MCID: SML020
MIFTS: 36

Small Patella Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Small Patella Syndrome

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Aliases & Descriptions for Small Patella Syndrome:

Name: Small Patella Syndrome 52 48 24 70 12 68
Ischiopatellar Dysplasia 48 70 27
Scott-Taor Syndrome 48 70
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 48
Patella Aplasia, Coxa Vara, and Tarsal Synostosis 70
Patella Aplasia, Coxa Vara, Tarsal Synostosis 48
 
Ischiocoxopodopatellar Syndrome 70
Coxo-Podo-Patellar Syndrome 48
Coxopodopatellar Syndrome 70
Icpps 70
Sps 70

Characteristics:

HPO:

64
small patella syndrome:
Inheritance: autosomal dominant inheritance
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 147891
MedGen37 C1840061
MeSH39 D001848

Summaries for Small Patella Syndrome

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UniProtKB/Swiss-Prot:70 Ischiocoxopodopatellar syndrome: An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.

MalaCards based summary: Small Patella Syndrome, also known as ischiopatellar dysplasia, is related to stiff-person syndrome and hyperlipidemia type 3, and has symptoms including patellar aplasia, abnormality of the hip bone and cleft palate. An important gene associated with Small Patella Syndrome is TBX4 (T-Box 4). Affiliated tissues include bone, and related mouse phenotype limbs/digits/tail.

Description from OMIM:52 147891

Related Diseases for Small Patella Syndrome

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Graphical network of the top 20 diseases related to Small Patella Syndrome:



Diseases related to small patella syndrome

Symptoms & Phenotypes for Small Patella Syndrome

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Symptoms by clinical synopsis from OMIM:

147891

Clinical features from OMIM:

147891

Human phenotypes related to Small Patella Syndrome:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 patellar aplasia64 hallmark (90%) HP:0006443
2 abnormality of the hip bone64 typical (50%) HP:0003272
3 cleft palate64 HP:0000175
4 high palate64 HP:0000218
5 micrognathia64 HP:0000347
6 pes planus64 HP:0001763
7 sandal gap64 HP:0001852
8 patellar dislocation64 HP:0002999
9 patellar hypoplasia64 HP:0003065
10 flat capital femoral epiphysis64 HP:0003370
11 wide capital femoral epiphyses64 HP:0008784
12 hypoplasia of the lesser trochanter64 HP:0008801
13 coxa vara64 HP:0002812
14 talocalcaneal synostosis64 HP:0005682

MGI Mouse Phenotypes related to Small Patella Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1SOX9, TBX4

Drugs & Therapeutics for Small Patella Syndrome

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Drugs for Small Patella Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetaminophenapprovedPhase 4978103-90-21983
Synonyms:
4'-Hydroxyacetanilide
4'-hydroxyacetanilide
4-(Acetylamino)phenol
4-Acetamidophenol
4-Acetaminophenol
4-Hydroxyacetanilide
4-Hydroxyanilid kyseliny octove
4-acetamidophenol
A-Per
A.F. Anacin
AC1Q1KYJ
AC1Q1KYK
APAP
Abenol
Abensanil
Abrol
Abrolet
Acamol
Accu-Tap
Acenol
Acephen
Acertol
Aceta Elixir
Aceta Tablets
Acetaco
Acetagesic
Acetalgin
Acetaminofen
Acetaminophen
Acetaminophen Uniserts
Acetamol
Acetavance
Acetofen
Actamin
Actamin Extra
Actamin Super
Actifed Plus
Actimol
Actimol Chewable Tablets
Actimol Children'S Suspension
Actimol Infants' Suspension
Actimol Junior Strength Caplets
Actron
Afebrin
Afebryl
Aferadol
Algesidal
Algina
Algomol
Algotropyl
Allay
Alpiny
Alpinyl
Alvedon
Amadil
Aminofen
Aminofen Max
Anacin
Anacin 3
Anacin-3
Anacin-3 Extra Strength
Anadin dla dzieci
Anaflon
Analter
Anapap
Andox
Anelix
Anexsia
Anexsia 10/660
Anexsia 5/325
Anexsia 7.5/325
Anexsia 7.5/650
Anhiba
Anoquan
Anti-Algos
Antidol
Anuphen
Apacet
Apacet Capsules
Apacet Elixir
Apacet Extra Strength Caplets
Apacet Extra Strength Tablets
Apacet Regular Strength Tablets
Apadon
Apamid
Apamide
Apitrelal
Apo-Acetaminophen
Arfen
Arthralgen
Asetam
Asomal
Aspac
Aspirin Free Anacin Maximum Strength Caplets
Aspirin Free Anacin Maximum Strength Gel Caplets
Aspirin Free Anacin Maximum Strength Tablets
Aspirin-Free Anacin
Aspirin-Free Excedrin Caplets
Asplin
Atasol
Atasol Caplets
Atasol Drops
Atasol Forte Caplets
Atasol Forte Tablets
Atasol Oral Solution
Atasol Tablets
Atralidon
Babikan
Bacetamol
Bancap
Bancap Hc
Banesin
Bayer Select
Bayer Select Allergy-Sinus
Bayer Select Head Cold
Bayer Select Headache Pain
Bayer Select Maximum Strength Headache Pain Relief Formula
Bayer Select Menstrual Multi-Symptom
Bayer Select Sinus Pain Relief
Ben-u-ron
Benmyo
Bickie-mol
Biocetamol
Bucet
Butalbital
Butapap
CCRIS 3
CHEBI:46195
Cadafen
Calapol
Calmanticold
Calonal
Calpol
Capital
Capital with Codeine
Captin
Causalon
Cefalex
Cetadol
Children'S Acetaminophen Elixir Drops
Children'S Acetaminophen Oral Solution
Children'S Tylenol Chewable
Claradol Codeine
Clixodyne
Co-Gesic
Cod-Acamol Forte
Codabrol
Codalgin
Codapane
Codicet
Codisal
Codisal Forte
Codoliprane
Codral Pain Relief
Cofamol
Conacetol
Contac Cough & Sore Throat Formula
Contra-Schmerz P
Coricidin
Coricidin D
Coricidin Sinus
Cosutone
Croix Blanche
Cuponol
Curadon
Curpol
Custodial
D oliprane
Dafalgan
Dapa
Dapa X-S
Darocet
Darvocet
Darvocet-N 50
Datril
Datril Extra-Strength
Daygrip
Demilets
Deminofen
Democyl
Demogripal
Desfebre
Dhamol
Dhc Plus
Dial-a-gesic
Dial-alpha-gesic
Dimindol
Dirox
Disprol
Dol-Stop
Dolcor
Dolefin
Dolegrippin
Dolene AP-65
Dolene Ap-65
Dolgesic
Doliprane
Dolko
Dolofugin
Doloreduct
Dolorfug
Dolorol Forte
Dolorstop
Dolotec
Dolprone
Dorocoff
Dresan
Dristan Cold No Drowsiness
Dristancito
Drixoral Plus
Duaneo
Dularin
Duorol
Duracetamol
Duradyne Dhc
Durapan
Dymadon
Dymadon Co
Dymadon Forte
Dypap
Ecosetol
Elixodyne
Empracet
Endecon
Enelfa
Eneril
Esgic
Esgic-Plus
Eu-Med
Excedrin
Excedrin Caplets
Excedrin Extra Strength Caplets
Excipain
Exdol
Exdol Strong
Fanalgic
Farmadol
Febranine
Febrectal
Febrectol
Febrex
Febricet
Febridol
Febrilix
Febrin
Febrinol
Febro-Gesic
Febrolin
Femcet
Fendon
Fensum
Fepanil
Fever All
Feverall
Feverall Junior Strength
Feverall Sprinkle Caps Junior Strength
Fevor
Finimal
Finiweh
Fioricet
Fluparmol
Fortalidon P
Freka-cetamol
Gattaphen T
Gelocatil
Geluprane
Genapap
Genapap Children'S Elixir
Genapap Children'S Tablets
Genapap Extra Strength Caplets
Genapap Extra Strength Tablets
Genapap Regular Strength Tablets
Genebs
Genebs Extra Strength Caplets
Genebs Regular Strength Tablets
Genebs X-Tra
Geralgine-P
Gripin Bebe
Grippostad
Gynospasmine
Hedex
Helon N
Homoolan
Hy-Phen
Hycomine Compound
Hydrocet
Ildamol
Inalgex
Infadrops
Infants' Feverall
Influbene N
Injectapap
Intensin
Janupap
Jin Gang
Junior Disprol
KBio1_000660
Kataprin
Kinder Finimal
Korum
Kratofin simplex
L024125
Labamol
Lekadol
Lemgrip
Lemsip
Lestemp
Liqiprine
Liquagesic
Liquigesic Co
Liquiprin
Liquiprin Children'S Elixir
Liquiprin Infants" Drops
Lonarid
Lonarid Mono
Lorcet-Hd
Lortab
Lupocet
Lyteca
Lyteca Syrup
Magnidol
Malex N
Malgis
Malidens
Maxadol
Medigesic Plus
Medinol Paediatric
Medocodene
Melabon Infantil
Mexalen
Midol Maximum Strength
Midol PM Night Time Formula
Midol Regular Strength
Midol Teen Formula
Migraleve Yellow
Minafen
Minoset
Miralgin
Momentum
Mono Praecimed
 
Multin
N-(4-Hydroxyphenyl)acetamide
N-Acetyl-4-aminophenol
N-Acetyl-p-aminophenol
N-acetyl-p-aminophenol
NAPA
NCX 701
NEBS
NSC3991
Naldegesic
Napafen
Napap
Naprinol
Nealgyl
Nebs
Neo-Fepramol
NeoCitran
Neodol
Neodolito
Neopap
Neotrend
Neuridon
New Cortal for Children
NilnOcen
Nina
No-Febril
Nobedon
Nodolex
Noral
Norcet
Norco
O-Acetaminophenol
Ofirmev
Oltyl
Oralgan
Oraphen-PD
Ortensan
Oxycet
Oxycocet
Oxycodone 2.5/Apap 500
Oxycodone 5/Apap 500
PCM Paracetamol Lichtenstein
Paceco
Pacemo
Pacemol
Pacet
Pacimol
Paedialgon
Paedol
Painex
Paldesic
Pamol
Panacete
Panadeine
Panadeine Co
Panadiene
Panado-Co
Panado-Co Caplets
Panadol
Panadol Extra Strength
Panadol Junior Strength Caplets
Panadol Maximum Strength Caplets
Panadol Maximum Strength Tablets
Panale ve
Panaleve
Panamax
Panasorb
Panasorbe
Panets
Panex
Panodil
Panofen
Pantalgin
Papa-Deine
Papa-Deine #3
Papa-Deine #4
Para-Suppo
Para-Tabs
Paracemol
Paracenol
Paracet
Paracetamol
Paracetamol AL
Paracetamol Antipanin P
Paracetamol BC
Paracetamol Basics
Paracetamol DC
Paracetamol Dr. Schmidgall
Paracetamol Fecofar
Paracetamol Genericon
Paracetamol Hanseler
Paracetamol Harkley
Paracetamol Heumann
Paracetamol Hexal
Paracetamol Italfarmaco
Paracetamol Nycomed
Paracetamol PB
Paracetamol Raffo
Paracetamol Ratiopharm
Paracetamol Rosch
Paracetamol Saar
Paracetamol SmithKline Beecham
Paracetamol Stada
Paracetamol Winthrop
Paracetamol von ct
Paracetamole
Paracetamolo
Paracetamolum
Paracetanol
Paracetol
Paracin
Paracod
Paracodol
Paracétamol
Parador
Paradrops
Parakapton
Parake
Paralen
Paralief
Paralink
Paralyoc
Paramol
Paramolan
Paranox
Parapan
Parasedol
Parasin
Paraspen
Parcetol
Parelan
Parmol
Parogal
Paroma
Pasolind
Pasolind N
Pe-Tam
Pediapirin
Pediatrix
Pedric
Percocet
Percocet-5
Percocet-Demi
Percogesic with Codeine
Perdolan Mono
Perfalgan
Phenaphen
Phenaphen Caplets
Phenaphen W/Codeine
Phendon
Phenipirin
Phogoglandin
Phrenilin
Phrenilin Forte
Pinex
Piramin
Pirinasol
Plicet
Polmofen
Predimol
Predualito
Prestwick_13
Prodol
Prompt
Prontina
Propacet
Propacet 100
Proval #3
Puernol
Pulmofen
Pyregesic-C
Pyrigesic
Pyrinazine
Pyromed
Quiet World
Redutemp
Reliv
Remedol
Rhinex D-Lay Tablets
Rivalgyl
Robigesic
Robitussin Night Relief
Rockamol Plus
Rounox
Roxicet
Roxicet 5/500
Roxilox
RubieMol
Rubophen
Rupemol
SK-Apap
SPBio_002836
Salzone
Sanicet
Sanicopyrine
Scanol
Scentalgyl
Scherzatabletten Rezeptur 534
Schmerzex
Sedalito
Sedapap
Semolacin
Servigesic
Seskamol
Setakop
Setamol
Setol
Sifenol
Sinaspril
Sine-Off Sinus Medicine Caplets
Sinedol
Sinmol
Sinubid
Snaplets-FR
Spalt N
Spalt fur die nacht
St Joseph Aspirin-Free
St Joseph Aspirin-Free for Children
St. Joseph Cold Tablets for Children
St. Joseph Fever Reducer
Stanback
Stopain
Sudafed Severe Cold Formula
Sudafed Sinus
Sunetheton
Supac
Supadol mono
Supofen
Suppap
Suppap-120
Suppap-325
Suppap-650
Supramol-M
Synalgos-Dc-A
TYL
Tabalgin
Tachiprina
Talacen
Tapanol
Tapanol Extra Strength Caplets
Tapanol Extra Strength Tablets
Tapar
Tavist Allergy/Sinus/Headache
Tazamol
Temlo
Tempanal
Tempra
Tempra Caplets
Tempra Chewable Tablets
Tempra D.S
Tempra Drops
Tempra Syrup
Tencon
Termacet
Termalgin
Termalgine
Termofren
TheraFlu
Tibinide
Tibizide
Tiffy
Tisin
Tisiodrazida
Titralgan
Tizide
Tocris-1706
Toximer P
Tralgon
Treupel N
Treupel mon
Treuphadol
Triad
Triaminic Sore Throat Formula
Triaprin
Tricoton
Tussapap
Ty lenol
Tycolet
Tylenol
Tylenol (TN)
Tylenol Allergy Sinus
Tylenol Arthritis Extended Relief
Tylenol Caplets
Tylenol Children'S Chewable Tablets
Tylenol Children'S Elixir
Tylenol Children'S Suspension Liquid
Tylenol Drops
Tylenol Elixir
Tylenol Extra Strength Adult Liquid Pain Reliever
Tylenol Extra Strength Caplets
Tylenol Extra Strength Gelcaps
Tylenol Extra Strength Tablets
Tylenol Gelcaps
Tylenol Infants Drops
Tylenol Infants" Suspension Drops
Tylenol Junior Strength Caplets
Tylenol Junior Strength Chewable Tablets
Tylenol Regular Strength Caplets
Tylenol Regular Strength Tablets
Tylenol Tablets
Tylex
Tylex CD
Tylol
Tylox
Tylox-325
Tymol
Ultracet
Upsanol
Utragin
Valadol
Valgesic
Valorin
Valorin Extra
Vanquish
Veralgina
Vermidon
Verpol
Viclor Richet
Vicodin
Vicodin Es
Vicodin Hp
Vips
Viruflu
Vivimed
Volpan
Wygesic
Zatinol
Zolben
acetaminofén
acétaminophène
alpha-Per
p-(Acetylamino)phenol
p-Acetamidophenol
p-Acetaminophenol
p-Acetylaminophenol
p-Hydroxyacetanilide
p-Hydroxyphenolacetamide
p-acetamidophenol
p-acetaminophenol
p-hydroxy-acetanilid
p-hydroxyacetanilide
p-hydroxyphenolacetamide
2AntipyreticsPhase 41534
3Peripheral Nervous System AgentsPhase 422776
4Analgesics, Non-NarcoticPhase 46260
5AnalgesicsPhase 411287
6
Hyaluronic acidapproved, vet_approved4399004-61-953477741, 24759
Synonyms:
Hyaluronan
Hyaluronate
Hyaluronic acid
Hylartil
Hyruan Plus
Luronit
 
Macronan
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sofast
Synvisc
7
Povidone-iodineapproved15525655-41-8
Synonyms:
 
Betadine
8
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
9Viscosupplements364
10Hylan45
11Adjuvants, Immunologic2484
12Protective Agents7190
13
s 1 (combination)364
Synonyms:
 
Gimeracil / oteracil / tegafur
TS 1
14Chelating Agents1365
15Dermatologic Agents5674
16Antipruritics864

Interventional clinical trials:

idNameStatusNCT IDPhase
1Close Kinect Chain Exercise With Kinesio Taping in the Management of Patellofemoral Pain SyndromeUnknown statusNCT02241148Phase 4
2Randomized Evaluation of the Efficacy of Synvisc-One® for the Treatment of Patellofemoral ChondromalaciaUnknown statusNCT01771952
3Study of Heritable Connective Tissue DisordersCompletedNCT00001641
4Efficiency of Patellar Taping in Treatment of Patellofemoral Pain SyndromeCompletedNCT01504100
5Changes in Quadriceps Function Following Local or Distant Interventions in Individuals With Patellofemoral PainCompletedNCT01434966
6Early Intervention for Adolescents With Patellofemoral Pain SyndromeCompletedNCT01438762
7Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
8Bracing for Patellofemoral OsteoarthritisNot yet recruitingNCT02984254

Search NIH Clinical Center for Small Patella Syndrome

Genetic Tests for Small Patella Syndrome

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Genetic tests related to Small Patella Syndrome:

id Genetic test Affiliating Genes
1 Ischiopatellar Dysplasia27
2 Small Patella Syndrome24 TBX4

Anatomical Context for Small Patella Syndrome

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MalaCards organs/tissues related to Small Patella Syndrome:

36
Bone

Publications for Small Patella Syndrome

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Articles related to Small Patella Syndrome:

idTitleAuthorsYear
1
Small patella syndrome. (27344077)
2016
2
Magnetic Resonance Imaging Findings in Small Patella Syndrome. (26955616)
2016
3
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. (24038782)
2013
4
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. (23592887)
2013
5
Medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome. (24200447)
2013
6
Mutations in the human TBX4 gene cause small patella syndrome. (15106123)
2004
7
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. (11303519)
2001
8
Waardenburg syndrome type I and small patella syndrome in the same patient. (10618897)
1999
9
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. (9133358)
1997
10
Small patella syndrome. (7573128)
1995

Variations for Small Patella Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Small Patella Syndrome:

70
id Symbol AA change Variation ID SNP ID
1TBX4p.Gly248ValVAR_026745rs28938474
2TBX4p.Gln531ArgVAR_026746rs28936696

Clinvar genetic disease variations for Small Patella Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TBX4NM_018488.3(TBX4): c.743G> T (p.Gly248Val)SNVPathogenicrs28938474GRCh37Chr 17, 59557282: 59557282
2TBX4NM_018488.3(TBX4): c.184C> T (p.Gln62Ter)SNVPathogenicrs104894648GRCh37Chr 17, 59534035: 59534035
3TBX4NM_018488.3(TBX4): c.1592A> G (p.Gln531Arg)SNVPathogenicrs28936696GRCh37Chr 17, 59560831: 59560831

Expression for genes affiliated with Small Patella Syndrome

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Search GEO for disease gene expression data for Small Patella Syndrome.

Pathways for genes affiliated with Small Patella Syndrome

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GO Terms for genes affiliated with Small Patella Syndrome

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Molecular functions related to Small Patella Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, sequence-specific DNA bindingGO:00037009.1SOX9, TBX4

Sources for Small Patella Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet