Progeroid short stature with pigmented nevi

Preferred Label : Progeroid short stature with pigmented nevi;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mulvihill-smith syndrome;

Description : Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by Yagihashi et al., 2009).;

Inheritance : Autosomal recessive;

Neoplasia : Development of tumors in adulthood;

Prefixed ID : %176690;

Details

Origin ID

176690;

UMLS CUI

C1261128;

Automatic exact mappings (from CISMeF team)
- de Barsy syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Progeria short stature pigmented nevi [MeSH concept]
- Progeria-short stature-pigmented nevi syndrome [ORDO Disease]
- Progeroid short stature with pigmented nevi (disorder) [SNOMED CT concept]
- progeria short stature pigmented nevi [MeSH Supplementary Concept]
HPO term(s)
- Abnormal joint morphology [HPO term]
- Allergic conjunctivitis [HPO term]
- Allergic rhinitis [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Cataract [HPO term]
- Chordee [HPO term]
- Delayed puberty [HPO term]
- Diabetes mellitus [HPO term]
- Dwarfism, 'low birth weight' type [HPO term]
- Esophageal ulceration [HPO term]
- High pitched voice [HPO term]
- High-frequency deafness [HPO term]
- High-frequency hearing impairment [HPO term]
- Hypodontia [HPO term]
- Hypospadias [HPO term]
- Immunodeficiency [HPO term]
- Impaired T cell function [HPO term]
- Insomnia [HPO term]
- Intellectual disability [HPO term]
- Irregular dentition [HPO term]
- Lack of facial subcutaneous fat [HPO term]
- Numerous nevi [HPO term]
- Premature ovarian insufficiency [HPO term]
- Recurrent viral infections [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Thoracic scoliosis [HPO term]
- Visual loss [HPO term]
- Vomiting [HPO term]
- obsolete Severe viral infections [HPO term]
ORDO concept(s)
- Progeria-short stature-pigmented nevi syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progeria short stature pigmented nevi [MeSH concept]
- Progeria-short stature-pigmented nevi syndrome [ORDO Disease]
- Progeroid short stature with pigmented nevi (disorder) [SNOMED CT concept]
- progeria short stature pigmented nevi [MeSH Supplementary Concept]

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