Liberfarb Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

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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.

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Related Diseases for Liberfarb Syndrome

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

#	Related Disease	Score
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:

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Symptoms & Phenotypes for Liberfarb Syndrome

Human phenotypes related to Liberfarb Syndrome:

³⁰ (show all 12)

#	Description	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)

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Drugs & Therapeutics for Liberfarb Syndrome

Search Clinical Trials, NIH Clinical Center for Liberfarb Syndrome

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Genetic Tests for Liberfarb Syndrome

Genetic tests related to Liberfarb Syndrome:

#	Genetic test	Affiliating Genes
1	Liberfarb Syndrome ²⁸	PISD

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Anatomical Context for Liberfarb Syndrome

Organs/tissues related to Liberfarb Syndrome:

MalaCards : Bone, Retina, Brain, Eye, Breast

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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	Peter VG...Campos-Xavier B	31263216	2019
2	PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. ⁵⁷ ⁵	Zhao T...Shutt TE	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	Girisha KM...Mortier G	30488656	2019
4	Tapetoretinal degeneration associated with multisystem abnormalities. A case report. ⁵⁷ ⁵	Liberfarb RM...Hirose T	3561949	1986
5	Infrared Spectroscopy of Li+ Solvation in EmimBF4 and in Propylene Carbonate: Ab Initio Molecular Dynamics and Experiment. ⁶²	Yan F...Kim HJ	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	Chernyak AV...Yarmolenko OV	36363666	2022
7	Anion Donicity of Liquid Electrolytes for Lithium Carbon Fluoride Batteries. ⁶²	Wang X...Zhang H	36165574	2022
8	Preparation and Study of a Simple Three-Matrix Solid Electrolyte Membrane in Air. ⁶²	Liang X...Huang D	36080106	2022
9	Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy. ⁶²	Pinto E...Alves JE	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	Dai P...Zhao J	36001325	2022
11	Difluoro(oxalato)borate's Role in the Intercalation Behavior of Mixed Anions from Sulfolane. ⁶²	Wang Y...Wang H	36039804	2022
12	Rational Screening of High-Voltage Electrolytes and Additives for Use in LiNi0.5Mn1.5O4-Based Li-Ion Batteries. ⁶²	Drozhzhin OA...Antipov EV	35684531	2022
13	LiBF4 -Induced Rearrangement and Desymmetrization of a Palladium-Ligand Assembly. ⁶²	Sudan S...Severin K	35348279	2022
14	Maternal and neonatal peripartum factors associated with late initiation of breast feeding in Bangladesh: a secondary analysis. ⁶²	Roy A...Mridha MK	35584874	2022
15	Effects of LiBF4 Addition on the Lithium-Ion Conductivity of LiBH4. ⁶²	de Kort LM...Ngene P	35408587	2022
16	Synergistic Dual-Salt Electrolyte for Safe and High-Voltage LiNi0.8Co0.1Mn0.1O2//Graphite Pouch Cells. ⁶²	Wu C...Ouyang M	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	Beyene GM...Ayele TA	35079650	2022
18	Boosting the Energy Density of Li\|\|CFx Primary Batteries Using a 1,3-Dimethyl-2-imidazolidinone-Based Electrolyte. ⁶²	Fu A...Zheng J	34816716	2021
19	Cooperative Shielding of Bi-Electrodes via In Situ Amorphous Electrode-Electrolyte Interphases for Practical High-Energy Lithium-Metal Batteries. ⁶²	Liang JY...Guo YG	34607434	2021
20	Solid-state rigid-rod polymer composite electrolytes with nanocrystalline lithium ion pathways. ⁶²	Wang Y...Madsen LA	33941912	2021
21	Gel-polymer electrolytes based on polyurethane ionomers for lithium power sources. ⁶²	Davletbaeva IM...Davletbaev RS	35478804	2021
22	Non-Flammable and Highly Concentrated Carbonate Ester-Free Electrolyte Solutions for 5 V-Class Positive Electrodes in Lithium-Ion Batteries. ⁶²	Doi T...Inaba M	33961342	2021
23	Structural Effects of Solvents on Li-Ion-Hopping Conduction in Highly Concentrated LiBF4/Sulfone Solutions. ⁶²	Ugata Y...Dokko K	34121389	2021
24	Hopping in High Concentration Electrolytes - Long Time Bulk and Single-Particle Signatures, Free Energy Barriers, and Structural Insights. ⁶²	Mukherji S...Balasubramanian S	33125248	2020
25	Anion Intercalation into a Graphite Electrode from Trimethyl Phosphate. ⁶²	Zhang L...Wang H	33030890	2020
26	Effect of Liquid Electrolyte Soaking on the Interfacial Resistance of Li7La3Zr2O12 for All-Solid-State Lithium Batteries. ⁶²	Besli MM...Kuppan S	32286048	2020
27	Investigation on the Copolymer Electrolyte of Poly(1,3-dioxolane-co-formaldehyde). ⁶²	Liu F...Li L	32249484	2020
28	Solvate Cation Migration and Ion Correlations in Solvate Ionic Liquids. ⁶²	Schmidt F...Schonhoff M	31990553	2020
29	Mechanism of Stability Enhancement for Adiponitrile High Voltage Electrolyte System Referring to Addition of Fluoroethylene Carbonate. ⁶²	Fang Z...Li L	33134282	2020
30	Surface Chemistry Dependence on Aluminum Doping in Ni-rich LiNi0.8Co0.2-yAlyO2 Cathodes. ⁶²	Lebens-Higgins ZW...Piper LFJ	31776363	2019
31	Anion Storage Behavior of Graphite Electrodes in LiBF4/Sulfone/Ethyl Methyl Carbonate Solutions. ⁶²	Wang Y...Wang H	31660747	2019
32	Stable 2D Heteroporous Covalent Organic Frameworks for Efficient Ionic Conduction. ⁶²	Xie Z...Chen L	31433550	2019
33	Preparation and Properties of a High-Performance EOEOEA-Based Gel-Polymer-Electrolyte Lithium Battery. ⁶²	Ding W...Zang L	31382419	2019
34	Degradation Mechanism of Conversion-Type Iron Trifluoride: Toward Improvement of Cycle Performance. ⁶²	Senoh H...Matsubara E	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	Zhao K...Ba X	30960428	2019
36	Synergetic Effect of Ethyl Methyl Carbonate and Trimethyl Phosphate on BF4- Intercalation into a Graphite Electrode. ⁶²	Zhang L...Wang H	30811939	2019
37	Direct Evidence for Li Ion Hopping Conduction in Highly Concentrated Sulfolane-Based Liquid Electrolytes. ⁶²	Dokko K...Watanabe M	30403858	2018
38	A new route to synthesize aryl acetates from carbonylation of aryl methyl ethers. ⁶²	Mei Q...Han B	29795781	2018
39	X-ray Raman spectroscopy of lithium-ion battery electrolyte solutions in a flow cell. ⁶²	Ketenoglu D...Yavas H	29488934	2018
40	Negative effective Li transference numbers in Li salt/ionic liquid mixtures: does Li drift in the "Wrong" direction? ⁶²	Gouverneur M...Schonhoff M	29492492	2018
41	Liquid Quinones for Solvent-Free Redox Flow Batteries. ⁶²	Shimizu A...Yoshida JI	28885728	2017
42	Fluoride substitution in LiBH4; destabilization and decomposition. ⁶²	Richter B...Jensen TR	29104996	2017
43	Single-Ion Li+, Na+, and Mg2+ Solid Electrolytes Supported by a Mesoporous Anionic Cu-Azolate Metal-Organic Framework. ⁶²	Park SS...Dinca M	28880535	2017
44	Kinetics Tuning the Electrochemistry of Lithium Dendrites Formation in Lithium Batteries through Electrolytes. ⁶²	Tao R...Lu J	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	Freitag KM...Nilges T	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	Wang L...Fenske D	27785499	2016
47	Realisation of an all solid state lithium battery using solid high temperature plastic crystal electrolytes exhibiting liquid like conductivity. ⁶²	Shekibi Y...Hollenkamp AF	22354216	2012
48	Effect of lithium salt on the stability of dispersions of fumed silica in the ionic liquid BMImBF4. ⁶²	Nordstrom J...Matic A	22300339	2012
49	Microscopic structure and dynamics of LiBF4 solutions in cyclic and linear carbonates. ⁶²	Postupna OO...Prezhdo OV	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	Pujala B...Chakraborti AK	21899254	2011

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Genes for Liberfarb Syndrome

Genes related to Liberfarb Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PISD	Phosphatidylserine Decarboxylase	Protein Coding	1315.95	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders Publications (show sections)	3561949 30488656 30858161 (more) 31263216

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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

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Expression for Liberfarb Syndrome

Search GEO for disease gene expression data for Liberfarb Syndrome.

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Pathways for Liberfarb Syndrome

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GO Terms for Liberfarb Syndrome

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Sources for Liberfarb Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LIBF MCID: LBR035 MIFTS: 30	Liberfarb Syndrome (LIBF) Categories: Genetic diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Liberfarb Syndrome (LIBF)

Aliases & Classifications for Liberfarb Syndrome

MalaCards integrated aliases for Liberfarb Syndrome:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Liberfarb Syndrome

Related Diseases for Liberfarb Syndrome

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

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

Symptoms & Phenotypes for Liberfarb Syndrome

Human phenotypes related to Liberfarb Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Liberfarb Syndrome

Genetic Tests for Liberfarb Syndrome

Genetic tests related to Liberfarb Syndrome:

Anatomical Context for Liberfarb Syndrome

Organs/tissues related to Liberfarb Syndrome:

Publications for Liberfarb Syndrome

Articles related to Liberfarb Syndrome:

Genes for Liberfarb Syndrome

Genes related to Liberfarb Syndrome (1 elite genes):

Variations for Liberfarb Syndrome

ClinVar genetic disease variations for Liberfarb Syndrome:

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

Expression for Liberfarb Syndrome

Pathways for Liberfarb Syndrome

GO Terms for Liberfarb Syndrome

Sources for Liberfarb Syndrome