Pituitary Hormone Deficiency, Combined, 3 (CPHD3)

Alias:
Cphd3
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Non-Acquired Combined Pituitary Hormone Deficiency-Deafness-Rigid Cervical Spine Syndrome
Non-Acquired Combined Pituitary Hormone Deficiency with Spine Abnormalities
Pituitary Hormone Deficiency, Combined, with Rigid Cervical Spine
Combined Pituitary Hormone Deficiency with Rigid Cervical Spine
Deafness, Sensorineural, with Pituitary Dwarfism
Hormone Deficiency, Pituitary, Combined, Type 3
Sensorineural Deafness with Pituitary Dwarfism
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pituitary Hormone Deficiency, Combined, 3, also known as cphd3, is related to non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-sp and pituitary hormone deficiency, combined 1. An important gene associated with Pituitary Hormone Deficiency, Combined, 3 is LHX3 (LIM Homeobox 3). Affiliated tissues include pituitary and thyroid, and related phenotypes are short neck and sensorineural hearing impairment
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
8
7

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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