Trichothiodystrophy 4, Nonphotosensitive (TTD4)

Alias:
Amish Brittle Hair Brain Syndrome
Trichothiodystrophy, Nonphotosensitive 1
Hair-Brain Syndrome
Bids Syndrome
Ttd4
Trichothiodystrophy-Neurocutaneous Syndrome
Nonphotosensitive Trichothiodystrophy 4
Trichorrhexis Nodosa Syndrome
Pollitt Syndrome
Ttdn1
Abhs
Trichothiodystrophy, Type 4, Nonphotosensitive
Trichothiodystrophy 4, Non-Photosensitive
Trichothiodystrophy Non-Photosensitive 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Trichothiodystrophy 4, Nonphotosensitive, also known as amish brittle hair brain syndrome, is related to trichothiodystrophy 1, photosensitive and trichothiodystrophy, and has symptoms including koilonychia An important gene associated with Trichothiodystrophy 4, Nonphotosensitive is MPLKIP (M-Phase Specific PLK1 Interacting Protein). Affiliated tissues include brain and skin, and related phenotypes are nystagmus and short nose
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
6
28
18

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
Journal
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IF
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