Hennekam Lymphangiectasia-Lymphedema Syndrome 1 (HKLLS1)

Alias:
Hennekam Lymphangiectasia-Lymphedema Syndrome
Hklls1
Lymphangiectasia-Lymphedema, Hennekam Syndrome, Type 1
Hennekam Lymphangiectasia Lymphedema Syndrome
Lymphatic Dysplasia, Generalized
Generalized Lymphatic Dysplasia
Hennekam Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hennekam Lymphangiectasia-Lymphedema Syndrome 1, also known as hennekam lymphangiectasia-lymphedema syndrome, is related to lymphatic malformation 6 and menke-hennekam syndrome 1, and has symptoms including seizures An important gene associated with Hennekam Lymphangiectasia-Lymphedema Syndrome 1 is CCBE1 (Collagen And Calcium Binding EGF Domains 1). Affiliated tissues include kidney and thyroid, and related phenotypes are depressed nasal bridge and hypertelorism
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
8
12

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
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Score
Mutations
No data available

Related Drugs

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Status
Phase
No data available

Disease Model

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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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