Rothmund-Thomson Syndrome, Type 2 (RTS2)

Alias:
Rothmund-Thomson Syndrome
Rts
Poikiloderma of Rothmund-Thomson
Rothmund-Thomson Syndrome Type 2
Rts2
Congenital Poikiloderma
Poikiloderma Congenitale of Rothmund-Thomson
Poikiloderma of Rothmund-Thomson Type 2
Poikiloderma Atrophicans and Cataract
Erythrokeratodermia Variabilis
Rothmund-Thomson Syndrome 2
Poikiloderma Congenitale
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Rothmund-Thomson Syndrome, Type 2, also known as rothmund-thomson syndrome, is related to poikiloderma with neutropenia and rapadilino syndrome, and has symptoms including exanthema An important gene associated with Rothmund-Thomson Syndrome, Type 2 is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are Gene expression (Transcription) and Infectious disease. The drugs Orange and Hormones have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are erythema and skin rash
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
33
335
66

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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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