Details of Disease

General Information of Disease (ID: DISGD13Z)

Disease Name Liberfarb syndrome
Synonyms Liberfarb syndrome; LIBF; spondyloepimetaphyseal dysplasia, Liberfarb Type; short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Definition
A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISGD13Z: Liberfarb syndrome
Disease Identifiers
MONDO ID
MONDO_0030045
UMLS CUI
C5394404
OMIM ID
618889
MedGen ID
1709796
Orphanet ID
589442
SNOMED CT ID
1284851009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PISD OTP9COQT Strong Autosomal recessive [1]
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References

1 The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Hum Mutat. 2019 Mar;40(3):299-309. doi: 10.1002/humu.23693. Epub 2018 Dec 21.