Progeroid Short Stature with Pigmented Nevi

Alias:
Mulvihill-Smith Syndrome
Progeria-Short Stature-Pigmented Nevi Syndrome
Progeria Short Stature Pigmented Nevi
Cockayne Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Progeroid Short Stature with Pigmented Nevi, also known as mulvihill-smith syndrome, is related to clark-baraitser syndrome and microcephaly, and has symptoms including unspecified visual loss The drugs Sirolimus and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include skin and thalamus, and related phenotypes are osteopenia and hyperpigmented nevi

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
<1/1000000
--
--
9

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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