AMS
MCID: ABL002
MIFTS: 57

Ablepharon-Macrostomia Syndrome (AMS) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Skin diseases

Aliases & Classifications for Ablepharon-Macrostomia Syndrome

Aliases & Descriptions for Ablepharon-Macrostomia Syndrome:

Name: Ablepharon-Macrostomia Syndrome 54 24 66 69
Ablepharon Macrostomia Syndrome 12 50 56 29 42 14
Eye Abnormalities 42 69
Ams 50 66
Congenital Ablepharon, Absent Eyelashes/eyebrows, Macrostomia, Auricular, Nasal, Genital and Other Systemic Anomalies 50
Poikiloderma with Neutropenia, Clericuzio Type 12
Macrostomia 42

Characteristics:

Orphanet epidemiological data:

56
ablepharon macrostomia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

32
ablepharon-macrostomia syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 200110
Disease Ontology 12 DOID:0060550
Orphanet 56 ORPHA920
MESH via Orphanet 43 C535557
UMLS via Orphanet 70 C1860224
ICD10 via Orphanet 34 Q87.0
MedGen 40 C1860224
UMLS 69 C1860224

Summaries for Ablepharon-Macrostomia Syndrome

NIH Rare Diseases : 50 ablepharon macrostomia syndrome is genetic disorder characterized by absent eyelids (ablepharon) and very large mouth (macrostomia). other common signs and symptoms include abnormal external ears, fusion (syndactyly) of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations, and developmental delay. other reported findings include underdeveloped cheeks (malar hypoplasia), absent or very small (hypoplastic) nipples, umbilical abnormalities and growth retardation. it belongs to a group of diseases called ectodermal dysplasias (genetic disorders that involve defects in the skin, hair, nails, sweat glands, and/or teeth). ablepharon macrostomia syndrome is caused by mutations in the twist2 gene. inheritance is autosomal dominant, but most cases are sporadic (when there are no other cases in the family). treatment is aimed toward correcting the problems that are present. mutations in twist2 gene also cause the barber say syndrome and setleis syndrome, other ectodermal dysplasia syndromes which have very similar features.   last updated: 3/6/2017

MalaCards based summary : Ablepharon-Macrostomia Syndrome, also known as ablepharon macrostomia syndrome, is related to coronary artery disease and macrostomia, isolated, and has symptoms including dry skin, hearing impairment and global developmental delay. An important gene associated with Ablepharon-Macrostomia Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. The drugs Verteporfin and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are growth/size/body region and craniofacial

Disease Ontology : 12 A syndrome characterized by by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37.

OMIM : 54 Ablepharon-macrostomia syndrome is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia,... (200110) more...

UniProtKB/Swiss-Prot : 66 Ablepharon-macrostomia syndrome: A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth.

Wikipedia : 71 Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder... more...

Related Diseases for Ablepharon-Macrostomia Syndrome

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

(show top 50) (show all 231)
id Related Disease Score Top Affiliating Genes
1 coronary artery disease 26.0 APP CPN1 ENSG00000274450 FKRP FKTN FRAS1
2 macrostomia, isolated 12.3
3 mandibulofacial dysostosis with macroblepharon and macrostomia 12.0
4 poikiloderma with neutropenia 11.9
5 apparent mineralocorticoid excess 11.8
6 phace syndrome 11.4
7 acute mountain sickness 11.1
8 amenorrhea 11.1
9 alport syndrome 11.0
10 walker-warburg syndrome 10.9
11 walker dyson syndrome 10.8
12 dysplastic nevus syndrome 10.8
13 hemosiderosis 10.8
14 microphthalmia 10.7
15 aniridia 10.7
16 alport syndrome, autosomal recessive 10.6
17 alport syndrome, autosomal dominant 10.6
18 knobloch syndrome, type 1 10.5
19 stickler syndrome 10.5
20 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.5
21 rubinstein-taybi syndrome 10.5
22 pierson syndrome 10.5
23 congenital disorder of glycosylation, type iik 10.5
24 peroxisome biogenesis disorder 12a 10.3
25 oculodentodigital dysplasia 10.3
26 peroxisome biogenesis disorder 2a 10.3
27 mucolipidosis iv 10.3
28 cutis verticis gyrata 10.3
29 branchiooculofacial syndrome 10.3
30 stickler syndrome, type i 10.3
31 hallermann-streiff syndrome 10.3
32 chromosome 1q21.1 deletion syndrome 10.3
33 de barsy syndrome 10.3
34 peroxisome biogenesis disorder 11a 10.3
35 stickler syndrome, type iii 10.3
36 corneal dystrophy, congenital stromal 10.3
37 may-hegglin anomaly 10.3
38 mowat-wilson syndrome 10.3
39 peroxisome biogenesis disorder 4a 10.3
40 kaufman oculocerebrofacial syndrome 10.3
41 fechtner syndrome 10.3
42 fetal retinoid syndrome 10.3
43 cleidocranial dysplasia 10.3
44 sebastian syndrome 10.3
45 marcus gunn phenomenon 10.3
46 peroxisome biogenesis disorder 10a 10.3
47 weill-marchesani syndrome 3, recessive 10.3
48 epstein syndrome 10.3
49 peroxisome biogenesis disorder 6a 10.3
50 peroxisome biogenesis disorder 5a 10.3

Graphical network of the top 20 diseases related to Ablepharon-Macrostomia Syndrome:



Diseases related to Ablepharon-Macrostomia Syndrome

Symptoms & Phenotypes for Ablepharon-Macrostomia Syndrome

Symptoms by clinical synopsis from OMIM:

200110

Clinical features from OMIM:

200110

Human phenotypes related to Ablepharon-Macrostomia Syndrome:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 56 32 Frequent (79-30%) HP:0000958
2 hearing impairment 56 32 Frequent (79-30%) HP:0000365
3 global developmental delay 56 32 Frequent (79-30%) HP:0001263
4 depressed nasal bridge 56 32 Occasional (29-5%) HP:0005280
5 corneal opacity 56 32 Frequent (79-30%) HP:0007957
6 delayed speech and language development 56 32 Very frequent (99-80%) HP:0000750
7 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
8 microtia 56 32 Very frequent (99-80%) HP:0008551
9 anteverted nares 56 32 Frequent (79-30%) HP:0000463
10 visual impairment 56 32 Frequent (79-30%) HP:0000505
11 thin skin 56 32 Frequent (79-30%) HP:0000963
12 corneal erosion 56 32 Occasional (29-5%) HP:0200020
13 microdontia 56 32 Frequent (79-30%) HP:0000691
14 aplasia/hypoplasia of the nipples 56 32 Frequent (79-30%) HP:0006709
15 growth delay 56 32 Occasional (29-5%) HP:0001510
16 underdeveloped nasal alae 56 32 Very frequent (99-80%) HP:0000430
17 myopia 56 32 Frequent (79-30%) HP:0000545
18 wide mouth 56 32 Very frequent (99-80%) HP:0000154
19 hypoplasia of the maxilla 56 32 Frequent (79-30%) HP:0000327
20 fine hair 56 32 Very frequent (99-80%) HP:0002213
21 hypoplasia of penis 56 32 Frequent (79-30%) HP:0008736
22 abnormal hair pattern 56 32 Occasional (29-5%) HP:0010720
23 redundant skin 56 32 Very frequent (99-80%) HP:0001582
24 thin vermilion border 56 32 Occasional (29-5%) HP:0000233
25 ambiguous genitalia 56 32 Frequent (79-30%) HP:0000062
26 abnormality of skin pigmentation 56 32 Occasional (29-5%) HP:0001000
27 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
28 toe syndactyly 56 32 Occasional (29-5%) HP:0001770
29 atresia of the external auditory canal 56 32 Occasional (29-5%) HP:0000413
30 sparse hair 56 32 Very frequent (99-80%) HP:0008070
31 omphalocele 56 32 Occasional (29-5%) HP:0001539
32 absent eyelashes 56 32 Very frequent (99-80%) HP:0000561
33 abnormality of female external genitalia 56 32 Frequent (79-30%) HP:0000055
34 excessive wrinkled skin 56 32 Frequent (79-30%) HP:0007392
35 breast hypoplasia 56 32 Frequent (79-30%) HP:0003187
36 cryptophthalmos 56 32 Frequent (79-30%) HP:0001126
37 absent eyebrow 56 32 Very frequent (99-80%) HP:0002223
38 ablepharon 56 32 Very frequent (99-80%) HP:0011224
39 hypertelorism 32 HP:0000316
40 abnormal nasal morphology 32 HP:0005105
41 talipes equinovarus 32 HP:0001762
42 cheekbone underdevelopment 56 Very frequent (99-80%)
43 short upper lip 32 HP:0000188
44 ventral hernia 32 HP:0002933
45 microtia, third degree 32 HP:0011267
46 hypoplasia of the zygomatic bone 32 HP:0010669

UMLS symptoms related to Ablepharon-Macrostomia Syndrome:


eye manifestations, dry skin

MGI Mouse Phenotypes related to Ablepharon-Macrostomia Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.23 TWIST2 APP FKRP FKTN FRAS1 FREM2
2 craniofacial MP:0005382 10.15 FKRP FRAS1 FREM2 LARGE1 PAX6 POMGNT1
3 immune system MP:0005387 10.14 APP CPN1 FKRP FKTN LARGE1 LAX1
4 mortality/aging MP:0010768 10.13 APP FKRP FKTN FRAS1 FREM2 LARGE1
5 digestive/alimentary MP:0005381 10.02 FRAS1 LARGE1 PAX6 POMGNT1 SMAD4 SOX2
6 muscle MP:0005369 10 APP FKRP FKTN FREM2 LARGE1 PAX6
7 integument MP:0010771 9.91 APP FRAS1 FREM2 PAX6 SMAD4 SOX2
8 hearing/vestibular/ear MP:0005377 9.83 FREM2 LARGE1 PAX6 SOX2 TWIST2
9 reproductive system MP:0005389 9.81 APP FREM2 LARGE1 OCRL PAX6 POMGNT1
10 skeleton MP:0005390 9.56 FKRP FRAS1 FREM2 LARGE1 PAX6 SMAD4
11 vision/eye MP:0005391 9.28 PAX6 POMGNT1 SOX2 TWIST2 FKRP FRAS1

Drugs & Therapeutics for Ablepharon-Macrostomia Syndrome

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

(show top 50) (show all 411)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 4,Phase 3 129497-78-5
2
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 1 216974-75-3
3
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
4
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
5
Acetylcholine Approved Phase 4,Phase 3,Phase 1 51-84-3 187
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3 50-02-2 5743
7
Eplerenone Approved Phase 4 107724-20-9 150310 443872
8
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
9
Benzocaine Approved Phase 4,Phase 2 1994-09-7, 94-09-7 2337
10
Desflurane Approved Phase 4,Phase 2 57041-67-5 42113
11
Isoflurane Approved, Vet_approved Phase 4,Phase 2 26675-46-7 3763
12
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
13
Sevoflurane Approved, Vet_approved Phase 4,Phase 2 28523-86-6 5206
14
Levoleucovorin Approved Phase 4 68538-85-2
15
Pyrimethamine Approved, Vet_approved Phase 4 58-14-0 4993
16
Spiramycin Approved Phase 4 24916-50-5
17
Sulfadiazine Approved, Vet_approved Phase 4 68-35-9 5215
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
19
leucovorin Approved, Nutraceutical Phase 4,Phase 2 58-05-9 54575, 6560146 143
20 tannic acid Approved, Nutraceutical Phase 4,Phase 2
21 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
23 Hormones Phase 4,Phase 3,Phase 2,Phase 1
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
25 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Central Nervous System Depressants Phase 4,Phase 2,Phase 1,Early Phase 1
27 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Micronutrients Phase 4,Phase 2,Phase 1
29 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
30 Trace Elements Phase 4,Phase 2,Phase 1
31 Vitamin B Complex Phase 4,Phase 2
32 Vitamins Phase 4,Phase 2,Phase 1
33 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Adrenergic alpha-1 Receptor Antagonists Phase 4
35 Adrenergic alpha-Antagonists Phase 4
36 Adrenergic Antagonists Phase 4,Phase 2,Phase 1
37 abobotulinumtoxinA Phase 4,Phase 3,Phase 1
38 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1
39 Cholinergic Agents Phase 4,Phase 3,Phase 1
40 incobotulinumtoxinA Phase 4,Phase 3,Phase 1
41 onabotulinumtoxinA Phase 4,Phase 3,Phase 1
42 Antiemetics Phase 4,Phase 3,Phase 2,Phase 1
43 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
45 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
46 BB 1101 Phase 4,Phase 3
47 Dexamethasone 21-phosphate Phase 4,Phase 3
48 Dexamethasone acetate Phase 4,Phase 3 1177-87-3
49 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
50 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 416)
id Name Status NCT ID Phase
1 Intravitreal Macugen for Ischaemic Diabetic Macular Oedema Completed NCT01175070 Phase 4
2 The Effects of α-adrenergic Receptor Antagonists on Choroid and Pupil Completed NCT03144596 Phase 4
3 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4
4 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
5 Study of the Effectiveness of Ozurdex for the Control of Uveitis Recruiting NCT02049476 Phase 4
6 Photodynamic Therapy Versus Eplerenone: Treatment Trial for Chronic Central Serous Chorioretinopathy Recruiting NCT03079141 Phase 4
7 CPAP Effect on the Progression of Diabetic Retinopathy in Patients With Sleep Apnea Recruiting NCT02874313 Phase 4
8 The Effect of Desflurane vs Sevoflurane on Perioperative Respiratory Complications in Laryngeal Mask Airway Anesthesia Recruiting NCT03006250 Phase 4
9 Pyrimethamine, Sulfadiazine, and Leucovorin in Treating Patients With Congenital Toxoplasmosis Recruiting NCT00004317 Phase 4
10 Peripheral and Macular Retinal Vascular Perfusion and Leakage in DME and RVO Active, not recruiting NCT02503540 Phase 4
11 Clinical Trial to Determine the Efficacy of Sculptra™ Dermal Filler for the Correction of Contour Deformities Caused by Lipoatrophy Withdrawn NCT00360139 Phase 4
12 Prosthetic Motility and Complications in Pegged Versus Unpegged Hydroxyapatite Orbital Implants Unknown status NCT00371280 Phase 2, Phase 3
13 Clinical Effect of a Nasal Former in Nasal Deformities Unknown status NCT02348931 Phase 3
14 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3
15 An Open Study Comparing the Effects of Moxaverine on Ocular Blood Flow in Patients With Age- Related Macular Degeneration, Primary Open Angle Glaucoma and Healthy Control Subjects Completed NCT00709449 Phase 2, Phase 3
16 Trial Comparing Patching Versus Atropine for Amblyopia in 7 to < 13 Year Olds Completed NCT00315328 Phase 3
17 Steroid Injections vs. Standard Treatment for Macular Edema Due to Retinal Blood Vessel Blockage Completed NCT00106132 Phase 3
18 Laser and Medical Treatment of Diabetic Macular Edema Completed NCT00050479 Phase 3
19 Trial to Assess the Ocular Safety of Vorapaxar (SCH 530348) in Participants With Atherosclerosis (Study P05183) Completed NCT00617123 Phase 3
20 Triamcinolone Acetonide Plus Laser Therapy to Treat Age-Related Macular Degeneration Completed NCT00100009 Phase 3
21 Phase III Randomized, Placebo-Controlled Study of Acyclovir Oral Suspension for Neonatal Herpes Simplex Virus Infection Limited to the Skin, Eyes, and Mouth Completed NCT00004757 Phase 3
22 Cyclosporine Eye Drops in Preventing Graft-Versus-Host Disease of the Eye in Patients Who Have Undergone Donor Stem Cell Transplant for Hematologic Cancer or Bone Marrow Failure Disorder Completed NCT00755040 Phase 3
23 Efficacy and Safety of Primovist in Chinese Patients Completed NCT00526188 Phase 3
24 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3
25 Tasimelteon for the Treatment of Non-24-hour Sleep-Wake Disorder (N24HSWD) in Blind Individuals With no Light Perception Completed NCT01429116 Phase 3
26 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3
27 Efficacy and Safety of FTY720 in de Novo Adult Renal Transplant Recipients Completed NCT00239876 Phase 3
28 Study Comparing Moxidectin And Ivermectin In Subjects With Onchocerca Volvulus Infection Completed NCT00790998 Phase 3
29 T790M Plasma Testing Methodology Comparison and Clinical Validation Recruiting NCT02997501 Phase 3
30 Real World Treatment Study of AZD9291 for Advanced/Metastatic EGFR T790M Mutation NSCLC Recruiting NCT02474355 Phase 3
31 Rainbow Extension Study Recruiting NCT02640664 Phase 3
32 A Study to Assess the Efficacy and Safety of Abatacept in Adults With Active Primary Sjögrens Syndrome Recruiting NCT02915159 Phase 3
33 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
34 Comparison Between Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Active, not recruiting NCT02843386 Phase 3
35 Safety And Efficacy Of Sildenafil In Children With Pulmonary Arterial Hypertension Active, not recruiting NCT01642407 Phase 3
36 Daunorubicin, Cytarabine, and Midostaurin in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia Active, not recruiting NCT00651261 Phase 3
37 Topical Everolimus in Patients With Tuberous Sclerosis Complex Not yet recruiting NCT02860494 Phase 2, Phase 3
38 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3
39 CLAIR -FO: Clinical Trial of Ophthalmic Insert Mydriasert® Versus Reference Treatment Terminated NCT00642135 Phase 3
40 Study to Evaluate Eye Function in Patients Taking Linezolid for Six Weeks or Greater Terminated NCT00359632 Phase 3
41 Open Label Study to Assess Long-term Safety of Repeat Administration of Botulinum Toxin Type A for Moderate to Severe Crow's Feet Lines Terminated NCT01818076 Phase 3
42 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3
43 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3
44 Safety of Photodynamic Therapy (PDT) in the Ablation of High-grade Dysplasia (HGD) in Barrett's Esophagus (BE) Withdrawn NCT01209013 Phase 3
45 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
46 Single-Blind Study Determining the Efficacy of Polypodium Leucotomos Extract Supplement in Decreasing Ultraviolet A (UVA) Premutagenic and Photoaging Markers Unknown status NCT00520910 Phase 2
47 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
48 A Randomized, Placebo-controlled Study Investigating the Effects of Moxaverine on Ocular Blood Flow After Oral Administration in Healthy Subjects Completed NCT01629680 Phase 2
49 Effects of Moxaverine and Placebo on Ocular Blood Flow Completed NCT00709423 Phase 2
50 A Randomized, Double-Masked, Placebo-Controlled Two Cross Over Study Comparing the Effects of Moxaverine and Placebo on Ocular Blood Flow Completed NCT00569621 Phase 2

Search NIH Clinical Center for Ablepharon-Macrostomia Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: macrostomia

Genetic Tests for Ablepharon-Macrostomia Syndrome

Genetic tests related to Ablepharon-Macrostomia Syndrome:

id Genetic test Affiliating Genes
1 Ablepharon Macrostomia Syndrome 29
2 Ablepharon-Macrostomia Syndrome 24 TWIST2

Anatomical Context for Ablepharon-Macrostomia Syndrome

MalaCards organs/tissues related to Ablepharon-Macrostomia Syndrome:

39
Skin, Eye, Bone, Breast

Publications for Ablepharon-Macrostomia Syndrome

Articles related to Ablepharon-Macrostomia Syndrome:

(show all 17)
id Title Authors Year
1
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. ( 27196381 )
2016
2
A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. ( 26600791 )
2015
3
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. ( 24115501 )
2013
4
Ablepharon-Macrostomia syndrome--extension of the phenotype. ( 22002929 )
2011
5
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. ( 21595001 )
2011
6
Clinical variant of ablepharon macrostomia syndrome. ( 23198177 )
2011
7
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. ( 19760652 )
2009
8
Ablepharon-macrostomia syndrome in a 46-year-old woman. ( 15103726 )
2004
9
Ablepharon-macrostomia syndrome. ( 11807864 )
2002
10
Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities. ( 11746001 )
2001
11
Familial occurrence of ablepharon macrostomia syndrome: eyelid structure and surgical considerations. ( 10721975 )
2000
12
Ablepharon-macrostomia syndrome: first report of familial occurrence. ( 11038439 )
2000
13
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. ( 8834257 )
1996
14
Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome. ( 8746822 )
1995
15
Ablepharon macrostomia syndrome. ( 2036354 )
1991
16
A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence. ( 3293678 )
1988
17
Ablepharon macrostomia syndrome. ( 4003491 )
1985

Variations for Ablepharon-Macrostomia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Ablepharon-Macrostomia Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 TWIST2 p.Glu75Lys VAR_074675 rs796065049

ClinVar genetic disease variations for Ablepharon-Macrostomia Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TWIST2 NM_057179.2(TWIST2): c.223G> A (p.Glu75Lys) single nucleotide variant Pathogenic rs796065049 GRCh38 Chromosome 2, 238848438: 238848438

Expression for Ablepharon-Macrostomia Syndrome

Search GEO for disease gene expression data for Ablepharon-Macrostomia Syndrome.

Pathways for Ablepharon-Macrostomia Syndrome

Pathways related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 APP PAX6 SMAD4 SOX2
2 11.59 PAX6 SMAD4 SOX2
3 11.47 PAX6 SMAD4 SOX2
4 10.38 FKRP FKTN LARGE1 POMGNT1 POMT1

GO Terms for Ablepharon-Macrostomia Syndrome

Cellular components related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.23 APP CPN1 FKRP FKTN LARGE1 LAX1

Biological processes related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 forebrain development GO:0030900 9.54 APP PAX6 SOX2
2 negative regulation of neuron differentiation GO:0045665 9.43 APP PAX6 SOX2
3 morphogenesis of an epithelium GO:0002009 9.4 FRAS1 FREM2
4 protein glycosylation GO:0006486 9.35 FKRP FKTN LARGE1 POMGNT1 POMT1
5 protein O-linked glycosylation GO:0006493 9.33 LARGE1 POMGNT1 POMT1
6 glycoprotein biosynthetic process GO:0009101 9.32 FKRP LARGE1
7 protein O-linked mannosylation GO:0035269 8.92 FKRP FKTN LARGE1 POMT1

Molecular functions related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 R-SMAD binding GO:0070412 8.96 PAX6 SMAD4
2 acetylglucosaminyltransferase activity GO:0008375 8.62 LARGE1 POMGNT1

Sources for Ablepharon-Macrostomia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....