LIBF
MCID: LBR035
MIFTS: 27

Liberfarb Syndrome (LIBF)

Categories: Genetic diseases

Aliases & Classifications for Liberfarb Syndrome

MalaCards integrated aliases for Liberfarb Syndrome:

Name: Liberfarb Syndrome 57 73 6
Spondyloepimetaphyseal Dysplasia, Liberfarb Type 57 73
Semdlibf 57 73
Libf 57 73
Spondyloepimetaphyseal Dysplasia, Liberfarb Type; Semdlibf 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
phenotypic variability
skeletal abnormalities and joint laxity are not overtly present at birth
onset of retinal degeneration in childhood

Inheritance:
autosomal recessive


HPO:

31
liberfarb syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Liberfarb Syndrome

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Liberfarb Syndrome, also known as spondyloepimetaphyseal dysplasia, liberfarb type, is related to short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Liberfarb Syndrome is PISD (Phosphatidylserine Decarboxylase). Affiliated tissues include eye, retina and bone, and related phenotypes are intellectual disability and scoliosis

UniProtKB/Swiss-Prot : 73 Liberfarb syndrome: An autosomal recessive multisystem disorder affecting the eye, ear, bone, and brain development. Clinical features include early-onset retinal degeneration, congenital cataracts, sensorineural hearing loss, microcephaly, intellectual disability, white matter changes, mild facial dysmorphism, and skeletal dysplasia with platyspondyly, scoliosis and short stature.

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 short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome 11.1
2 alacrima, achalasia, and mental retardation syndrome 10.0
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
4 scoliosis 10.0
5 sensorineural hearing loss 10.0
6 microcephaly 10.0
7 retinal degeneration 10.0

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



Diseases related to Liberfarb Syndrome

Symptoms & Phenotypes for Liberfarb Syndrome

Human phenotypes related to Liberfarb Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 scoliosis 31 HP:0002650
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 sensorineural hearing impairment 31 HP:0000407
6 short stature 31 HP:0004322
7 optic disc pallor 31 HP:0000543
8 retinal degeneration 31 HP:0000546
9 retinal pigment epithelial mottling 31 HP:0007814
10 delayed epiphyseal ossification 31 HP:0002663
11 bone spicule pigmentation of the retina 31 HP:0007737
12 metaphyseal striations 31 HP:0031367

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Head And Neck Head:
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

Skeletal Feet:
pes planus
hallux valgus, mild

Skeletal Skull:
microcephaly

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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Liberfarb Syndrome

Search Clinical Trials , NIH Clinical Center for Liberfarb Syndrome

Genetic Tests for Liberfarb Syndrome

Anatomical Context for Liberfarb Syndrome

MalaCards organs/tissues related to Liberfarb Syndrome:

40
Eye, Retina, Bone, Brain

Publications for Liberfarb Syndrome

Articles related to Liberfarb Syndrome:

(show all 46)
# 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. 6 57 61
31263216 2019
2
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 6 57
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. 6 57
30488656 2019
4
Tapetoretinal degeneration associated with multisystem abnormalities. A case report. 57 6
3561949 1986
5
Hopping in High Concentration Electrolytes - Long Time Bulk and Single-Particle Signatures, Free Energy Barriers, and Structural Insights. 61
33125248 2020
6
Anion Intercalation into a Graphite Electrode from Trimethyl Phosphate. 61
33030890 2020
7
Investigation on the Copolymer Electrolyte of Poly(1,3-dioxolane-co-formaldehyde). 61
32249484 2020
8
Effect of Liquid Electrolyte Soaking on the Interfacial Resistance of Li7La3Zr2O12 for All-Solid-State Lithium Batteries. 61
32286048 2020
9
Solvate Cation Migration and Ion Correlations in Solvate Ionic Liquids. 61
31990553 2020
10
Mechanism of Stability Enhancement for Adiponitrile High Voltage Electrolyte System Referring to Addition of Fluoroethylene Carbonate. 61
33134282 2020
11
Surface Chemistry Dependence on Aluminum Doping in Ni-rich LiNi0.8Co0.2-yAlyO2 Cathodes. 61
31776363 2019
12
Anion Storage Behavior of Graphite Electrodes in LiBF4/Sulfone/Ethyl Methyl Carbonate Solutions. 61
31660747 2019
13
Stable 2D Heteroporous Covalent Organic Frameworks for Efficient Ionic Conduction. 61
31433550 2019
14
Preparation and Properties of a High-Performance EOEOEA-Based Gel-Polymer-Electrolyte Lithium Battery. 61
31382419 2019
15
Degradation Mechanism of Conversion-Type Iron Trifluoride: Toward Improvement of Cycle Performance. 61
31390177 2019
16
Synergetic Effect of Ethyl Methyl Carbonate and Trimethyl Phosphate on BF4- Intercalation into a Graphite Electrode. 61
30811939 2019
17
Novel Chemical Cross-Linked Ionogel Based on Acrylate Terminated Hyperbranched Polymer with Superior Ionic Conductivity for High Performance Lithium-Ion Batteries. 61
30960428 2019
18
Direct Evidence for Li Ion Hopping Conduction in Highly Concentrated Sulfolane-Based Liquid Electrolytes. 61
30403858 2018
19
A new route to synthesize aryl acetates from carbonylation of aryl methyl ethers. 61
29795781 2018
20
Negative effective Li transference numbers in Li salt/ionic liquid mixtures: does Li drift in the "Wrong" direction? 61
29492492 2018
21
X-ray Raman spectroscopy of lithium-ion battery electrolyte solutions in a flow cell. 61
29488934 2018
22
Liquid Quinones for Solvent-Free Redox Flow Batteries. 61
28885728 2017
23
Fluoride substitution in LiBH4; destabilization and decomposition. 61
29104996 2017
24
Single-Ion Li+, Na+, and Mg2+ Solid Electrolytes Supported by a Mesoporous Anionic Cu-Azolate Metal-Organic Framework. 61
28880535 2017
25
Kinetics Tuning the Electrochemistry of Lithium Dendrites Formation in Lithium Batteries through Electrolytes. 61
28191849 2017
26
Enhancement of Li Ion Conductivity by Electrospun Polymer Fibers and Direct Fabrication of Solvent-Free Separator Membranes for Li Ion Batteries. 61
28150938 2017
27
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
28
Realisation of an all solid state lithium battery using solid high temperature plastic crystal electrolytes exhibiting liquid like conductivity. 61
22354216 2012
29
Effect of lithium salt on the stability of dispersions of fumed silica in the ionic liquid BMImBF4. 61
22300339 2012
30
Microscopic structure and dynamics of LiBF4 solutions in cyclic and linear carbonates. 61
21995517 2011
31
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
32
Nickel-catalyzed Negishi cross-coupling reactions of secondary alkylzinc halides and aryl iodides. 61
21309529 2011
33
3D interconnected ionic nano-channels formed in polymer films: self-organization and polymerization of thermotropic bicontinuous cubic liquid crystals. 61
21271700 2011
34
Inclusion and dynamics of a polymer-Li salt complex in coordination nanochannels. 61
21203630 2011
35
Alkali metal ions as probes of structure and recognition properties of macrocyclic pyridyl urea hosts. 61
20704422 2010
36
Synthesis and characterization of a cationic ruthenium complex featuring an unusual Bis(eta2-BH) monoborane ligand. 61
18671344 2008
37
Structure and inter-phase stability in solvent-free low-dimensional polymer electrolytes with high lithium conductivity. 61
15452630 2004
38
Platinum and palladium imido and oxo complexes with small natural bite angle diphosphine ligands. 61
12588167 2003
39
Stabilization of molecular LiF and LiFHF inside metallamacrocyclic hosts. 61
12377041 2002
40
Synthesis of [5'-13C]ribonucleosides and 2'-deoxy[5'-13C]ribonucleosides. 61
12126398 2002
41
Selective lithium ion binding involving inositol-based tris(spirotetrahydrofuranyl) ionophores: formation of a rodlike supramolecular ionic polymer from a homoditopic dimer. 61
11457325 2001
42
Selective Production of Acetone in the Electrochemical Reduction of CO2 Catalyzed by a Ru-Naphthyridine Complex. 61
29711636 1999
43
Lewis Acid Activation and Catalysis of Dialkylaminyl Radical Reactions. 61
11671628 1997
44
Potentiometric response of poly(3-octylthiophene), poly(3-methylthiophene) and polythiophene in aqueous solutions. 61
18965803 1993
45
Anionic responses of electrochemically synthesized polypyrrole films. 61
18965426 1992
46
[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_1006-3del Deletion Pathogenic 694325 rs1410592269 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 599401 rs147371584 22:32016996-32016996 22:31621010-31621010
4 PISD NM_001326411.1(PISD):c.697+5G>A SNV Pathogenic 599404 rs1603393478 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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