LIBF
MCID: LBR035
MIFTS: 24

Liberfarb Syndrome (LIBF)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Liberfarb Syndrome

MalaCards integrated aliases for Liberfarb Syndrome:

Name: Liberfarb Syndrome 56 29 6
Spondyloepimetaphyseal Dysplasia, Liberfarb Type; Semdlibf 56
Spondyloepimetaphyseal Dysplasia, Liberfarb Type 56
Semdlibf 56
Libf 56

Characteristics:

OMIM:

56
Miscellaneous:
phenotypic variability
skeletal abnormalities and joint laxity are not overtly present at birth
onset of retinal degeneration in childhood

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 56 618889

Summaries for Liberfarb Syndrome

OMIM : 56 Liberfarb syndrome is a progressive disorder involving connective tissue, bone, retina, ear, and brain. Patients exhibit severe short stature and scoliosis with thoracic kyphosis and lumbar hyperlordosis. Severe joint laxity results in dislocations of elbows, hips, and knees. Eye findings are consistent with early-onset retinal degeneration, and there is moderate to severe early-onset hearing loss. Microcephaly is apparent by school age, and patients exhibit developmental delay and intellectual deficits (Peter et al., 2019). Clinical variability has been observed, with some patients presenting differences in the severity and location of skeletal dysplasia involvement as well as variation in other features of the syndrome (Girisha et al., 2019; Zhao et al., 2019). (618889)

MalaCards based summary : Liberfarb Syndrome, also known as spondyloepimetaphyseal dysplasia, liberfarb type; semdlibf, is related to alacrima, achalasia, and mental retardation syndrome and scoliosis. An important gene associated with Liberfarb Syndrome is PISD (Phosphatidylserine Decarboxylase). Affiliated tissues include bone, brain and eye.

Related Diseases for Liberfarb Syndrome

Diseases related to Liberfarb Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.1
2 scoliosis 10.1
3 sensorineural hearing loss 10.1
4 microcephaly 10.1
5 retinal degeneration 10.1

Graphical network of the top 20 diseases related to Liberfarb Syndrome:



Diseases related to Liberfarb Syndrome

Symptoms & Phenotypes for Liberfarb Syndrome

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes planus
hallux valgus, mild

Skeletal Skull:
microcephaly

Skeletal Limbs:
genu valgum
limited elbow extension
knee dislocation
metaphyseal striations
metaphyseal flaring
more
Chest External Features:
short thorax
narrow thorax

Neurologic Central Nervous System:
motor delay
cerebellar atrophy
hypotonia
seizures (rare)
intellectual disability, mild to moderate
more
Skeletal Hands:
brachydactyly

Respiratory Larynx:
tracheomalacia
subglottic stenosis

Head And Neck Face:
midface hypoplasia
mild retrognathia

Growth Weight:
low weight

Chest Ribs Sternum Clavicles And Scapulae:
flared ribs

Head And Neck Head:
microcephaly

Growth Other:
failure to thrive

Skeletal Spine:
ovoid vertebral bodies
platyspondyly
spina bifida occulta
thoracic kyphosis
lumbar hyperlordosis
more
Head And Neck Eyes:
strabismus
reduced visual acuity
congenital cataracts
nystagmus, horizontal
pale optic discs
more
Head And Neck Nose:
depressed nasal ridge
bulbous nose

Skeletal Pelvis:
hip dislocation
coxa vara
necrosis of femoral head
irregular lace-like iliac crests

Growth Height:
severe short stature

Skeletal:
delayed bone age
joint laxity, progressive and severe

Head And Neck Ears:
hearing loss, sensorineural

Respiratory Lung:
respiratory problems, recurrent

Clinical features from OMIM:

618889

Drugs & Therapeutics for Liberfarb Syndrome

Search Clinical Trials , NIH Clinical Center for Liberfarb Syndrome

Genetic Tests for Liberfarb Syndrome

Genetic tests related to Liberfarb Syndrome:

# Genetic test Affiliating Genes
1 Liberfarb Syndrome 29 PISD

Anatomical Context for Liberfarb Syndrome

MalaCards organs/tissues related to Liberfarb Syndrome:

40
Bone, Brain, Eye, Retina, Lung

Publications for Liberfarb Syndrome

Articles related to Liberfarb Syndrome:

(show all 43)
# Title Authors PMID Year
1
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. 61 6 56
31263216 2019
2
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 6 56
30858161 2019
3
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. 56 6
30488656 2019
4
Tapetoretinal degeneration associated with multisystem abnormalities. A case report. 6 56
3561949 1986
5
Effect of Liquid Electrolyte Soaking on the Interfacial Resistance of Li7La3Zr2O12 for All-Solid-State Lithium Batteries. 61
32286048 2020
6
Investigation on the Copolymer Electrolyte of Poly(1,3-dioxolane-co-formaldehyde). 61
32249484 2020
7
Solvate Cation Migration and Ion Correlations in Solvate Ionic Liquids. 61
31990553 2020
8
Anion Storage Behavior of Graphite Electrodes in LiBF4/Sulfone/Ethyl Methyl Carbonate Solutions. 61
31660747 2019
9
Surface Chemistry Dependence on Aluminum Doping in Ni-rich LiNi0.8Co0.2-yAlyO2 Cathodes. 61
31776363 2019
10
Stable 2D Heteroporous Covalent Organic Frameworks for Efficient Ionic Conduction. 61
31433550 2019
11
Degradation Mechanism of Conversion-Type Iron Trifluoride: Toward Improvement of Cycle Performance. 61
31390177 2019
12
Preparation and Properties of a High-Performance EOEOEA-Based Gel-Polymer-Electrolyte Lithium Battery. 61
31382419 2019
13
Synergetic Effect of Ethyl Methyl Carbonate and Trimethyl Phosphate on BF4- Intercalation into a Graphite Electrode. 61
30811939 2019
14
Novel Chemical Cross-Linked Ionogel Based on Acrylate Terminated Hyperbranched Polymer with Superior Ionic Conductivity for High Performance Lithium-Ion Batteries. 61
30960428 2019
15
Direct Evidence for Li Ion Hopping Conduction in Highly Concentrated Sulfolane-Based Liquid Electrolytes. 61
30403858 2018
16
A new route to synthesize aryl acetates from carbonylation of aryl methyl ethers. 61
29795781 2018
17
X-ray Raman spectroscopy of lithium-ion battery electrolyte solutions in a flow cell. 61
29488934 2018
18
Negative effective Li transference numbers in Li salt/ionic liquid mixtures: does Li drift in the "Wrong" direction? 61
29492492 2018
19
Fluoride substitution in LiBH4; destabilization and decomposition. 61
29104996 2017
20
Liquid Quinones for Solvent-Free Redox Flow Batteries. 61
28885728 2017
21
Single-Ion Li+, Na+, and Mg2+ Solid Electrolytes Supported by a Mesoporous Anionic Cu-Azolate Metal-Organic Framework. 61
28880535 2017
22
Kinetics Tuning the Electrochemistry of Lithium Dendrites Formation in Lithium Batteries through Electrolytes. 61
28191849 2017
23
Enhancement of Li Ion Conductivity by Electrospun Polymer Fibers and Direct Fabrication of Solvent-Free Separator Membranes for Li Ion Batteries. 61
28150938 2017
24
The selective activation of a C-F bond with an auxiliary strong Lewis acid: a method to change the activation preference of C-F and C-H bonds. 61
27785499 2016
25
Realisation of an all solid state lithium battery using solid high temperature plastic crystal electrolytes exhibiting liquid like conductivity. 61
22354216 2012
26
Effect of lithium salt on the stability of dispersions of fumed silica in the ionic liquid BMImBF4. 61
22300339 2012
27
Microscopic structure and dynamics of LiBF4 solutions in cyclic and linear carbonates. 61
21995517 2011
28
Zinc tetrafluoroborate hydrate as a mild catalyst for epoxide ring opening with amines: scope and limitations of metal tetrafluoroborates and applications in the synthesis of antihypertensive drugs (RS)/(R)/(S)-metoprolols. 61
21899254 2011
29
Nickel-catalyzed Negishi cross-coupling reactions of secondary alkylzinc halides and aryl iodides. 61
21309529 2011
30
Inclusion and dynamics of a polymer-Li salt complex in coordination nanochannels. 61
21203630 2011
31
3D interconnected ionic nano-channels formed in polymer films: self-organization and polymerization of thermotropic bicontinuous cubic liquid crystals. 61
21271700 2011
32
Alkali metal ions as probes of structure and recognition properties of macrocyclic pyridyl urea hosts. 61
20704422 2010
33
Synthesis and characterization of a cationic ruthenium complex featuring an unusual Bis(eta2-BH) monoborane ligand. 61
18671344 2008
34
Structure and inter-phase stability in solvent-free low-dimensional polymer electrolytes with high lithium conductivity. 61
15452630 2004
35
Platinum and palladium imido and oxo complexes with small natural bite angle diphosphine ligands. 61
12588167 2003
36
Stabilization of molecular LiF and LiFHF inside metallamacrocyclic hosts. 61
12377041 2002
37
Synthesis of [5'-13C]ribonucleosides and 2'-deoxy[5'-13C]ribonucleosides. 61
12126398 2002
38
Selective lithium ion binding involving inositol-based tris(spirotetrahydrofuranyl) ionophores: formation of a rodlike supramolecular ionic polymer from a homoditopic dimer. 61
11457325 2001
39
Selective Production of Acetone in the Electrochemical Reduction of CO2 Catalyzed by a Ru-Naphthyridine Complex. 61
29711636 1999
40
Lewis Acid Activation and Catalysis of Dialkylaminyl Radical Reactions. 61
11671628 1997
41
Potentiometric response of poly(3-octylthiophene), poly(3-methylthiophene) and polythiophene in aqueous solutions. 61
18965803 1993
42
Anionic responses of electrochemically synthesized polypyrrole films. 61
18965426 1992
43
[Status of hepatic blood flow in patients with tuberculosis during electroanesthesia and operations on the lungs]. 61
2080157 1990

Variations for Liberfarb Syndrome

ClinVar genetic disease variations for Liberfarb Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PISD NM_001326411.1(PISD):c.1006-12_1006-3deldeletion Pathogenic 694325 22:32015825-32015834 22:31619839-31619848
2 PISD NM_001326411.1(PISD):c.899G>A (p.Cys300Tyr)SNV Pathogenic 873551 22:32016645-32016645 22:31620659-31620659
3 PISD NM_001326411.1(PISD):c.830G>A (p.Arg277Gln)SNV Pathogenic/Likely pathogenic 599401 rs147371584 22:32016996-32016996 22:31621010-31621010
4 PISD NM_001326411.1(PISD):c.697+5G>ASNV Pathogenic/Likely pathogenic 599404 22:32017315-32017315 22:31621329-31621329

Expression for Liberfarb Syndrome

Search GEO for disease gene expression data for Liberfarb Syndrome.

Pathways for Liberfarb Syndrome

GO Terms for Liberfarb Syndrome

Sources for Liberfarb Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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