Kallmann Syndrome

Alias:
Hypogonadism with Anosmia
Congenital Hypogonadotropic Hypogonadism with Anosmia
Olfacto-Genital Pathological Sequence
Kallman's Syndrome
Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism-Anosmia Syndrome
Hypogonadotropic Hypogonadism and Anosmia
Familial Hypogonadism with Anosmia
Anosmic Hypogonadism
Kallman Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Kallmann Syndrome, also known as hypogonadism with anosmia, is related to hypogonadotropic hypogonadism 1 with or without anosmia and hypogonadotropic hypogonadism 2 with or without anosmia. An important gene associated with Kallmann Syndrome is PROKR2 (Prokineticin Receptor 2), and among its related pathways/superpathways are Signal Transduction and NF-KappaB Family Pathway. The drugs Zinc cation and Urofollitropin have been mentioned in the context of this disorder. Affiliated tissues include pituitary and breast, and related phenotypes are delayed puberty and hypogonadotropic hypogonadism
Related ID:
MESH:D017436

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
XL
XLD
AR
Child
1-9/100000
139
1342
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
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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