Hartsfield Syndrome (HRTFDS)

Alias:
Holoprosencephaly-Ectrodactyly-Cleft Lip/palate Syndrome
Hartsfield-Bixler-Demyer Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/palate
Holoprosencephaly Ectrodactyly Cleft Lip Palate
Hrtfds
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly and Bilateral Cleft Lip/palate
Holoprosencephaly, Hypertelorism, and Ectrodactyly Syndrome
Holoprosencephaly and Split Hand/foot Syndrome
Hhes
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hartsfield Syndrome, also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome, is related to holoprosencephaly 1 and holoprosencephaly. An important gene associated with Hartsfield Syndrome is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Downstream signaling of activated FGFR2 and Signaling by Receptor Tyrosine Kinases. Affiliated tissues include brain and pituitary, and related phenotypes are ptosis and respiratory insufficiency
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
<1/1000000
2
70
8

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
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
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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