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 57 12 58 72 29 6 15 39
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 57 12 72 44
Aygrp 57 12 72
Fine-Lubinsky Syndrome 58 70
Aymé-Gripp Syndrome 25 17
Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome 58
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome 58
Cataract 44
Facies 44

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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
ayme-gripp syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 11, multiple types, 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 Hyaluronic acid and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and skin, and related phenotypes are intellectual disability and global developmental delay

OMIM® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 1844)
# Related Disease Score Top Affiliating Genes
1 cataract 21, multiple types 32.4 MAF CRYAA
2 cataract 11, multiple types 32.3 PITX3 CRYAA
3 cataract 16, multiple types 32.2 PITX3 CRYAA
4 cataract microcornea syndrome 32.2 MAF CRYAA
5 morgagni cataract 31.7 CRYGA CRYAA
6 aniridia 1 31.6 PITX3 MAF CRYAA
7 amblyopia 31.5 PITX3 CRYAA
8 posterior polar cataract 31.3 PITX3 CRYGA CRYAA
9 coloboma of macula 31.0 PITX3 MAF CRYAA
10 early-onset non-syndromic cataract 31.0 PITX3 MAF
11 aniseikonia 30.2 PITX3 MAF
12 lens disease 29.9 PITX3 CRYAA
13 anterior segment dysgenesis 29.8 PITX3 MAF CRYAA
14 juvenile glaucoma 29.4 PITX3 CRYAA
15 cataract 29.4 PITX3 MAF CRYGA CRYAA
16 fibrosarcoma 29.4 MAFK MAFG MAF
17 axenfeld-rieger syndrome 29.3 PITX3 CRYAA
18 scleral staphyloma 29.3 CRYGA CRYAA
19 disuse amblyopia 29.3 PITX3 CRYAA
20 porencephaly 29.2 CRYGA CRYAA
21 brachycephaly, deafness, cataract, microstomia, and mental retardation 11.7
22 cataract 4, multiple types 11.6
23 cataract 1, multiple types 11.6
24 hyperferritinemia with or without cataract 11.6
25 cataract 6, multiple types 11.6
26 cataract 9, multiple types 11.6
27 cataract 3, multiple types 11.6
28 optic atrophy 3, autosomal dominant 11.6
29 leukodystrophy, hypomyelinating, 5 11.6
30 cataract 2, multiple types 11.6
31 cataract 40 11.5
32 cataract 47 11.5
33 cataract 22, multiple types 11.5
34 cataract 18 11.5
35 cataract 17, multiple types 11.5
36 cataract 14, multiple types 11.5
37 cataract 10, multiple types 11.5
38 cataract 31, multiple types 11.5
39 cataract 5, multiple types 11.5
40 cataract 23, multiple types 11.5
41 cataract 34, multiple types 11.5
42 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy 11.5
43 cataract 38 11.5
44 cataract 32, multiple types 11.5
45 cataract 7 11.5
46 vitreoretinochoroidopathy 11.5
47 cataract 41 11.4
48 mental retardation-hypotonic facies syndrome, x-linked, 1 11.4
49 cataract 8, multiple types 11.4
50 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 11.4

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 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
6 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
7 depressed nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0005280
8 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
9 short nose 58 31 very rare (1%) Frequent (79-30%) HP:0003196
10 microtia 58 31 occasional (7.5%) Frequent (79-30%) HP:0008551
11 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
12 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
13 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
14 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
15 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
16 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
17 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
18 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
19 downslanted palpebral fissures 58 31 occasional (7.5%) Frequent (79-30%) HP:0000494
20 narrow mouth 58 31 very rare (1%) Frequent (79-30%) HP:0000160
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 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
44 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
45 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
46 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
47 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
48 megalocornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000485
49 radioulnar synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002974
50 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
chiari i malformation (rare)
mental retardation, mild to severe
cerebral atrophy (rare)
enlarged ventricles or hydrocephaly

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)

Head And Neck Eyes:
ptosis
hypertelorism
downslanting palpebral fissures (in some patients)
upslanting palpebral fissures (in some patients)
congenital cataracts
more
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 (Updated 05-Apr-2021)

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 367)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
8
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
9
Travoprost Approved Phase 4 157283-68-6 5282226
10
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
11
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
12
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 9865442 444025
13
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
14
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
15
Bromfenac Approved Phase 4 91714-94-2 60726
16
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
17
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
18
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
19
Gatifloxacin Approved, Investigational Phase 4 112811-59-3 5379
20
Besifloxacin Approved Phase 4 141388-76-3
21
Dinoprostone Approved Phase 4 363-24-6 5280360
22
Vancomycin Approved Phase 4 1404-90-6 14969 441141
23 Orange Approved Phase 4
24
Ofloxacin Approved Phase 4 82419-36-1 4583
25
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
26
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
27
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
28
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
29
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
30
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
31
Dalteparin Approved Phase 4 9005-49-6
32
Enoxaparin Approved Phase 4 9005-49-6 772
33
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
34
Azithromycin Approved Phase 4 83905-01-5 447043 55185
35
Homatropine Approved Phase 4 87-00-3
36
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
37
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
38
Bevacizumab Approved, Investigational Phase 4 216974-75-3
39
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
40
Cefazolin Approved Phase 4 25953-19-9 33255 656510
41
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
42
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
43
Erenumab Approved, Investigational Phase 4 1582205-90-0
44
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
45
Ranibizumab Approved Phase 4 347396-82-1 459903
46
Lifitegrast Approved Phase 4 1025967-78-5
47
Catechin Approved, Withdrawn Phase 4 154-23-4 9064
48
tannic acid Approved Phase 4 1401-55-4
49
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
50
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743

Interventional clinical trials:

(show top 50) (show all 1369)
# Name Status NCT ID Phase Drugs
1 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%
2 A Prospective Evaluation of Mild to Moderate Open-Angle Glaucoma Subjects With Cataract Treated With Cataract Surgery Plus One Trabecular Micro-bypass Stent and One Suprachoroidal Stent Unknown status NCT03255785 Phase 4
3 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
4 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
5 Topical 0,09% Bromfenac for Intraoperative Miosis and Pain Reduction in Femtosecond Laser-assisted Cataract Surgery Unknown status NCT03831984 Phase 4 0,09% Bromfenac;0,1% sodium hyaluronate
6 A Study to Assess the Clinical Outcomes of Surgical Phaco Segmentation Techniques in Patients Undergoing Cataract Surgery Unknown status NCT02843594 Phase 4
7 Relevance of Eye Dominance in the Selection of Patients Suitable for Treatment With Monovision After Cataract Surgery Unknown status NCT01382641 Phase 4
8 The Effect of Pretreated Gabapentin on Hyeralgesia Occurring in the Second Operation in Staged Bilateral Cataract Surgery Unknown status NCT02127853 Phase 4 gabapentin;placebo
9 Clinical Investigation of the Modified Rayner Monofocal Aspheric 600C (With Axis Marks) Intraocular Lens Unknown status NCT02378636 Phase 4
10 Combined Subconjunctival Atropine and Intracameral Epinephrine Injection for Pupil Dilation in Phacoemulsification Under Peribulbar Anesthesia. Unknown status NCT03638726 Phase 4 Atropine sulfate and epinephrine;Topical cyclopentolate and phenylephrine
11 A Randomised Intra-patient Comparison of Closed Loop and Plate Haptic Toric, Aspheric, Aberration Neutral, Hydrophilic Acrylic Intraocular Lenses in Patients With Bilateral Astigmatism Unknown status NCT02264457 Phase 4
12 Visual Performance Following Implantation of a Hydrophobic Aspheric Monofocal Intraocular Lens Unknown status NCT03819582 Phase 4
13 AMO's Tecnis™ Multifocal Intraocular Lenses (Tecnis MF), Alcon's ReStor Multifocal IOL Unknown status NCT01278420 Phase 4
14 Efficacy of Subtenon Anesthesia With Olive Tipped Cannula: a Randomized Controlled Trial Unknown status NCT01019018 Phase 4
15 Combined Phacoemulsification and Glaucoma Implant Surgery Versus Combined Phacoemulsification and Trabeculectomy: A Randomized Controlled Trial Unknown status NCT00273221 Phase 4
16 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
17 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
18 Intraidivisual Comparison of Functional Vision Provided by AMO Tecnis Z9000 and ALcon SA60AT Acrysof Posterior Chamber Intraocular Lenses Completed NCT00459303 Phase 4
19 Comparison of Acular LS With Lotemax to Prevent Anterior Segment Inflammation After Phacoemulsification and Intraocular Lens Implantation Completed NCT00366691 Phase 4 Acular LS;Lotemax
20 Effect of Nepafenac on Post-operative Cystoid Macular Edema Following Uncomplicated Cataract Surgery Completed NCT00494494 Phase 4 Standard Care;nepafenac
21 Clinical Outcomes After Bilateral Implantation of ZEISS AT LISA TRI AND TRI TORIC IOL Completed NCT02770924 Phase 4
22 Protein Profile of Immunoregulatory Factors in Diabetic Cataract Completed NCT01832311 Phase 4 Ketorolac
23 ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) Completed NCT00684138 Phase 4
24 Dexmedetomidine vs. Propofol for Monitored Anesthesia Care During Cataract Completed NCT00786370 Phase 4 dexmedetomidine;Propofol;Dexemedetomidine
25 Mini-flared Kelman Tip and Reverse Tip With Torsional Phaco: Prospective Randomized Comparative Study Completed NCT02089698 Phase 4
26 Peritonsillar Infiltration With Levobupivacaine for Relief of Posttonsillectomy Pain: Does Concentration Have Any Effect? Completed NCT02322346 Phase 4 Group LL;Group HL
27 DisCoVisc Versus Competitor Completed NCT00712244 Phase 4
28 Indomethacin Eyedrops Compared With Ketorolac Eyedrops for Ocular Inflammation Following Cataract Surgery Completed NCT00904904 Phase 4 Indomethacin ophthalmic solution;Ketorolac Ophthalmic Solution
29 A Multi-centre, Multi-surgeon, Randomized, Controlled, Prospective, Post-Market-Clinical-Follow-Up Study to Investigate the Impact of Cataract Grade on the Efficacy and Safety of Femtosecond-laser Assisted Lens Fragmentation Procedure Completed NCT01971177 Phase 4
30 A Randomized, Subject-masked Comparison of Visual Function After Bilateral Implantation of Presbyopia-correcting IOLs Completed NCT00963560 Phase 4
31 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
32 Comparison of Toric IOL Implantation and Opposite Clear Corneal Incision During Cataract Surgery to Correct Corneal Astigmatism Completed NCT01763151 Phase 4
33 A Randomized, Subject-masked Comparison of Visual Function After Bilateral Implantation of Presbyopia-correcting IOLs Completed NCT01166971 Phase 4
34 Size Progression of Non-Exudative Age-Related Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
35 Phase IV Study: A Prospective Two-Site Study to Evaluate the Safety and Tolerance of Besivance Versus Vigamox Prophylactically Pre and Post Operatively in Subjects Undergoing Routine Cataract Surgery Completed NCT01455233 Phase 4 besivance;vigamox
36 Influence of Light-filters in IOLs on Color Perception and Contrast Acuity. A Randomized, Double-masked Study With Intraindividual Comparison. Completed NCT00612729 Phase 4
37 Clinical Outcomes of Bromday (Bromfenac Ophthalmic Solution) 0.09% QD vs. Nevanac (Nepafenac Ophthalmic Suspension) 0.1% TID for Treatment of Ocular Inflammation Associated With Cataract Surgery Completed NCT01310127 Phase 4 Bromfenac;Nepafenac
38 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
39 Randomized Comparison of the Abbott WHITESTAR Signature System With Ellips Tranversal Ultrasound vs. the Alcon Infiniti With the Ozil Torsional Handpiece in Phacoemulsification: A Contralaterally-Controlled Trial Completed NCT01279031 Phase 4
40 Post Market Multicentric Evaluation of the AqueSys XEN Implant in Moderate Primary Open Angle Glaucoma Subjects Completed NCT02006693 Phase 4
41 Effectiveness of Liposomial Ozonized-Oil on Ocular Microbial Flora Before Cataract Surgery Completed NCT04087733 Phase 4 OZODROP
42 Clinical Evaluation of a New Aspheric Intraocular Lens. A Prospective, Multi-Center, Comparative Study. Completed NCT00786565 Phase 4
43 A Study of Sodium Carboxymethylcellulose for Post Cataract Surgery Dry Eye Symptoms Completed NCT02028754 Phase 4 Sodium Carboxymethylcellulose;Levofloxacin;Prednisolone
44 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
45 Visual Function After Bilateral Implantation of AcrySof® Toric Completed NCT00758550 Phase 4
46 Intraoperative Floppy Iris Syndrome Completed NCT00711347 Phase 4
47 Bromfenac 0.09% Versus Dexamethasone 0.1% Ophthalmic Solutions to Reduce Inflammation After Cataract Surgery Completed NCT03317847 Phase 4 Bromfenac 0.09 % Ophthalmic Solution;Dexamethasone 0.1% ophthalmic suspension
48 A Prospective, Post-Market-Clinical-Follow-Up Study to Investigate the Long-term (3 Months) Safety of Femtosecond-laser Assisted Cataract Surgery Completed NCT02023437 Phase 4
49 A Single Centre Study to Analyze Cataract Surgery Following Femtosecond Laser-Assisted and Manual Cataract Surgery Completed NCT01769313 Phase 4
50 Co-Axial Micro-incision Cataract Surgery(C-MICS) Versus Standard Co-Axial Small Incision Cataract Surgery Using the Stellaris Enhancement System Completed NCT01261975 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, Skin, Bone, Breast, Bone Marrow, Retina

Publications for Ayme-Gripp Syndrome

Articles related to Ayme-Gripp Syndrome:

(show all 18)
# Title Authors PMID Year
1
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. 6 57 25
25865493 2015
2
Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. 57 6 25
8834052 1996
3
Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases. 6 57
17935251 2007
4
A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. 6 57
12072800 2002
5
Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. 57 6
8867660 1996
6
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. 61 25
29314435 2018
7
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 6
26694549 2016
8
Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene. 6
24968223 2014
9
A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. 6
12620964 2003
10
Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations. 57
6432966 1983
11
Skeletal abnormalities are common features in Aymé-Gripp syndrome. 25
31600839 2020
12
Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome. 25
31390148 2019
13
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool. 25
30160832 2018
14
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome). 25
28482824 2017
15
Timing, rates and spectra of human germline mutation. 25
26656846 2016
16
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 25
11772997 2002
17
Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. 25
9188678 1997
18
Ayme gripp syndrome in an Indian patient. 61
33528093 2021

Variations for Ayme-Gripp Syndrome

ClinVar genetic disease variations for Ayme-Gripp Syndrome:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAF NM_005360.5(MAF):c.161C>T (p.Ser54Leu) SNV Pathogenic 162512 rs727502766 GRCh37: 16:79633639-79633639
GRCh38: 16:79599742-79599742
2 MAF NM_005360.5(MAF):c.172A>G (p.Thr58Ala) SNV Pathogenic 162513 rs727502767 GRCh37: 16:79633628-79633628
GRCh38: 16:79599731-79599731
3 MAF NM_005360.5(MAF):c.176C>A (p.Pro59His) SNV Pathogenic 162515 rs727502770 GRCh37: 16:79633624-79633624
GRCh38: 16:79599727-79599727
4 MAF NM_005360.5(MAF):c.176C>T (p.Pro59Leu) SNV Pathogenic 162516 rs727502770 GRCh37: 16:79633624-79633624
GRCh38: 16:79599727-79599727
5 MAF NM_005360.5(MAF):c.185C>G (p.Thr62Arg) SNV Pathogenic 162517 rs727502771 GRCh37: 16:79633615-79633615
GRCh38: 16:79599718-79599718
6 overlap with 14 genes NC_000016.10:g.(?_78278583)_(80589366_?)del Deletion Pathogenic 655227 GRCh37: 16:78312480-80623263
GRCh38: 16:78278583-80589366
7 MAF NM_005360.5(MAF):c.881G>A (p.Arg294Gln) SNV Pathogenic 664291 rs1597847611 GRCh37: 16:79632919-79632919
GRCh38: 16:79599022-79599022
8 MAF NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) Indel Pathogenic 541764 rs1555530022 GRCh37: 16:79633488-79633505
GRCh38: 16:79599591-79599608
9 MAF NC_000016.10:g.(?_79594440)_(79599922_?)del Deletion Pathogenic 830955 GRCh37: 16:79628337-79633819
GRCh38:
10 MAF NM_005360.5(MAF):c.173C>T (p.Thr58Ile) SNV Pathogenic 162514 rs727502769 GRCh37: 16:79633627-79633627
GRCh38: 16:79599730-79599730
11 MAF NM_005360.5(MAF):c.206C>G (p.Pro69Arg) SNV Pathogenic 162518 rs727502768 GRCh37: 16:79633594-79633594
GRCh38: 16:79599697-79599697
12 MAF NM_005360.5(MAF):c.905C>T (p.Ala302Val) SNV Likely pathogenic 474940 rs1481963503 GRCh37: 16:79632895-79632895
GRCh38: 16:79598998-79598998
13 MAF NM_005360.5(MAF):c.768C>G (p.His256Gln) SNV Uncertain significance 474939 rs1555529827 GRCh37: 16:79633032-79633032
GRCh38: 16:79599135-79599135
14 MAF NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del) Deletion Uncertain significance 474937 rs1229626204 GRCh37: 16:79633090-79633104
GRCh38: 16:79599193-79599207
15 MAF NM_005360.5(MAF):c.914G>A (p.Cys305Tyr) SNV Uncertain significance 961910 GRCh37: 16:79632886-79632886
GRCh38: 16:79598989-79598989
16 MAF NM_005360.5(MAF):c.1110G>C (p.Glu370Asp) SNV Uncertain significance 864654 GRCh37: 16:79632690-79632690
GRCh38: 16:79598793-79598793
17 MAF NM_005360.5(MAF):c.905C>A (p.Ala302Asp) SNV Uncertain significance 957132 GRCh37: 16:79632895-79632895
GRCh38: 16:79598998-79598998
18 MAF NM_005360.5(MAF):c.916C>G (p.Arg306Gly) SNV Uncertain significance 952303 GRCh37: 16:79632884-79632884
GRCh38: 16:79598987-79598987
19 MAF NM_005360.5(MAF):c.60A>T (p.Glu20Asp) SNV Uncertain significance 1028885 GRCh37: 16:79633740-79633740
GRCh38: 16:79599843-79599843
20 MAF NM_005360.5(MAF):c.293C>A (p.Pro98Gln) SNV Uncertain significance 541763 rs878873480 GRCh37: 16:79633507-79633507
GRCh38: 16:79599610-79599610
21 MAF NM_005360.5(MAF):c.942C>T (p.His314=) SNV Likely benign 541765 rs765806184 GRCh37: 16:79632858-79632858
GRCh38: 16:79598961-79598961
22 MAF NM_005360.5(MAF):c.678_680CGG[10] (p.Gly237_Gly238dup) Microsatellite Likely benign 576664 rs887468453 GRCh37: 16:79633098-79633099
GRCh38: 16:79599201-79599202
23 MAF NM_005360.5(MAF):c.453C>A (p.Gly151=) SNV Likely benign 707042 rs529173060 GRCh37: 16:79633347-79633347
GRCh38: 16:79599450-79599450
24 MAF NM_005360.5(MAF):c.702A>C (p.Gly234=) SNV Likely benign 259753 rs779108045 GRCh37: 16:79633098-79633098
GRCh38: 16:79599201-79599201
25 MAF NM_005360.5(MAF):c.611G>T (p.Gly204Val) SNV Benign 474936 rs867401075 GRCh37: 16:79633189-79633189
GRCh38: 16:79599292-79599292
26 MAF NM_005360.5(MAF):c.715G>A (p.Ala239Thr) SNV Benign 474938 rs561314990 GRCh37: 16:79633085-79633085
GRCh38: 16:79599188-79599188

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

72
# 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 regulation of transcription by RNA polymerase II GO:0006357 9.56 PITX3 MAFK MAFG MAF
2 regulation of transcription, DNA-templated GO:0006355 9.46 PITX3 MAFK MAFG MAF
3 lens fiber cell differentiation GO:0070306 8.96 PITX3 MAF
4 lens development in camera-type eye GO:0002088 8.8 PITX3 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 9.56 PITX3 MAFK MAFG MAF
2 sequence-specific double-stranded DNA binding GO:1990837 9.54 PITX3 MAFG MAF
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.5 PITX3 MAFG MAF
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 PITX3 MAFK MAFG MAF
5 structural constituent of eye lens GO:0005212 8.96 CRYGA CRYAA
6 DNA-binding transcription factor activity GO:0003700 8.92 PITX3 MAFK MAFG MAF

Sources for Ayme-Gripp Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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