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

LIBF MCID: LBR035 MIFTS: 24	Liberfarb Syndrome (LIBF) Categories: Bone diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618889

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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.

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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	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:

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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

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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 ²⁹	PISD

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Anatomical Context for Liberfarb Syndrome

MalaCards organs/tissues related to Liberfarb Syndrome:

⁴⁰

Bone, Brain, Eye, Retina, Lung

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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	Peter VG...Campos-Xavier B	31263216	2019
2	PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. ⁶ ⁵⁶	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. ⁵⁶ ⁶	Girisha KM...Mortier G	30488656	2019
4	Tapetoretinal degeneration associated with multisystem abnormalities. A case report. ⁶ ⁵⁶	Liberfarb RM...Hirose T	3561949	1986
5	Effect of Liquid Electrolyte Soaking on the Interfacial Resistance of Li7La3Zr2O12 for All-Solid-State Lithium Batteries. ⁶¹	Besli MM...Kuppan S	32286048	2020
6	Investigation on the Copolymer Electrolyte of Poly(1,3-dioxolane-co-formaldehyde). ⁶¹	Liu F...Li L	32249484	2020
7	Solvate Cation Migration and Ion Correlations in Solvate Ionic Liquids. ⁶¹	Schmidt F...Schonhoff M	31990553	2020
8	Anion Storage Behavior of Graphite Electrodes in LiBF4/Sulfone/Ethyl Methyl Carbonate Solutions. ⁶¹	Wang Y...Wang H	31660747	2019
9	Surface Chemistry Dependence on Aluminum Doping in Ni-rich LiNi0.8Co0.2-yAlyO2 Cathodes. ⁶¹	Lebens-Higgins ZW...Piper LFJ	31776363	2019
10	Stable 2D Heteroporous Covalent Organic Frameworks for Efficient Ionic Conduction. ⁶¹	Xie Z...Chen L	31433550	2019
11	Degradation Mechanism of Conversion-Type Iron Trifluoride: Toward Improvement of Cycle Performance. ⁶¹	Senoh H...Matsubara E	31390177	2019
12	Preparation and Properties of a High-Performance EOEOEA-Based Gel-Polymer-Electrolyte Lithium Battery. ⁶¹	Ding W...Zang L	31382419	2019
13	Synergetic Effect of Ethyl Methyl Carbonate and Trimethyl Phosphate on BF4- Intercalation into a Graphite Electrode. ⁶¹	Zhang L...Wang H	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	Zhao K...Ba X	30960428	2019
15	Direct Evidence for Li Ion Hopping Conduction in Highly Concentrated Sulfolane-Based Liquid Electrolytes. ⁶¹	Dokko K...Watanabe M	30403858	2018
16	A new route to synthesize aryl acetates from carbonylation of aryl methyl ethers. ⁶¹	Mei Q...Han B	29795781	2018
17	X-ray Raman spectroscopy of lithium-ion battery electrolyte solutions in a flow cell. ⁶¹	Ketenoglu D...Yavas H	29488934	2018
18	Negative effective Li transference numbers in Li salt/ionic liquid mixtures: does Li drift in the "Wrong" direction? ⁶¹	Gouverneur M...Schonhoff M	29492492	2018
19	Fluoride substitution in LiBH4; destabilization and decomposition. ⁶¹	Richter B...Jensen TR	29104996	2017
20	Liquid Quinones for Solvent-Free Redox Flow Batteries. ⁶¹	Shimizu A...Yoshida JI	28885728	2017
21	Single-Ion Li+, Na+, and Mg2+ Solid Electrolytes Supported by a Mesoporous Anionic Cu-Azolate Metal-Organic Framework. ⁶¹	Park SS...Dinca M	28880535	2017
22	Kinetics Tuning the Electrochemistry of Lithium Dendrites Formation in Lithium Batteries through Electrolytes. ⁶¹	Tao R...Lu J	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	Freitag KM...Nilges T	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	Wang L...Fenske D	27785499	2016
25	Realisation of an all solid state lithium battery using solid high temperature plastic crystal electrolytes exhibiting liquid like conductivity. ⁶¹	Shekibi Y...Hollenkamp AF	22354216	2012
26	Effect of lithium salt on the stability of dispersions of fumed silica in the ionic liquid BMImBF4. ⁶¹	Nordstrom J...Matic A	22300339	2012
27	Microscopic structure and dynamics of LiBF4 solutions in cyclic and linear carbonates. ⁶¹	Postupna OO...Prezhdo OV	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	Pujala B...Chakraborti AK	21899254	2011
29	Nickel-catalyzed Negishi cross-coupling reactions of secondary alkylzinc halides and aryl iodides. ⁶¹	Joshi-Pangu A...Biscoe MR	21309529	2011
30	Inclusion and dynamics of a polymer-Li salt complex in coordination nanochannels. ⁶¹	Yanai N...Kitagawa S	21203630	2011
31	3D interconnected ionic nano-channels formed in polymer films: self-organization and polymerization of thermotropic bicontinuous cubic liquid crystals. ⁶¹	Ichikawa T...Kato T	21271700	2011
32	Alkali metal ions as probes of structure and recognition properties of macrocyclic pyridyl urea hosts. ⁶¹	Roy K...Shimizu LS	20704422	2010
33	Synthesis and characterization of a cationic ruthenium complex featuring an unusual Bis(eta2-BH) monoborane ligand. ⁶¹	Hesp KD...Stradiotto M	18671344	2008
34	Structure and inter-phase stability in solvent-free low-dimensional polymer electrolytes with high lithium conductivity. ⁶¹	Zheng Y...Wright PV	15452630	2004
35	Platinum and palladium imido and oxo complexes with small natural bite angle diphosphine ligands. ⁶¹	Anandhi U...Sharp PR	12588167	2003
36	Stabilization of molecular LiF and LiFHF inside metallamacrocyclic hosts. ⁶¹	Lehaire ML...Severin K	12377041	2002
37	Synthesis of [5'-13C]ribonucleosides and 2'-deoxy[5'-13C]ribonucleosides. ⁶¹	Kawashima E...Sekine T	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	Paquette LA...Tae J	11457325	2001
39	Selective Production of Acetone in the Electrochemical Reduction of CO2 Catalyzed by a Ru-Naphthyridine Complex. ⁶¹	Mizukawa T...Tanaka K	29711636	1999
40	Lewis Acid Activation and Catalysis of Dialkylaminyl Radical Reactions. ⁶¹	Ha C...Newcomb M	11671628	1997
41	Potentiometric response of poly(3-octylthiophene), poly(3-methylthiophene) and polythiophene in aqueous solutions. ⁶¹	Bobacka J...Ivaska A	18965803	1993
42	Anionic responses of electrochemically synthesized polypyrrole films. ⁶¹	Cadogan A...Ivaska A	18965426	1992
43	[Status of hepatic blood flow in patients with tuberculosis during electroanesthesia and operations on the lungs]. ⁶¹	Muratkhanov EZh...Kliudt KA	2080157	1990

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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	PubmedIds
1	PISD	Phosphatidylserine Decarboxylase	Protein Coding	1007.61	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	3561949 30488656 31263216 (more) 30858161

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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		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>A	SNV	Pathogenic/Likely pathogenic	599404		22:32017315-32017315	22:31621329-31621329

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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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⁷⁴ Wikipedia

Liberfarb Syndrome (LIBF)

Aliases & Classifications for Liberfarb Syndrome

MalaCards integrated aliases for Liberfarb Syndrome:

Characteristics:

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

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

MalaCards 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:

Expression for Liberfarb Syndrome

Pathways for Liberfarb Syndrome

GO Terms for Liberfarb Syndrome

Sources for Liberfarb Syndrome