Log In|Sign Up
ENMicrophthalmia with Limb Anomalies (MLA)
Alias:
Waardenburg Anophthalmia Syndrome
Ophthalmoacromelic Syndrome
Oas
Anophthalmia-Syndactyly Syndrome
Anophthalmia-Syndactyly
Mla
Anophthalmos with Limb Anomalies
Anophthalmos-Limb Anomalies Syndrome
Microphthalmia, with Limb Anomalies
Anophthalmia-Waardenburg Syndrome
Anophthalmia Waardenburg Syndrome
Syndactyly-Anophthalmos Syndrome
Ophthalmo-Acromelic Syndrome
Ophthalmo Acromelic Syndrome
Favorite
Microphthalmia with Limb Anomalies, also known as waardenburg anophthalmia syndrome, is related to encephalitis and tick-borne encephalitis. An important gene associated with Microphthalmia with Limb Anomalies is SMOC1 (SPARC Related Modular Calcium Binding 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include eye and kidney, and related phenotypes are frontal bossing and synostosis of joints
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
