MCID: GRG001
MIFTS: 54

Greig Cephalopolysyndactyly Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Greig Cephalopolysyndactyly Syndrome:

Name: Greig Cephalopolysyndactyly Syndrome 49 10 11 21 45 22 23 47 12 51 36
Cephalopolysyndactyly Syndrome 21 22 23
Greig Syndrome 45 22 23
Gcps 45 51 67
Greig Cephalopolysyndactyly Syndrome 23 24
 
Polysyndactyly with Peculiars Skull Shape 10
Polysyndactyly with Peculiar Skull Shape 45
Greig Cephalo-Poly-Syndactyly Syndrome 67
Aarskog Syndrome 65

Characteristics:

Orphanet epidemiological data:

51
greig cephalopolysyndactyly syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal

HPO:

61
greig cephalopolysyndactyly syndrome:
Onset and clinical course: variable expressivity
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 175700
Disease Ontology10 DOID:14761
MeSH36 C537300
NCIt42 C35255
Orphanet51 380
SNOMED-CT59 32985001
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C537300
UMLS via Orphanet66 C0265306
MedGen34 C0265306
UMLS65 C0265306

Summaries for Greig Cephalopolysyndactyly Syndrome

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NIH Rare Diseases:45 Greig cephalopolysyndactyly syndrome (gcps) is a congenital disorder that affects development of the limbs, head, and face. findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).the features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. progression of gcps is dependent on severity. greig cephalopolysyndactyly syndrome is caused by mutations in the gli3 gene. this condition is inherited in an autosomal dominant pattern. treatment is symptomatic. last updated: 12/10/2015

MalaCards based summary: Greig Cephalopolysyndactyly Syndrome, also known as cephalopolysyndactyly syndrome, is related to polydactyly and synostosis, and has symptoms including preaxial foot polydactyly, 1-3 toe syndactyly and postaxial hand polydactyly. An important gene associated with Greig Cephalopolysyndactyly Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways are Hedgehog signaling events mediated by Gli proteins and Hedgehog Pathway. Affiliated tissues include limb, head and face, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:10 An acrocephalosyndactylia that has material basis in mutation in the GLI3 gene which results in abnormal development located in limb, located in head, located in face.

UniProtKB/Swiss-Prot:67 Greig cephalo-poly-syndactyly syndrome: Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.

Genetics Home Reference:23 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability.

OMIM:49 Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated... (175700) more...

Wikipedia:68 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and... more...

GeneReviews summary for NBK1446

Related Diseases for Greig Cephalopolysyndactyly Syndrome

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Graphical network of diseases related to Greig Cephalopolysyndactyly Syndrome:



Diseases related to greig cephalopolysyndactyly syndrome

Symptoms for Greig Cephalopolysyndactyly Syndrome

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Symptoms by clinical synopsis from OMIM:

175700

Clinical features from OMIM:

175700

Symptoms:

 51 (show all 24)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • postaxial polydactyly (hand)
  • preaxial polydactyly of toes/big toe duplication
  • autosomal dominant inheritance
  • frontal bossing/prominent forehead
  • high forehead
  • hypertelorism
  • telecanthus/canthal dystopy
  • broad nose/nasal bridge
  • syndactyly of fingers/interdigital palm
  • syndactyly of toes
  • advanced bone age
  • craniostenosis/craniosynostosis/sutural synostosis
  • umbilical hernia
  • preaxial polydactyly (hand)
  • broad/bifid thumb
  • postaxial polydactyly of toes/fifth supernumerary toe
  • broad/bifid big toe
  • diaphragmatic hernia/defect/agenesis
  • hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • insterstitial/subtelomeric microdeletion/deletion

HPO human phenotypes related to Greig Cephalopolysyndactyly Syndrome:

(show all 50)
id Description Frequency HPO Source Accession
1 preaxial foot polydactyly hallmark (90%) HP:0001841
2 1-3 toe syndactyly hallmark (90%) HP:0001459
3 postaxial hand polydactyly hallmark (90%) HP:0001162
4 macrocephaly hallmark (90%) HP:0000256
5 broad hallux 89% HP:0010055
6 wide nasal bridge 79% HP:0000431
7 postaxial hand polydactyly 78% HP:0001162
8 high forehead 70% HP:0000348
9 frontal bossing 58% HP:0002007
10 macrocephaly 53% HP:0000256
11 finger syndactyly typical (50%) HP:0006101
12 accelerated skeletal maturation typical (50%) HP:0005616
13 frontal bossing typical (50%) HP:0002007
14 preaxial foot polydactyly typical (50%) HP:0001841
15 toe syndactyly typical (50%) HP:0001770
16 telecanthus typical (50%) HP:0000506
17 abnormality of the nose typical (50%) HP:0000366
18 high forehead typical (50%) HP:0000348
19 hypertelorism typical (50%) HP:0000316
20 broad thumb frequent (33%) HP:0011304
21 broad hallux phalanx frequent (33%) HP:0010059
22 3-4 finger syndactyly frequent (33%) HP:0006097
23 cognitive impairment occasional (7.5%) HP:0100543
24 joint contracture of the hand occasional (7.5%) HP:0009473
25 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
26 accelerated skeletal maturation occasional (7.5%) HP:0005616
27 abnormality of muscle fibers occasional (7.5%) HP:0004303
28 hyperglycemia occasional (7.5%) HP:0003074
29 preaxial foot polydactyly occasional (7.5%) HP:0001841
30 camptodactyly of toe occasional (7.5%) HP:0001836
31 postaxial foot polydactyly occasional (7.5%) HP:0001830
32 abnormal heart morphology occasional (7.5%) HP:0001627
33 umbilical hernia occasional (7.5%) HP:0001537
34 craniosynostosis occasional (7.5%) HP:0001363
35 agenesis of corpus callosum occasional (7.5%) HP:0001274
36 intellectual disability, mild occasional (7.5%) HP:0001256
37 seizures occasional (7.5%) HP:0001250
38 preaxial hand polydactyly occasional (7.5%) HP:0001177
39 hirsutism occasional (7.5%) HP:0001007
40 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
41 downslanted palpebral fissures occasional (7.5%) HP:0000494
42 delayed cranial suture closure occasional (7.5%) HP:0000270
43 hydrocephalus occasional (7.5%) HP:0000238
44 hypospadias occasional (7.5%) HP:0000047
45 cryptorchidism occasional (7.5%) HP:0000028
46 inguinal hernia occasional (7.5%) HP:0000023
47 metopic synostosis rare (5%) HP:0011330
48 postaxial foot polydactyly rare (5%) HP:0001830
49 dolichocephaly HP:0000268
50 trigonocephaly HP:0000243

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

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Drugs for Greig Cephalopolysyndactyly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mentholapproved19992216-51-516666
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
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
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
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404

Search NIH Clinical Center for Greig Cephalopolysyndactyly Syndrome


Cochrane evidence based reviews: greig cephalopolysyndactyly syndrome

Genetic Tests for Greig Cephalopolysyndactyly Syndrome

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Genetic tests related to Greig Cephalopolysyndactyly Syndrome:

id Genetic test Affiliating Genes
1 Greig Cephalopolysyndactyly Syndrome22 GLI3

Anatomical Context for Greig Cephalopolysyndactyly Syndrome

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MalaCards organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

33
Skin, Eye, Bone, Heart, Breast, Lung, Monocytes

FMA organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

16
Limb, Head, Face

Animal Models for Greig Cephalopolysyndactyly Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Greig Cephalopolysyndactyly Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.2GLI2, GLI3, KIF7, MECOM
2MP:00053828.2GLI2, GLI3, KIF7, MECOM
3MP:00053888.1GLI2, GLI3, KIF7, MECOM

Publications for Greig Cephalopolysyndactyly Syndrome

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Articles related to Greig Cephalopolysyndactyly Syndrome:

(show all 30)
idTitleAuthorsYear
1
Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. (25714367)
2015
2
Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report. (25297527)
2014
3
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. (25606469)
2014
4
Crossed polydactyly and Greig cephalopolysyndactyly syndrome. (24222286)
2013
5
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. (21326280)
2011
6
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. (22043488)
2011
7
Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization. (19933491)
2009
8
The clinical atlas of Greig cephalopolysyndactyly syndrome. (18241058)
2008
9
The Greig cephalopolysyndactyly syndrome. (18435847)
2008
10
Greig cephalopolysyndactyly syndrome in a family. (16927636)
2006
11
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). (16829355)
2006
12
Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations. (16912002)
2006
13
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. (12575660)
2003
14
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. (12794692)
2003
15
A Turkish family with Greig cephalopolysyndactyly syndrome. (10770668)
1999
16
Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. (9520255)
1997
17
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. (8985483)
1996
18
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature. (8205322)
1994
19
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. (8001967)
1994
20
Greig Cephalopolysyndactyly Syndrome (20301619)
1993
21
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. (8387379)
1993
22
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). (1322743)
1992
23
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome. (1662666)
1991
24
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). (3239570)
1988
25
The occurrence of a fibro-osseous lesion and multiple dental anomalies in a patient with the Greig cephalopolysyndactyly syndrome. (2847100)
1988
26
The Greig cephalopolysyndactyly syndrome. (3025136)
1986
27
Greig cephalopolysyndactyly syndrome. Report of a sporadic case. (3007398)
1985
28
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. (3901752)
1985
29
The Greig cephalopolysyndactyly syndrome in a Canadian family. (6295159)
1982
30
Greig cephalopolysyndactyly syndrome. (223435)
1979

Variations for Greig Cephalopolysyndactyly Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

67
id Symbol AA change Variation ID SNP ID
1GLI3p.Cys515GlyVAR_010053
2GLI3p.Cys520TyrVAR_010054
3GLI3p.Pro707SerVAR_010055
4GLI3p.Ile808MetVAR_010056rs62622373
5GLI3p.Arg625TrpVAR_021481
6GLI3p.Ala934ProVAR_021482rs28933372

Clinvar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GLI3GLI3, DELdeletionPathogenic
2GLI3NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter)single nucleotide variantPathogenicrs121917711GRCh37Chr 7, 42018218: 42018218
3GLI3NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp)single nucleotide variantPathogenicrs121917712GRCh37Chr 7, 42012166: 42012166
4GLI3NM_000168.5(GLI3): c.868C> T (p.Arg290Ter)single nucleotide variantPathogenicrs121917713GRCh37Chr 7, 42079797: 42079797
5GLI3NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter)single nucleotide variantPathogenicrs121917714GRCh37Chr 7, 42007251: 42007251
6GLI3NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter)single nucleotide variantPathogenicrs121917715GRCh37Chr 7, 42063078: 42063078
7GLI3NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser)single nucleotide variantPathogenicrs121917716GRCh37Chr 7, 42007506: 42007506
8GLI3GLI3, 4-BP DEL, 4542CCACdeletionPathogenic
9GLI3GLI3, 1-BP DEL, 1018AdeletionPathogenic

Expression for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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Search GEO for disease gene expression data for Greig Cephalopolysyndactyly Syndrome.

Pathways for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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GO Terms for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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Cellular components related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonemeGO:00059309.6GLI2, GLI3

Biological processes related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1spinal cord dorsal/ventral patterningGO:002151310.2GLI2, GLI3
2spinal cord motor neuron differentiationGO:002152210.0GLI2, GLI3
3embryonic digestive tract developmentGO:004856610.0GLI2, GLI3
4embryonic digit morphogenesisGO:004273310.0GLI2, GLI3
5developmental growthGO:004858910.0GLI2, GLI3
6anterior/posterior pattern specificationGO:00099529.9GLI2, GLI3
7neural tube developmentGO:00219159.9GLI2, GLI3
8smoothened signaling pathwayGO:00072249.8GLI2, GLI3
9kidney developmentGO:00018229.6GLI2, GLI3
10proximal/distal pattern formationGO:00099549.6GLI2, GLI3
11mammary gland developmentGO:00308799.5GLI2, GLI3
12branching morphogenesis of an epithelial tubeGO:00487549.3GLI2, GLI3
13positive regulation of transcription, DNA-templatedGO:00458939.2GLI2, GLI3, MECOM

Sources for Greig Cephalopolysyndactyly Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet