Tietz Albinism-Deafness Syndrome (TADS)

Alias:
Tietz Syndrome
Hypopigmentation/deafness of Tietz
Albinism-Deafness of Tietz
Tietze's Syndrome
Hypopigmentation-Deafness Syndrome
Hypopigmentation-Hearing Loss Syndrome
Costochondritis
Tietze Syndrome
Tads
Abnormality of the Costochondral Junction
Albinism and Complete Nerve Deafness
Costochondral Junction Syndrome
Slipping Rib Syndrome
Costal Chondritis
Costalchondritis
Tietze's Disease
Tietz's Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tietz Albinism-Deafness Syndrome, also known as tietz syndrome, is related to mend syndrome and sensorineural hearing loss. An important gene associated with Tietz Albinism-Deafness Syndrome is MITF (Melanocyte Inducing Transcription Factor), and among its related pathways/superpathways are Neural crest differentiation and Development EPO-induced Jak-STAT pathway. Affiliated tissues include skin and eye, and related phenotypes are hearing impairment and hypopigmentation of hair
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
17
566
26

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
Year
IF
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