Log In|Sign Up
ENBamforth-Lazarus Syndrome (BAMLAZ)
Alias:
Bamforth Syndrome
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome
Hypothyroidism-Cleft Palate Syndrome
Bamlaz
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate
Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate
Favorite
Bamforth-Lazarus Syndrome, also known as bamforth syndrome, is related to congenital hypothyroidism and choanal atresia, posterior. An important gene associated with Bamforth-Lazarus Syndrome is FOXE1 (Forkhead Box E1), and among its related pathways/superpathways are Thyroid hormones production and peripheral downstream signaling effects and Metabolism of amine-derived hormones. Affiliated tissues include thyroid, and related phenotypes are intellectual disability and cleft palate
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
