Hydrolethalus Syndrome 1 (HLS1)

Alias:
Hydrolethalus Syndrome
Hls1
Hydrolethalus
Hydrolethalus Syndrome, Type 1
Salonen-Herva-Norio Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hydrolethalus Syndrome 1, also known as hydrolethalus syndrome, is related to hydrolethalus syndrome 2 and acrocallosal syndrome. An important gene associated with Hydrolethalus Syndrome 1 is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include heart and adrenal gland, and related phenotypes are agenesis of corpus callosum and hydrocephalus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-9/100000
32
145
15

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

Name
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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