Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome (EEMS)

Alias:
Eem Syndrome
Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy Syndrome
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy
Eems
Dysplasia, Ectodermal, Ectrodactyly, and Macular Dystrophy
Ectodermal Dysplasia Ectrodactyly Macular Dystrophy
Ohdo-Hirayama-Terawaki Syndrome
Albrectsen-Svendsen Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome, also known as eem syndrome, is related to hypotrichosis and hypotrichosis, congenital, with juvenile macular dystrophy. An important gene associated with Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome is CDH3 (Cadherin 3), and among its related pathways/superpathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include skin and eye, and related phenotypes are abnormality of retinal pigmentation and retinopathy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
9
45
6

Medical Symptom

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

Gene & Mutation

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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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