual acuity [HPO term]
- Retrognathia [HPO term]
- Scaphocephaly [HPO term]
- Scapular winging [HPO term]
- Tall stature [HPO term]
- Triangular face [HPO term]
Not associated HPO term(s)
- Neurodevelopmental abnormality [HPO term]
ORDO concept(s)
- Progeroid and marfanoid aspect-lipodystrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progeroid and marfanoid aspect-lipodystrophy syndrome [ORDO Disease]

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