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

LIBF MCID: LBR035 MIFTS: 27	Liberfarb Syndrome (LIBF) Categories: 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 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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618889

MeSH ⁴⁴ D000015 D010009

MedGen ⁴¹ C5394404 CN281158

SNOMED-CT via HPO ⁶⁸ 111266001 224958001 228156007 more

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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 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.

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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	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:

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Symptoms & Phenotypes for Liberfarb Syndrome

Human phenotypes related to Liberfarb Syndrome:

³¹ (show all 12)

#	Description	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)

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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

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Anatomical Context for Liberfarb Syndrome

MalaCards organs/tissues related to Liberfarb Syndrome:

⁴⁰

Eye, Retina, Bone, Brain

Sources

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	Peter VG...Campos-Xavier B	31263216	2019
2	PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. ⁶ ⁵⁷	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. ⁶ ⁵⁷	Girisha KM...Mortier G	30488656	2019
4	Tapetoretinal degeneration associated with multisystem abnormalities. A case report. ⁵⁷ ⁶	Liberfarb RM...Hirose T	3561949	1986
5	Hopping in High Concentration Electrolytes - Long Time Bulk and Single-Particle Signatures, Free Energy Barriers, and Structural Insights. ⁶¹	Mukherji S...Balasubramanian S	33125248	2020
6	Anion Intercalation into a Graphite Electrode from Trimethyl Phosphate. ⁶¹	Zhang L...Wang H	33030890	2020
7	Investigation on the Copolymer Electrolyte of Poly(1,3-dioxolane-co-formaldehyde). ⁶¹	Liu F...Li L	32249484	2020
8	Effect of Liquid Electrolyte Soaking on the Interfacial Resistance of Li7La3Zr2O12 for All-Solid-State Lithium Batteries. ⁶¹	Besli MM...Kuppan S	32286048	2020
9	Solvate Cation Migration and Ion Correlations in Solvate Ionic Liquids. ⁶¹	Schmidt F...Schonhoff M	31990553	2020
10	Mechanism of Stability Enhancement for Adiponitrile High Voltage Electrolyte System Referring to Addition of Fluoroethylene Carbonate. ⁶¹	Fang Z...Li L	33134282	2020
11	Surface Chemistry Dependence on Aluminum Doping in Ni-rich LiNi0.8Co0.2-yAlyO2 Cathodes. ⁶¹	Lebens-Higgins ZW...Piper LFJ	31776363	2019
12	Anion Storage Behavior of Graphite Electrodes in LiBF4/Sulfone/Ethyl Methyl Carbonate Solutions. ⁶¹	Wang Y...Wang H	31660747	2019
13	Stable 2D Heteroporous Covalent Organic Frameworks for Efficient Ionic Conduction. ⁶¹	Xie Z...Chen L	31433550	2019
14	Preparation and Properties of a High-Performance EOEOEA-Based Gel-Polymer-Electrolyte Lithium Battery. ⁶¹	Ding W...Zang L	31382419	2019
15	Degradation Mechanism of Conversion-Type Iron Trifluoride: Toward Improvement of Cycle Performance. ⁶¹	Senoh H...Matsubara E	31390177	2019
16	Synergetic Effect of Ethyl Methyl Carbonate and Trimethyl Phosphate on BF4- Intercalation into a Graphite Electrode. ⁶¹	Zhang L...Wang H	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	Zhao K...Ba X	30960428	2019
18	Direct Evidence for Li Ion Hopping Conduction in Highly Concentrated Sulfolane-Based Liquid Electrolytes. ⁶¹	Dokko K...Watanabe M	30403858	2018
19	A new route to synthesize aryl acetates from carbonylation of aryl methyl ethers. ⁶¹	Mei Q...Han B	29795781	2018
20	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
21	X-ray Raman spectroscopy of lithium-ion battery electrolyte solutions in a flow cell. ⁶¹	Ketenoglu D...Yavas H	29488934	2018
22	Liquid Quinones for Solvent-Free Redox Flow Batteries. ⁶¹	Shimizu A...Yoshida JI	28885728	2017
23	Fluoride substitution in LiBH4; destabilization and decomposition. ⁶¹	Richter B...Jensen TR	29104996	2017
24	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
25	Kinetics Tuning the Electrochemistry of Lithium Dendrites Formation in Lithium Batteries through Electrolytes. ⁶¹	Tao R...Lu J	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	Freitag KM...Nilges T	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	Wang L...Fenske D	27785499	2016
28	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
29	Effect of lithium salt on the stability of dispersions of fumed silica in the ionic liquid BMImBF4. ⁶¹	Nordstrom J...Matic A	22300339	2012
30	Microscopic structure and dynamics of LiBF4 solutions in cyclic and linear carbonates. ⁶¹	Postupna OO...Prezhdo OV	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	Pujala B...Chakraborti AK	21899254	2011
32	Nickel-catalyzed Negishi cross-coupling reactions of secondary alkylzinc halides and aryl iodides. ⁶¹	Joshi-Pangu A...Biscoe MR	21309529	2011
33	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
34	Inclusion and dynamics of a polymer-Li salt complex in coordination nanochannels. ⁶¹	Yanai N...Kitagawa S	21203630	2011
35	Alkali metal ions as probes of structure and recognition properties of macrocyclic pyridyl urea hosts. ⁶¹	Roy K...Shimizu LS	20704422	2010
36	Synthesis and characterization of a cationic ruthenium complex featuring an unusual Bis(eta2-BH) monoborane ligand. ⁶¹	Hesp KD...Stradiotto M	18671344	2008
37	Structure and inter-phase stability in solvent-free low-dimensional polymer electrolytes with high lithium conductivity. ⁶¹	Zheng Y...Wright PV	15452630	2004
38	Platinum and palladium imido and oxo complexes with small natural bite angle diphosphine ligands. ⁶¹	Anandhi U...Sharp PR	12588167	2003
39	Stabilization of molecular LiF and LiFHF inside metallamacrocyclic hosts. ⁶¹	Lehaire ML...Severin K	12377041	2002
40	Synthesis of [5'-13C]ribonucleosides and 2'-deoxy[5'-13C]ribonucleosides. ⁶¹	Kawashima E...Sekine T	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	Paquette LA...Tae J	11457325	2001
42	Selective Production of Acetone in the Electrochemical Reduction of CO2 Catalyzed by a Ru-Naphthyridine Complex. ⁶¹	Mizukawa T...Tanaka K	29711636	1999
43	Lewis Acid Activation and Catalysis of Dialkylaminyl Radical Reactions. ⁶¹	Ha C...Newcomb M	11671628	1997
44	Potentiometric response of poly(3-octylthiophene), poly(3-methylthiophene) and polythiophene in aqueous solutions. ⁶¹	Bobacka J...Ivaska A	18965803	1993
45	Anionic responses of electrochemically synthesized polypyrrole films. ⁶¹	Cadogan A...Ivaska A	18965426	1992
46	[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	PubMed IDs
1	PISD	Phosphatidylserine Decarboxylase	Protein Coding	907.54	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	31263216 3561949

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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	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

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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

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁷⁴ Wikipedia

Liberfarb Syndrome (LIBF)

Aliases & Classifications for Liberfarb Syndrome

MalaCards integrated aliases for Liberfarb Syndrome:

Characteristics:

OMIM®:

HPO:

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

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