MCID: DST002
MIFTS: 54

Distal Arthrogryposis malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Muscle diseases

Aliases & Classifications for Distal Arthrogryposis

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Distal Arthrogryposis:

Name: Distal Arthrogryposis 10 12 24
Freeman-Sheldon Syndrome 10 22 23 51 65
Craniocarpotarsal Dysplasia 45 22 23 51
Arthrogryposis Multiplex Congenita 10 45 24
Craniocarpotarsal Dystrophy 45 23 51
Whistling Face Syndrome 22 23 51
Arthrogryposis 45 47 65
Da2a 45 22 23
Whistling Face-Windmill Vane Hand Syndrome 45 23
Distal Arthrogryposis Type 2a 22 51
Fss 45 23
Fibrous Ankylosis of Multiple Joints 45
Congenital Multiple Arthrogryposis 45
Freeman-Sheldon Syndrome Variant 10
 
Myodystrophia Fetalis Deformans 45
Arthrogryposis, Distal, Type 2b 65
Distal Arthrogryposis Syndrome 65
Distal Arthrogryposis, Type 2a 23
Congenital Arthromyodysplasia 45
Arthrogryposis Distal Type 2a 45
Freeman Sheldon Syndrome 45
Rocher-Sheldon Syndrome 45
Guérin-Stern Syndrome 45
Guerin-Stern Syndrome 45
Sheldon-Hall Syndrome 10
Rossi Syndrome 45
Otto Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
freeman-sheldon syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0050646
Orphanet51 2053
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C535483
UMLS via Orphanet66 C0265224
ICD1027 Q74.3
UMLS65 C0265213, C0003886, C0265224 C1834523, more

Summaries for Distal Arthrogryposis

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NIH Rare Diseases:45 Arthrogryposis multiplex congenita (amc) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. a contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and may lead to muscle atrophy. amc is not a specific diagnosis, but rather a physical symptom that can be associated with many different medical conditions. it is suspected that amc is related to decreased fetal movement during development which can have a variety of different causes, including environmental factors (i.e. maternal illness, limited space), single gene changes (autosomal dominant, autosomal recessive, x-linked), chromosomal abnormalities and various syndromes. treatment varies based on the signs and symptoms found in each person, but may include physical therapy, removable splints, exercise, and/or surgery. last updated: 1/12/2015

MalaCards based summary: Distal Arthrogryposis, also known as freeman-sheldon syndrome, is related to arthrogryposis, distal, type 2b and arthrogryposis multiplex congenita neurogenic type, and has symptoms including low-set, posteriorly rotated ears, depressed nasal ridge and congenital diaphragmatic hernia. An important gene associated with Distal Arthrogryposis is ADGRG6 (Adhesion G Protein-Coupled Receptor G6), and among its related pathways are Tight junction and Translocation of GLUT4 to the plasma membrane. Affiliated tissues include bone, lung and eye, and related mouse phenotype muscle.

Disease Ontology:10 A muscle tissue disease characterized by congenital joint contractures of hand and feet.

Related Diseases for Distal Arthrogryposis

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Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 2a Arthrogryposis, Distal, Type 8
Arthrogryposis, Distal, Type 5 Arthrogryposis, Distal, Type 3

Diseases related to Distal Arthrogryposis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, distal, type 2b31.4ADGRG6, MYBPC1, MYH3, TNNI2, TNNT3, TPM2
2arthrogryposis multiplex congenita neurogenic type12.5
3whistling face syndrome, recessive form12.1
4distal arthrogryposis moore weaver type12.0
5richieri-costa colletto otto syndrome11.9
6arthrogryposis multiplex congenita, distal, type 111.6
7arthrogryposis, distal, type 511.6
8arthrogryposis, distal, type 5d11.5
9trismus-pseudocamptodactyly syndrome11.5
10arthrogryposis, distal, type 311.4
11arthrogryposis-like hand anomaly and sensorineural deafness11.3
12pseudohypoaldosteronism, type iie11.3
13arthrogryposis, distal, type 811.3
14contractural arachnodactyly, congenital11.3
15arthrogryposis multiplex congenita whistling face11.3
16arthrogryposis with oculomotor limitation and electroretinal anomalies11.2
17arthrogryposis-severe scoliosis syndrome11.1
18arthrogryposis, distal, type 1010.9
19spinal muscular atrophy, x-linked 2, infantile10.9
20arthrogryposis multiplex congenita, distal type 210.9
21ehlers-danlos syndrome, musculocontractural type10.9
22fetal akinesia deformation sequence10.6
23congenital disorder of glycosylation, type iid10.5MYH3, TPM2
24strongyloidiasis10.4TNNI2, TNNT3
25childhood-onset schizophrenia10.4ACTA1, TPM2
26tyrosine-oxidase temporary deficiency10.4ACTA1, TPM2
27carbon baby syndrome10.3ACTA1, TPM2
28hypertensive heart disease10.3ECEL1, TNNI2, TNNT3
29pyoderma10.2ACTA1, TPM2
30arthrogryposis, distal, type 1b10.1
31arthrogryposis, distal, type 2a10.1
32nemaline myopathy 4, autosomal dominant10.1MYH3, TNNI2, TNNT3, TPM2
33robinow syndrome10.1ACTA1, MYH6
34myopathy10.1
35cylindrical spirals myopathy10.0ACTA1, TNNI2, TNNT3, TPM2
36marden-walker syndrome10.0
37hydronephrosis10.0
38schimke immunoosseous dysplasia9.9RAPSN, TPM2
39prader-willi syndrome9.8
40velocardiofacial syndrome9.8
41dilated cardiomyopathy9.8
42ectodermal dysplasia9.8
43loeys-dietz syndrome9.8
44ptosis9.8
45juvenile glaucoma9.8
46clubfoot9.8
47ophthalmoplegia9.8
48neuronitis9.8
49hypopituitarism9.8
50aase-smith syndrome9.8

Graphical network of the top 20 diseases related to Distal Arthrogryposis:



Diseases related to distal arthrogryposis

Symptoms for Distal Arthrogryposis

About this section

Symptoms:

 51 (show all 33)
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • grooved/dimple chin
  • limited opening of the mouth
  • long/large/bulbous nose
  • broad nose/nasal bridge
  • broad nasal root
  • thin/hypoplastic ala nasi
  • microstomia/little mouth
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • scoliosis
  • camptodactyly of fingers
  • ulnar deviation of fingers
  • talipes-varus/metatarsal varus
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • deepset eyes/enophthalmos
  • strabismus/squint
  • ptosis
  • small/triangular nares/nostrils
  • long philtrum
  • hearing loss/hypoacusia/deafness
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • short stature/dwarfism/nanism
  • malignant hyperthermia
  • fetal immobility/abnormal fetal movements
  • herniae
  • absence of palmar creases
  • autosomal recessive inheritance
  • oligoamnios
  • polyhydramnios

HPO human phenotypes related to Distal Arthrogryposis:

(show all 38)
id Description Frequency HPO Source Accession
1 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
2 depressed nasal ridge hallmark (90%) HP:0000457
3 congenital diaphragmatic hernia hallmark (90%) HP:0000776
4 lymphedema hallmark (90%) HP:0001004
5 polyhydramnios hallmark (90%) HP:0001561
6 talipes hallmark (90%) HP:0001883
7 abnormality of the pleura hallmark (90%) HP:0002103
8 scoliosis hallmark (90%) HP:0002650
9 abnormality of the wrist hallmark (90%) HP:0003019
10 abnormality of the hip bone hallmark (90%) HP:0003272
11 abnormality of the gastric mucosa hallmark (90%) HP:0004295
12 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
13 ulnar deviation of finger hallmark (90%) HP:0009465
14 narrow mouth hallmark (90%) HP:0000160
15 abnormality of the teeth hallmark (90%) HP:0000164
16 trismus hallmark (90%) HP:0000211
17 hypertelorism hallmark (90%) HP:0000316
18 underdeveloped nasal alae hallmark (90%) HP:0000430
19 wide nasal bridge hallmark (90%) HP:0000431
20 downslanted palpebral fissures hallmark (90%) HP:0000494
21 limitation of joint mobility hallmark (90%) HP:0001376
22 chin dimple hallmark (90%) HP:0010751
23 camptodactyly of finger hallmark (90%) HP:0100490
24 cryptorchidism typical (50%) HP:0000028
25 long philtrum typical (50%) HP:0000343
26 hearing impairment typical (50%) HP:0000365
27 strabismus typical (50%) HP:0000486
28 deeply set eye typical (50%) HP:0000490
29 ptosis typical (50%) HP:0000508
30 prenatal movement abnormality typical (50%) HP:0001557
31 malignant hyperthermia typical (50%) HP:0002047
32 neurological speech impairment typical (50%) HP:0002167
33 short stature typical (50%) HP:0004322
34 abnormality of the nares typical (50%) HP:0005288
35 polyhydramnios occasional (7.5%) HP:0001561
36 oligohydramnios occasional (7.5%) HP:0001562
37 absent palmar crease occasional (7.5%) HP:0010489
38 hernia occasional (7.5%) HP:0100790

UMLS symptoms related to Distal Arthrogryposis:


ulnar deviation of the wrist, seizures, myalgia, muscle weakness, torticollis, muscle spasticity, muscle rigidity, muscle cramp, metatarsalgia, arthralgia

Drugs & Therapeutics for Distal Arthrogryposis

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Drugs for Distal Arthrogryposis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
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
2
Adenosineapproved, investigational36358-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
3Purinergic P1 Receptor Agonists131
4Vasodilator Agents2926
5Peripheral Nervous System Agents18510
6Anti-Arrhythmia Agents2371
7Analgesics9358
8Neurotransmitter Agents14795

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Power Mobility on Young Children With Severe Motor ImpairmentsCompletedNCT01028833Phase 2
2Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon SyndromeRecruitingNCT01144741
3Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsRecruitingNCT01306994
4Study of Quality of Life in Freeman-Sheldon Syndrome and Related ConditionsRecruitingNCT01307475
5Movement Enhancing Device for ChildrenRecruitingNCT01959581
6WREX Outcome StudyEnrolling by invitationNCT02218593

Search NIH Clinical Center for Distal Arthrogryposis

Genetic Tests for Distal Arthrogryposis

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Anatomical Context for Distal Arthrogryposis

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MalaCards organs/tissues related to Distal Arthrogryposis:

33
Bone, Lung, Eye, Testes, Heart, Breast, Thyroid

Animal Models for Distal Arthrogryposis or affiliated genes

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MGI Mouse Phenotypes related to Distal Arthrogryposis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.9ACTA1, ADGRG6, ECEL1, FBN2, MYH6, RAPSN

Publications for Distal Arthrogryposis

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Articles related to Distal Arthrogryposis:

(show top 50)    (show all 86)
idTitleAuthorsYear
1
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. (27214504)
2016
2
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. (25679999)
2015
3
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. (26374086)
2015
4
Correction: Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. (25951182)
2015
5
AMC: amyoplasia and distal arthrogryposis. (26537820)
2015
6
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (24726473)
2014
7
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. (25099528)
2014
8
Mutations in ECEL1 cause distal arthrogryposis type 5D. (23261301)
2013
9
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (23487782)
2013
10
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. (23829171)
2013
11
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. (23657818)
2013
12
Distal arthrogryposis: clinical and genetic findings. (22519952)
2012
13
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. (21531865)
2011
14
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis. (20420026)
2010
15
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (20045868)
2010
16
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. (19213027)
2009
17
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. (18695058)
2008
18
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. (17339586)
2007
19
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. (16983564)
2007
20
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. (17380469)
2007
21
Mitochondrial mutation in a child with distal arthrogryposis. (16353243)
2006
22
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. (17103435)
2006
23
A TNNI2 mutation in a family with distal arthrogryposis type 2B. (16497570)
2006
24
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. (16278894)
2005
25
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. (16001435)
2005
26
Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS). (15510104)
2004
27
Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis. (12599193)
2003
28
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
29
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. (11152147)
2001
30
Ocular findings in distal arthrogryposis. (11455953)
2001
31
Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? (10766984)
2000
32
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. (10777369)
2000
33
Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? (10327254)
1999
34
Prenatal diagnosis of distal arthrogryposis type 1. (10384996)
1999
35
A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome. (10617921)
1999
36
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. (9727748)
1998
37
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? (9689995)
1998
38
Familial distal arthrogryposis type I. (8766137)
1996
39
Extending the spectrum of distal arthrogryposis. (8923937)
1996
40
Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case. (8533802)
1995
41
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. (7977374)
1994
42
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. (8370149)
1993
43
Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. (1488995)
1992
44
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
45
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. (2063898)
1991
46
Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? (2764034)
1989
47
Distal arthrogryposis type II D in three generations of a Brazilian family. (3565478)
1987
48
Distal arthrogryposis type II: a family with varying congenital abnormalities. (3717209)
1986
49
An unusual distal arthrogryposis. (3993671)
1985
50
Autosomal-dominant inheritance of distal arthrogryposis. (7446562)
1980

Variations for Distal Arthrogryposis

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Clinvar genetic disease variations for Distal Arthrogryposis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADGRG6NM_198569.2(ADGRG6): c.19C> T (p.Arg7Ter)single nucleotide variantPathogenicrs749355583GRCh37Chr 6, 142630697: 142630697
2ADGRG6NM_020455.5(ADGRG6): c.2144dupG (p.Gln716Thrfs)duplicationPathogenicrs793888524GRCh37Chr 6, 142726841: 142726841
3ADGRG6NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu)single nucleotide variantPathogenicrs793888525GRCh37Chr 6, 142729324: 142729324

Expression for genes affiliated with Distal Arthrogryposis

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Search GEO for disease gene expression data for Distal Arthrogryposis.

Pathways for genes affiliated with Distal Arthrogryposis

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Pathways related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5MYH3, MYH6, MYH8
29.5MYH3, MYH6, MYH8
3
Show member pathways
9.0ACTA1, MYH3, MYH6, MYH8
4
Show member pathways
9.0ACTA1, MYH3, MYH6, MYH8
5
Show member pathways
8.4MYBPC1, MYH3, MYH6, MYH8, TNNI2, TNNT3
6
Show member pathways
8.3ACTA1, MYH3, MYH6, MYH8, TGFB3
7
Show member pathways
8.0ACTA1, FBN2, MYH3, MYH6, MYH8, TGFB3
87.9ACTA1, MYBPC1, MYH3, MYH6, MYH8, TNNI2

GO Terms for genes affiliated with Distal Arthrogryposis

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Biological processes related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle contractionGO:000300910.2MYH3, TNNT3
2cardiac muscle contractionGO:00600489.8MYH6, TNNI2
3face morphogenesisGO:00603259.8MYH3, TGFB3
4sarcomere organizationGO:00452149.5MYH3, MYH6
5ATP metabolic processGO:00460349.5MYH3, MYH6, MYH8

Molecular functions related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1motor activityGO:000377410.0MYH3, MYH8
2actin bindingGO:00037799.4MYBPC1, TNNI2, TNNT3, TPM2

Sources for Distal Arthrogryposis

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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