Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD)

Alias:
Child Syndrome
Child Nevus
Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity of Limbs
Congenital Hemidysplasia with Ichthyosiform Nevus and Limbs Defects
Child
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects, also known as child syndrome, is related to greenberg dysplasia and smith-lemli-opitz syndrome. An important gene associated with Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like), and among its related pathways/superpathways are Metabolism and Metabolism of steroids. The drugs Insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are congenital ichthyosiform erythroderma and epiphyseal stippling
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
<1/1000000
16
99
15

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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CAS Number
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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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IF
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