Details of Disease

General Information of Disease (ID: DISJ7D7I)

Disease Name Keipert syndrome
Synonyms Keipert syndrome, X-linked recessive; KPTS; nasodigitoacoustic syndrome, formerly; nasodigitoacoustic syndrome; Keipert syndrome
Definition
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.
Disease Hierarchy
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DISJ7D7I: Keipert syndrome
Disease Identifiers
MONDO ID
MONDO_0009720
MESH ID
C538337
UMLS CUI
C1850627
OMIM ID
301026
MedGen ID
338088
Orphanet ID
2662
SNOMED CT ID
763774001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GPC6 OTNJBESF Strong Biomarker [1]
GPC4 OTUJ14DW Definitive X-linked recessive [1]
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References

1 Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11.