AYGRP
MCID: AYM001
MIFTS: 57

Ayme-Gripp Syndrome (AYGRP)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ayme-Gripp Syndrome

MalaCards integrated aliases for Ayme-Gripp Syndrome:

Name: Ayme-Gripp Syndrome 56 12 58 73 29 6 15 39
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 56 12 73 43
Aygrp 56 12 73
Fine-Lubinsky Syndrome 58 71
Aymé-Gripp Syndrome 24 17
Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome 58
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome 58
Cataract 43
Facies 43

Characteristics:

Orphanet epidemiological data:

58
ayme-gripp syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ayme-gripp syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance For this disorder, penetrance is felt to be 100%; however, there is variability in presentation as illustrated by a report from javadiyan et al [2017] and alkhunaizi et al [2019] in which an affected mother had a substantially milder phenotype than her child.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Ayme-Gripp Syndrome

Disease Ontology : 12 A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has material basis in heterozygous mutation in MAF on chromosome 16q23.2.

MalaCards based summary : Ayme-Gripp Syndrome, also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, is related to cataract 21, multiple types and cataract microcornea syndrome, and has symptoms including seizures An important gene associated with Ayme-Gripp Syndrome is MAF (MAF BZIP Transcription Factor), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Tacrolimus/Cyclosporine Pathway, Pharmacodynamics. The drugs Tropicamide and Timolol have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes, and related phenotypes are intellectual disability and global developmental delay

OMIM : 56 Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015). (601088)

UniProtKB/Swiss-Prot : 73 Ayme-Gripp syndrome: A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.

GeneReviews: NBK553534

Related Diseases for Ayme-Gripp Syndrome

Diseases related to Ayme-Gripp Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2048)
# Related Disease Score Top Affiliating Genes
1 cataract 21, multiple types 33.9 MAF CRYAA
2 cataract microcornea syndrome 33.6 MAF CRYAA
3 morgagni cataract 33.4 CRYGA CRYAA
4 posterior polar cataract 33.2 CRYGA CRYAA
5 aniridia 1 32.5 MAF CRYAA
6 anterior segment dysgenesis 31.6 MAF CRYAA
7 coloboma of macula 31.3 MAF CRYAA
8 cataract 30.1 MAF CRYGA CRYAA
9 scleral staphyloma 29.4 CRYGA CRYAA
10 fibrosarcoma 29.0 MAFK MAFG MAF
11 hyperferritinemia with or without cataract 12.7
12 cataract 4, multiple types 12.7
13 cataract 1, multiple types 12.7
14 cataract 9, multiple types 12.7
15 cataract 6, multiple types 12.7
16 cataract 3, multiple types 12.6
17 cataract 17, multiple types 12.6
18 cataract 40 12.6
19 cataract 22, multiple types 12.6
20 cataract 11, multiple types 12.6
21 cataract 2, multiple types 12.6
22 cataract 16, multiple types 12.6
23 cataract 5, multiple types 12.6
24 cataract 10, multiple types 12.6
25 cataract 23, multiple types 12.6
26 cataract 14, multiple types 12.6
27 cataract 18 12.6
28 cataract 31, multiple types 12.6
29 cataract 34, multiple types 12.6
30 cataract 8, multiple types 12.6
31 cataract 38 12.6
32 cataract 24 12.6
33 cataract 7 12.6
34 cataract 32, multiple types 12.6
35 cataract 41 12.6
36 cataract 39, multiple types 12.6
37 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy 12.5
38 cataract 47 12.5
39 cataract 44 12.5
40 congenital cataracts, facial dysmorphism, and neuropathy 12.5
41 cataract 26, multiple types 12.5
42 cataract 12, multiple types 12.5
43 cerulean cataract 12.5
44 cataract 25 12.5
45 senile cataract 12.5
46 cataract 30, multiple types 12.5
47 cataract 19, multiple types 12.5
48 cataract 15, multiple types 12.5
49 brachycephaly, deafness, cataract, microstomia, and mental retardation 12.5
50 diabetic cataract 12.5

Graphical network of the top 20 diseases related to Ayme-Gripp Syndrome:



Diseases related to Ayme-Gripp Syndrome

Symptoms & Phenotypes for Ayme-Gripp Syndrome

Human phenotypes related to Ayme-Gripp Syndrome:

58 31 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
4 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
5 depressed nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0005280
6 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
7 short nose 58 31 very rare (1%) Frequent (79-30%) HP:0003196
8 microtia 58 31 occasional (7.5%) Frequent (79-30%) HP:0008551
9 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
10 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
11 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
12 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
13 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
14 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
15 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
16 narrow mouth 58 31 very rare (1%) Frequent (79-30%) HP:0000160
17 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
18 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
19 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
20 downslanted palpebral fissures 58 31 occasional (7.5%) Frequent (79-30%) HP:0000494
21 upslanted palpebral fissure 58 31 occasional (7.5%) Frequent (79-30%) HP:0000582
22 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
23 thin upper lip vermilion 58 31 very rare (1%) Frequent (79-30%) HP:0000219
24 long philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000343
25 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
26 sparse scalp hair 58 31 occasional (7.5%) Frequent (79-30%) HP:0002209
27 high forehead 58 31 very rare (1%) Frequent (79-30%) HP:0000348
28 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
29 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
30 tapered finger 58 31 occasional (7.5%) Frequent (79-30%) HP:0001182
31 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
32 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
33 rocker bottom foot 58 31 frequent (33%) Frequent (79-30%) HP:0001838
34 posteriorly rotated ears 58 31 occasional (7.5%) Frequent (79-30%) HP:0000358
35 oligodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000677
36 camptodactyly 58 31 occasional (7.5%) Frequent (79-30%) HP:0012385
37 asymmetric crying face 58 31 frequent (33%) Frequent (79-30%) HP:0011333
38 developmental cataract 58 31 very rare (1%) Frequent (79-30%) HP:0000519
39 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
40 arnold-chiari type i malformation 58 31 occasional (7.5%) Frequent (79-30%) HP:0007099
41 shallow orbits 58 31 frequent (33%) Frequent (79-30%) HP:0000586
42 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
43 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
44 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
45 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
46 pericarditis 58 31 very rare (1%) Occasional (29-5%) HP:0001701
47 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
48 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
49 megalocornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000485
50 radioulnar synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002974

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures (in some patients)
upslanting palpebral fissures (in some patients)
congenital cataracts
more
Head And Neck Nose:
short nose
flat nasal bridge
broad nasal root

Skeletal Skull:
brachycephaly

Head And Neck Face:
long philtrum
high forehead
midface hypoplasia
malar hypoplasia
prognathism (in some patients)
more
Skin Nails Hair Hair:
sparse scalp hair (in some patients)

Skin Nails Hair Nails:
dystrophic nails (in some patients)

Head And Neck Teeth:
dental anomalies (rare)

Chest Breasts:
hypoplastic breasts

Skeletal Limbs:
joint limitations (in some patients)
bilateral congenital dislocation of radial heads (rare)
radioulnar synostosis (rare)

Neurologic Central Nervous System:
seizures
chiari i malformation (rare)
mental retardation, mild to severe
cerebral atrophy (rare)
enlarged ventricles or hydrocephaly

Head And Neck Head:
brachycephaly
widened anterior fontanel
delayed closure of fontanel (in some patients)

Head And Neck Ears:
low-set ears
hearing loss, sensorineural
posteriorly rotated ears (in some patients)
small ears (in some patients)

Head And Neck Mouth:
thin upper lip
small mouth

Skeletal Hands:
brachydactyly (in some patients)
fifth-finger clinodactyly (in some patients)
camptodactyly (rare)
tapered fingers (rare)

Growth Height:
reduced height

Cardiovascular Heart:
pericarditis (rare)

Skeletal Pelvis:
chondrolysis of hip (rare)

Clinical features from OMIM:

601088

UMLS symptoms related to Ayme-Gripp Syndrome:


seizures

Drugs & Therapeutics for Ayme-Gripp Syndrome

Drugs for Ayme-Gripp Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 449)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
2
Timolol Approved Phase 4 26839-75-8 5478 33624
3
Travoprost Approved Phase 4 157283-68-6 5282226
4
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
5
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
6
Alogliptin Approved Phase 4 850649-61-5 11450633
7
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
8
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
9
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
10
Bromfenac Approved Phase 4 91714-94-2 60726
11
Besifloxacin Approved Phase 4 141388-76-3
12
Gatifloxacin Approved, Investigational Phase 4 112811-59-3 5379
13
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
14
Dinoprostone Approved Phase 4 363-24-6 5280360
15
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
16
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
17
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
18
Polyestradiol phosphate Approved Phase 4 28014-46-2
19
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
20
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
21
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
22
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
23
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
24
Enoxaparin Approved Phase 4 9005-49-6 772
25
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
26
Dalteparin Approved Phase 4 9005-49-6
27
Povidone Approved Phase 4 9003-39-8
28 Orange Approved Phase 4
29
Ethanol Approved Phase 4 64-17-5 702
30
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
31
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
32
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
33
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
34
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
35
Azithromycin Approved Phase 4 83905-01-5 447043 55185
36
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
37
Difluprednate Approved Phase 4 23674-86-4 443936
38
Homatropine Approved Phase 4 87-00-3
39
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
40
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
41
Budesonide Approved Phase 4 51333-22-3 63006 5281004
42
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
43
Triazolam Approved, Investigational Phase 4 28911-01-5 5556
44
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
45
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
46
Cefazolin Approved Phase 4 25953-19-9 656510 33255
47
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
48
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
49
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
50
Lifitegrast Approved Phase 4 1025967-78-5

Interventional clinical trials:

(show top 50) (show all 1644)
# Name Status NCT ID Phase Drugs
1 A Study to Assess the Clinical Outcomes of Surgical Phaco Segmentation Techniques in Patients Undergoing Cataract Surgery Unknown status NCT02843594 Phase 4
2 Clinical Investigation of the Modified Rayner Monofocal Aspheric 600C (With Axis Marks) Intraocular Lens Unknown status NCT02378636 Phase 4
3 Efficacy of Subtenon Anesthesia With Olive Tipped Cannula: a Randomized Controlled Trial Unknown status NCT01019018 Phase 4
4 AMO's Tecnis™ Multifocal Intraocular Lenses (Tecnis MF), Alcon's ReStor Multifocal IOL Unknown status NCT01278420 Phase 4
5 Relevance of Eye Dominance in the Selection of Patients Suitable for Treatment With Monovision After Cataract Surgery Unknown status NCT01382641 Phase 4
6 Randomized, Masked Comparison of Bromfenac and Besifloxacin BID With Either Prednisolone BID or Loteprednol 0.5% BID for Prevention of Retinal Thickening and CME Following Phacoemulsification Unknown status NCT01193504 Phase 4 Pred Forte;Lotemax
7 The Effect of Pretreated Gabapentin on Hyeralgesia Occurring in the Second Operation in Staged Bilateral Cataract Surgery Unknown status NCT02127853 Phase 4 gabapentin;placebo
8 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
9 Quantitative Comparison of the Efficacy of Subtenon 20-mg Triamcinolone Injection With 0.1% Dexamethasone Eye Drop in Controlling Intraocular Inflammation After Phacoemulsification Unknown status NCT01801774 Phase 4 Subtenon 20-mg triamcinolone injection;Placebo
10 Effect of Anti-inflammatory Topical Prednisolone Acetate 1%, Nepafenac of 0.1% and Ketorolac Tromethamine 0.4% in Intra-operative Mydriasis in Facetectomies Unknown status NCT00865540 Phase 4 prednisolone acetate 1%;ketorolac tromethamine 0.4%;nepafenac 0.1%;methylcellulose 0.5%
11 Combined Phacoemulsification and Glaucoma Implant Surgery Versus Combined Phacoemulsification and Trabeculectomy: A Randomized Controlled Trial Unknown status NCT00273221 Phase 4
12 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
13 Effect of Prophylactic Aqueous Suppression on Hyperencapsulation of Ahmed Glaucoma Valves Unknown status NCT01535768 Phase 4 Aqueous Suppressant Eye Drops
14 Heavy Bupivacaine Versus Plain Bupivacaine in Peribulbar Block Unknown status NCT03312959 Phase 4 hyperbaric bupvacaine in Peribulbar block;isobaric bupvacaine in Peribulbar block
15 Comparative Study of the Safety and Effectiveness Between Off-Label Subconjunctival Bevacizumab and Mitomycin C in Glaucoma Filtering Surgery. Unknown status NCT00468429 Phase 4 Subconjunctival Bevacizumab
16 Topical Application of ACULAR a Randomized, Vehicle Controlled Clinical Trial: Efficiency in Inhibiting Proliferative Retinopathy of Prematurity Unknown status NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
17 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medications (One a Prostaglandin) Treated With Two Trabecular Micro-bypass Stents (iStent Inject) and a Postoperative Topical Prostaglandin Unknown status NCT02873806 Phase 4 Topical travoprost;Tobramycin;Dexamethasone
18 Cefazolin-Lidocaine Solution for Reducing Pain Associated With Subconjunctival Antibiotic Prophylaxis in Vitreo-Retinal Surgery Unknown status NCT02324166 Phase 4 Cefazolin;Lidocaine
19 Pilot Study of Prevention Myopia in Children With Low Concentration of Atropine Unknown status NCT00541177 Phase 4 atropine;tropicamide
20 EFFECTS OF IMMEDIATE ARGON LASER PERIPHERAL IRIDOPLASTY Versus CONVENTIONAL SYSTEMIC MEDICAL THERAPY ON OPTIC NERVE HEAD STRUCTURE AND FUNCTION OF ACUTE PRIMARY ANGLE CLOSURE EYES Unknown status NCT00485238 Phase 4 Intravenous acetazolamide
21 A Phase IV, Multicenter, Randomized, Active Comparator Controlled Study of the Addition of Pioglitazone Compared With Glimepiride in Subjects With Type 2 Diabetes Mellitus Who Have Inadequate Glycemic Control on Metformin and Alogliptin Unknown status NCT02426294 Phase 4 Pioglitazone;Glimepiride
22 Indomethacin Eyedrops Compared With Ketorolac Eyedrops for Ocular Inflammation Following Cataract Surgery Completed NCT00904904 Phase 4 Indomethacin ophthalmic solution;Ketorolac Ophthalmic Solution
23 Monocular Study to Evaluate the Safety and Effectiveness of the Akreos™ Toric IOL When Used to Correct Primary Aphakia With the Reduction of Astigmatism Completed NCT00825513 Phase 4
24 Parallel-group Study of Ocular Penetration of Peri-operative Topically Administered Fluoroquinolones With Cataract Surgery Completed NCT00924729 Phase 4 Moxifloxacin 0.5% ophthalmic solution;Besifloxacin 0.6% ophthalmic suspension
25 Pharmacokinetic Evaluation of Moxifloxacin in Vigadexa® in Aqueous Humor Samples Following Preoperative Antibiotic/Steroid Dosing in Cataract Surgery Patients Completed NCT01859702 Phase 4 Moxifloxacin 0.5%/Dexamethasone 0.1% ophthalmic solution
26 Therapeutic Variables in Cataract Surgery Completed NCT00407017 Phase 4 Gatifloxacin;Ketorolac LS;Pred Forte;Moxifloxacin;Nepafenac;EconoPred Plus
27 Acular LS vs. Nevanac in Post op Inflammation Following Cataract Surgery Completed NCT00348582 Phase 4 Ketorolac, Nepafenac
28 A Masked Comparison of Acular LS Plus Steroid Versus Steroid Alone for the Prevention of Macular Leakage in Cataract Patients Completed NCT00348244 Phase 4 Ketorolac, Prednisolone Acetate
29 DisCoVisc Versus Competitor Completed NCT00712244 Phase 4
30 Use of Toric Intraocular Lens to Neutralize Keratometric Astigmatism Completed NCT00925886 Phase 4
31 Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1 Completed NCT00710931 Phase 4
32 ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) Completed NCT00684138 Phase 4
33 To Compare the Ability of DiscoVisc® Ophthalmic Viscosurgical Device (OVD) to Protect the Corneal Endothelium and Maintain Anterior Chamber Space With Healon® and Amvisc® PLUS During Cataract Surgery. Completed NCT00763360 Phase 4 Healon;Amvisc Plus
34 Clinical Evaluation of a New Aspheric Intraocular Lens. A Prospective, Multi-Center, Comparative Study. Completed NCT00786565 Phase 4
35 A Prospective, Multi-Center Clinical Investigation to Evaluate the Safety & Effectiveness of the Bausch & Lomb AKREOS® TL (Model MI60) Intraocular Lens Completed NCT00838045 Phase 4
36 Visual Function After Implantation of Bilateral AcrySof ReSTOR Aspheric Intraocular Lens (IOL): Postmarket Evaluation Completed NCT00818116 Phase 4
37 A Study of the Glaukos Trabecular Micro-Bypass Stent in Combination With Cataract Surgery in Open Angle Glaucoma Subjects. Completed NCT00326014 Phase 4
38 Evaluation Of Bilateral Tecnis Multifocal Versus ReSTOR 3D Intraocular Lenses Completed NCT01061918 Phase 4
39 Clear Corneal Incisions and Arcuate Incisions Utilizing FemtoSecond Laser Technology for Cataract Surgery Completed NCT01383057 Phase 4
40 Laser Cataract Surgery With the Femtosecond Laser Technology Completed NCT01382823 Phase 4
41 Efficacy of Topical Cyclosporine Versus Tears for Improving Visual Outcomes Following Multifocal IOL Implantation Completed NCT00349583 Phase 4 Topical Cyclosporine, Tears
42 Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients Completed NCT00347503 Phase 4 ketorolac 0.4%, bromfenac 0.09%
43 Spherical Aberration and Contrast Sensitivity Function in Eyes Implanted With Spherical and Aspheric Intraocular Lenses: A Clinical Trial Completed NCT01028872 Phase 4
44 Ocular Tissue Levels of 1.5% Levofloxacin Ophthalmic Solution Compared to an Active Comparator Completed NCT00630019 Phase 4 1.5% levofloxacin ophthalmic solution;0.5% moxifloxacin hydrochloride ophthalmic solution
45 An Evaluation of the Prophylactic Efficacy and Safety of the Administration of the Combination Formulation of Moxifloxacin 0.5% and Dexamethasone 0.1% Eye Drops in Inflammation and Infection Post-cataract Surgery Completed NCT00870103 Phase 4 Vigadexa (moxifloxacin 0.5% and dexamethasone 0.1%) eye drops
46 Visual Function After Implantation of Bilateral AcrySof® Toric Natural Intraocular Lens Completed NCT00760487 Phase 4
47 A Randomized, Subject-masked Comparison of Visual Function After Bilateral Implantation of Presbyopia-correcting IOLs Completed NCT00963560 Phase 4
48 Multi-center, Randomized, Double Masked, Vehicle Controlled Phase IV Study to Compare the Efficacy, Ocular Safety and Tolerability of a Two Day Treatment With Eye Drops (0.5% Prednisolone Acetate, One Drop Four Times Per Day) in Patients With Intraocular Inflammation After Cataract Surgery, Followed by an Open Label Observational Period of 12 Days Completed NCT00170729 Phase 4 Prednisolone acetate
49 Intraoperative Floppy Iris Syndrome Completed NCT00711347 Phase 4
50 Size Progression of Non-Exudative Age-Related Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4

Search NIH Clinical Center for Ayme-Gripp Syndrome

Cochrane evidence based reviews: cataract

Genetic Tests for Ayme-Gripp Syndrome

Genetic tests related to Ayme-Gripp Syndrome:

# Genetic test Affiliating Genes
1 Ayme-Gripp Syndrome 29 MAF

Anatomical Context for Ayme-Gripp Syndrome

MalaCards organs/tissues related to Ayme-Gripp Syndrome:

40
Eye, Endothelial, Testes, Skin, Bone, Retina, Breast

Publications for Ayme-Gripp Syndrome

Articles related to Ayme-Gripp Syndrome:

(show all 15)
# Title Authors PMID Year
1
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. 56 6 24
25865493 2015
2
Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. 6 24 56
8834052 1996
3
Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases. 6 56
17935251 2007
4
A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. 56 6
12072800 2002
5
Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. 6 56
8867660 1996
6
Aymé-Gripp Syndrome 6
32027476 2020
7
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. 61 24
29314435 2018
8
Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations. 56
6432966 1983
9
Skeletal abnormalities are common features in Aymé-Gripp syndrome. 24
31600839 2020
10
Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome. 24
31390148 2019
11
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool. 24
30160832 2018
12
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome). 24
28482824 2017
13
Timing, rates and spectra of human germline mutation. 24
26656846 2016
14
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 24
11772997 2002
15
Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. 24
9188678 1997

Variations for Ayme-Gripp Syndrome

ClinVar genetic disease variations for Ayme-Gripp Syndrome:

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAF NM_005360.5(MAF):c.881G>A (p.Arg294Gln)SNV Pathogenic 664291 16:79632919-79632919 16:79599022-79599022
2 covers 13 genes, none of which curated to show dosage sensitivity NC_000016.10:g.(?_78278583)_(80589366_?)deldeletion Pathogenic 655227 16:78312480-80623263 16:78278583-80589366
3 MAF NC_000016.10:g.(?_79594440)_(79599922_?)deldeletion Pathogenic 830955 16:79628337-79633819
4 MAF NM_005360.5(MAF):c.185C>G (p.Thr62Arg)SNV Pathogenic 162517 rs727502771 16:79633615-79633615 16:79599718-79599718
5 MAF NM_005360.5(MAF):c.176C>T (p.Pro59Leu)SNV Pathogenic 162516 rs727502770 16:79633624-79633624 16:79599727-79599727
6 MAF NM_005360.5(MAF):c.176C>A (p.Pro59His)SNV Pathogenic 162515 rs727502770 16:79633624-79633624 16:79599727-79599727
7 MAF NM_005360.5(MAF):c.173C>T (p.Thr58Ile)SNV Pathogenic 162514 rs727502769 16:79633627-79633627 16:79599730-79599730
8 MAF NM_005360.5(MAF):c.172A>G (p.Thr58Ala)SNV Pathogenic 162513 rs727502767 16:79633628-79633628 16:79599731-79599731
9 MAF NM_005360.5(MAF):c.161C>T (p.Ser54Leu)SNV Pathogenic 162512 rs727502766 16:79633639-79633639 16:79599742-79599742
10 MAF NM_005360.5(MAF):c.206C>G (p.Pro69Arg)SNV Likely pathogenic 162518 rs727502768 16:79633594-79633594 16:79599697-79599697
11 MAF NM_005360.5(MAF):c.905C>T (p.Ala302Val)SNV Likely pathogenic 474940 rs1481963503 16:79632895-79632895 16:79598998-79598998
12 MAF NM_005360.5(MAF):c.768C>G (p.His256Gln)SNV Uncertain significance 474939 rs1555529827 16:79633032-79633032 16:79599135-79599135
13 MAF NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del)deletion Uncertain significance 474937 rs1229626204 16:79633090-79633104 16:79599193-79599207
14 MAF NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)indel Uncertain significance 541764 rs1555530022 16:79633488-79633505 16:79599591-79599608
15 MAF NM_005360.5(MAF):c.293C>A (p.Pro98Gln)SNV Uncertain significance 541763 rs878873480 16:79633507-79633507 16:79599610-79599610
16 MAF NM_005360.5(MAF):c.1110G>C (p.Glu370Asp)SNV Uncertain significance 864654 16:79632690-79632690 16:79598793-79598793
17 MAF NM_005360.5(MAF):c.702A>C (p.Gly234=)SNV Likely benign 259753 rs779108045 16:79633098-79633098 16:79599201-79599201
18 MAF NM_005360.5(MAF):c.678_680CGG[10] (p.Gly237_Gly238dup)short repeat Likely benign 576664 rs887468453 16:79633098-79633099 16:79599201-79599202
19 MAF NM_005360.5(MAF):c.453C>A (p.Gly151=)SNV Likely benign 707042 16:79633347-79633347 16:79599450-79599450
20 MAF NM_005360.5(MAF):c.942C>T (p.His314=)SNV Likely benign 541765 rs765806184 16:79632858-79632858 16:79598961-79598961
21 MAF NM_005360.5(MAF):c.715G>A (p.Ala239Thr)SNV Benign 474938 rs561314990 16:79633085-79633085 16:79599188-79599188
22 MAF NM_005360.5(MAF):c.611G>T (p.Gly204Val)SNV Benign 474936 rs867401075 16:79633189-79633189 16:79599292-79599292

UniProtKB/Swiss-Prot genetic disease variations for Ayme-Gripp Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 MAF p.Ser54Leu VAR_073891 rs727502766
2 MAF p.Thr58Ala VAR_073892 rs727502767
3 MAF p.Thr58Ile VAR_073893 rs727502769
4 MAF p.Pro59His VAR_073894 rs727502770
5 MAF p.Pro59Leu VAR_073895 rs727502770
6 MAF p.Thr62Arg VAR_073896 rs727502771
7 MAF p.Pro69Arg VAR_073897 rs727502768

Expression for Ayme-Gripp Syndrome

Search GEO for disease gene expression data for Ayme-Gripp Syndrome.

Pathways for Ayme-Gripp Syndrome

Pathways related to Ayme-Gripp Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.15 MAFK MAFG
2 10.44 MAFK MAFG MAF

GO Terms for Ayme-Gripp Syndrome

Cellular components related to Ayme-Gripp Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 host cell nucleus GO:0042025 8.8 MAFK MAFG MAF

Biological processes related to Ayme-Gripp Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 8.96 MAFK MAFG
2 lens development in camera-type eye GO:0002088 8.62 MAF CRYGA

Molecular functions related to Ayme-Gripp Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 MAFK MAFG MAF
2 sequence-specific DNA binding GO:0043565 9.33 MAFK MAFG MAF
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.13 MAFK MAFG MAF
4 structural constituent of eye lens GO:0005212 8.62 CRYGA CRYAA

Sources for Ayme-Gripp Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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