LIBF
MCID: LBR035
MIFTS: 30

Liberfarb Syndrome (LIBF)

Categories: Genetic diseases
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Aliases & Classifications for Liberfarb Syndrome

MalaCards integrated aliases for Liberfarb Syndrome:

Name: Liberfarb Syndrome 57 73 28 5
Spondyloepimetaphyseal Dysplasia, Liberfarb Type 57 73
Semdlibf 57 73
Libf 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
phenotypic variability
skeletal abnormalities and joint laxity are not overtly present at birth
onset of retinal degeneration in childhood


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 08-Dec-2022)

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 sensorineural hearing loss. An important gene associated with Liberfarb Syndrome is PISD (Phosphatidylserine Decarboxylase). Affiliated tissues include bone, retina and brain, and related phenotypes are intellectual disability and scoliosis

UniProtKB/Swiss-Prot: 73 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 sensorineural hearing loss 10.1
3 microcephaly 10.1
4 peripheral retinal degeneration 10.1
5 retinal degeneration 10.1
6 scoliosis 10.0
7 spondyloepimetaphyseal dysplasia 10.0
8 spondyloepimetaphyseal dysplasia with joint laxity 10.0
9 osteochondrodysplasia 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:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 HP:0001249
2 scoliosis 30 HP:0002650
3 global developmental delay 30 HP:0001263
4 microcephaly 30 HP:0000252
5 sensorineural hearing impairment 30 HP:0000407
6 short stature 30 HP:0004322
7 optic disc pallor 30 HP:0000543
8 retinal degeneration 30 HP:0000546
9 delayed epiphyseal ossification 30 HP:0002663
10 retinal pigment epithelial mottling 30 HP:0007814
11 bone spicule pigmentation of the retina 30 HP:0007737
12 metaphyseal striations 30 HP:0031367

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Skeletal Feet:
pes planus
hallux valgus, mild

Skeletal Skull:
microcephaly

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

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

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 08-Dec-2022)

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 28 PISD

Anatomical Context for Liberfarb Syndrome

Organs/tissues related to Liberfarb Syndrome:

MalaCards : Bone, Retina, Brain, Eye, Breast

Publications for Liberfarb Syndrome

Articles related to Liberfarb Syndrome:

(show top 50) (show all 65)
# 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. 62 57 5
31263216 2019
2
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 57 5
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. 57 5
30488656 2019
4
Tapetoretinal degeneration associated with multisystem abnormalities. A case report. 57 5
3561949 1986
5
Infrared Spectroscopy of Li+ Solvation in EmimBF4 and in Propylene Carbonate: Ab Initio Molecular Dynamics and Experiment. 62
36326052 2022
6
Effect of the Solvate Environment of Lithium Cations on the Resistance of the Polymer Electrolyte/Electrode Interface in a Solid-State Lithium Battery. 62
36363666 2022
7
Anion Donicity of Liquid Electrolytes for Lithium Carbon Fluoride Batteries. 62
36165574 2022
8
Preparation and Study of a Simple Three-Matrix Solid Electrolyte Membrane in Air. 62
36080106 2022
9
Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy. 62
36136119 2022
10
Synergistic Effect of Dual-Anion Additives Promotes the Fast Dynamics and High-Voltage Performance of Ni-Rich Lithium-Ion Batteries by Regulating the Electrode/Electrolyte Interface. 62
36001325 2022
11
Difluoro(oxalato)borate's Role in the Intercalation Behavior of Mixed Anions from Sulfolane. 62
36039804 2022
12
Rational Screening of High-Voltage Electrolytes and Additives for Use in LiNi0.5Mn1.5O4-Based Li-Ion Batteries. 62
35684531 2022
13
LiBF4 -Induced Rearrangement and Desymmetrization of a Palladium-Ligand Assembly. 62
35348279 2022
14
Maternal and neonatal peripartum factors associated with late initiation of breast feeding in Bangladesh: a secondary analysis. 62
35584874 2022
15
Effects of LiBF4 Addition on the Lithium-Ion Conductivity of LiBH4. 62
35408587 2022
16
Synergistic Dual-Salt Electrolyte for Safe and High-Voltage LiNi0.8Co0.1Mn0.1O2//Graphite Pouch Cells. 62
35191304 2022
17
Effect of antenatal depression on the initiation of breastfeeding in South Gondar zone, Northwest Ethiopia: A population-based prospective cohort study. 62
35079650 2022
18
Boosting the Energy Density of Li||CFx Primary Batteries Using a 1,3-Dimethyl-2-imidazolidinone-Based Electrolyte. 62
34816716 2021
19
Cooperative Shielding of Bi-Electrodes via In Situ Amorphous Electrode-Electrolyte Interphases for Practical High-Energy Lithium-Metal Batteries. 62
34607434 2021
20
Solid-state rigid-rod polymer composite electrolytes with nanocrystalline lithium ion pathways. 62
33941912 2021
21
Gel-polymer electrolytes based on polyurethane ionomers for lithium power sources. 62
35478804 2021
22
Non-Flammable and Highly Concentrated Carbonate Ester-Free Electrolyte Solutions for 5 V-Class Positive Electrodes in Lithium-Ion Batteries. 62
33961342 2021
23
Structural Effects of Solvents on Li-Ion-Hopping Conduction in Highly Concentrated LiBF4/Sulfone Solutions. 62
34121389 2021
24
Hopping in High Concentration Electrolytes - Long Time Bulk and Single-Particle Signatures, Free Energy Barriers, and Structural Insights. 62
33125248 2020
25
Anion Intercalation into a Graphite Electrode from Trimethyl Phosphate. 62
33030890 2020
26
Effect of Liquid Electrolyte Soaking on the Interfacial Resistance of Li7La3Zr2O12 for All-Solid-State Lithium Batteries. 62
32286048 2020
27
Investigation on the Copolymer Electrolyte of Poly(1,3-dioxolane-co-formaldehyde). 62
32249484 2020
28
Solvate Cation Migration and Ion Correlations in Solvate Ionic Liquids. 62
31990553 2020
29
Mechanism of Stability Enhancement for Adiponitrile High Voltage Electrolyte System Referring to Addition of Fluoroethylene Carbonate. 62
33134282 2020
30
Surface Chemistry Dependence on Aluminum Doping in Ni-rich LiNi0.8Co0.2-yAlyO2 Cathodes. 62
31776363 2019
31
Anion Storage Behavior of Graphite Electrodes in LiBF4/Sulfone/Ethyl Methyl Carbonate Solutions. 62
31660747 2019
32
Stable 2D Heteroporous Covalent Organic Frameworks for Efficient Ionic Conduction. 62
31433550 2019
33
Preparation and Properties of a High-Performance EOEOEA-Based Gel-Polymer-Electrolyte Lithium Battery. 62
31382419 2019
34
Degradation Mechanism of Conversion-Type Iron Trifluoride: Toward Improvement of Cycle Performance. 62
31390177 2019
35
Novel Chemical Cross-Linked Ionogel Based on Acrylate Terminated Hyperbranched Polymer with Superior Ionic Conductivity for High Performance Lithium-Ion Batteries. 62
30960428 2019
36
Synergetic Effect of Ethyl Methyl Carbonate and Trimethyl Phosphate on BF4- Intercalation into a Graphite Electrode. 62
30811939 2019
37
Direct Evidence for Li Ion Hopping Conduction in Highly Concentrated Sulfolane-Based Liquid Electrolytes. 62
30403858 2018
38
A new route to synthesize aryl acetates from carbonylation of aryl methyl ethers. 62
29795781 2018
39
X-ray Raman spectroscopy of lithium-ion battery electrolyte solutions in a flow cell. 62
29488934 2018
40
Negative effective Li transference numbers in Li salt/ionic liquid mixtures: does Li drift in the "Wrong" direction? 62
29492492 2018
41
Liquid Quinones for Solvent-Free Redox Flow Batteries. 62
28885728 2017
42
Fluoride substitution in LiBH4; destabilization and decomposition. 62
29104996 2017
43
Single-Ion Li+, Na+, and Mg2+ Solid Electrolytes Supported by a Mesoporous Anionic Cu-Azolate Metal-Organic Framework. 62
28880535 2017
44
Kinetics Tuning the Electrochemistry of Lithium Dendrites Formation in Lithium Batteries through Electrolytes. 62
28191849 2017
45
Enhancement of Li Ion Conductivity by Electrospun Polymer Fibers and Direct Fabrication of Solvent-Free Separator Membranes for Li Ion Batteries. 62
28150938 2017
46
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. 62
27785499 2016
47
Realisation of an all solid state lithium battery using solid high temperature plastic crystal electrolytes exhibiting liquid like conductivity. 62
22354216 2012
48
Effect of lithium salt on the stability of dispersions of fumed silica in the ionic liquid BMImBF4. 62
22300339 2012
49
Microscopic structure and dynamics of LiBF4 solutions in cyclic and linear carbonates. 62
21995517 2011
50
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. 62
21899254 2011

Variations for Liberfarb Syndrome

ClinVar genetic disease variations for Liberfarb Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PISD NM_001326411.2(PISD):c.1006-12_1006-3del DEL Pathogenic
694325 rs1410592269 GRCh37: 22:32015825-32015834
GRCh38: 22:31619839-31619848
2 PISD NM_001326411.2(PISD):c.830G>A (p.Arg277Gln) SNV Pathogenic
599401 rs147371584 GRCh37: 22:32016996-32016996
GRCh38: 22:31621010-31621010
3 PISD NM_001326411.2(PISD):c.697+5G>A SNV Pathogenic
599404 rs1603393478 GRCh37: 22:32017315-32017315
GRCh38: 22:31621329-31621329
4 PISD NM_001326411.2(PISD):c.899G>A (p.Cys300Tyr) SNV Pathogenic/Likely Pathogenic
873551 rs2072505076 GRCh37: 22:32016645-32016645
GRCh38: 22:31620659-31620659

UniProtKB/Swiss-Prot genetic disease variations for Liberfarb Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 PISD p.Arg277Gln VAR_084458 rs147371584
2 PISD p.Cys300Tyr VAR_084459

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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