AFND
MCID: ACR041
MIFTS: 52

Acromelic Frontonasal Dysostosis (AFND)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Acromelic Frontonasal Dysostosis

MalaCards integrated aliases for Acromelic Frontonasal Dysostosis:

Name: Acromelic Frontonasal Dysostosis 56 12 52 58 73 36 29 6 43 15 71
Afnd 56 52 58 73
Acromelic Frontonasal Dysplasia 58 71
Dysostosis, Acromelic Frontonasal 39
Congenital Abnormalities 43
Toriello Syndrome 58
Sweet Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
acromelic frontonasal dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
brain anomalies variable
some patients do not exhibit limb anomalies


HPO:

31
acromelic frontonasal dysostosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Acromelic Frontonasal Dysostosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1827 Definition A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum ), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability . Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. Visit the Orphanet disease page for more resources.

MalaCards based summary : Acromelic Frontonasal Dysostosis, also known as afnd, is related to hypertelorism and kapur-toriello syndrome, and has symptoms including seizures An important gene associated with Acromelic Frontonasal Dysostosis is ZSWIM6 (Zinc Finger SWIM-Type Containing 6). The drugs Dexmedetomidine and Bleomycin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and bone, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations.

OMIM : 56 Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet. (603671)

KEGG : 36 Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. The mutations in ZSWIM6 have been shown to underlie this disorder.

UniProtKB/Swiss-Prot : 73 Acromelic frontonasal dysostosis: A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V- shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation.

Related Diseases for Acromelic Frontonasal Dysostosis

Diseases related to Acromelic Frontonasal Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 502)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 29.0 POGZ ALX3
2 kapur-toriello syndrome 12.7
3 sacral hemangiomas multiple congenital abnormalities 12.1
4 neutrophilic dermatosis, acute febrile 11.6
5 cryptorchidism, unilateral or bilateral 11.2
6 mosaic variegated aneuploidy syndrome 1 11.2
7 gallbladder cancer 11.2
8 syringomyelia 11.2
9 cervical rib 11.0
10 legg-calve-perthes disease 11.0
11 meckel diverticulum 11.0
12 tracheoesophageal fistula with or without esophageal atresia 11.0
13 ureterocele 11.0
14 velocardiofacial syndrome 11.0
15 duodenal atresia 11.0
16 tracheomalacia 11.0
17 hereditary lymphedema i 11.0
18 hereditary lymphedema 10.9
19 pituitary stalk interruption syndrome 10.9
20 dysostosis 10.7
21 hand-foot-genital syndrome 10.7
22 costello syndrome 10.7
23 t-cell immunodeficiency with thymic aplasia 10.7
24 pseudotrisomy 13 syndrome 10.7
25 branchial arch syndrome, x-linked 10.7
26 simpson-golabi-behmel syndrome, type 1 10.7
27 phace association 10.7
28 avascular necrosis of femoral head, primary, 1 10.7
29 encephalocraniocutaneous lipomatosis 10.7
30 mosaic variegated aneuploidy syndrome 2 10.7
31 schuurs-hoeijmakers syndrome 10.7
32 retinitis pigmentosa 82 with or without situs inversus 10.7
33 ciliary dyskinesia, primary, 29 10.7
34 you-hoover-fong syndrome 10.7
35 thauvin-robinet-faivre syndrome 10.7
36 gabriele-de vries syndrome 10.7
37 mosaic variegated aneuploidy syndrome 3 10.7
38 chromosome 10q23 deletion syndrome 10.7
39 laryngeal cleft 10.7
40 limb-body wall complex 10.7
41 syringobulbia 10.7
42 frontonasal dysplasia 1 10.5
43 polydactyly 10.5
44 lipomatosis, multiple 10.4
45 tibial hemimelia 10.4
46 alacrima, achalasia, and mental retardation syndrome 10.4
47 autosomal recessive disease 10.4
48 pleomorphic lipoma 10.4
49 hemimelia 10.4
50 acrocallosal syndrome 10.3

Graphical network of the top 20 diseases related to Acromelic Frontonasal Dysostosis:



Diseases related to Acromelic Frontonasal Dysostosis

Symptoms & Phenotypes for Acromelic Frontonasal Dysostosis

Human phenotypes related to Acromelic Frontonasal Dysostosis:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
5 thick nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0009928
6 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
7 meningocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002435
8 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
9 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
10 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
11 encephalocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002084
12 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
13 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
14 preaxial foot polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001841
15 midline central nervous system lipomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0006866
16 bifid nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000456
17 median cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0009099
18 bifid nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0011803
19 abnormality of the glabella 58 31 hallmark (90%) Very frequent (99-80%) HP:0002056
20 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
21 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
22 choroid plexus cyst 58 31 frequent (33%) Frequent (79-30%) HP:0002190
23 hypoplasia of the olfactory bulb 58 31 frequent (33%) Frequent (79-30%) HP:0040326
24 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
25 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
26 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
27 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
28 glaucoma 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000501
29 upper airway obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002781
30 aplasia/hypoplasia of the tibia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005772
31 patellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003065
32 large sella turcica 58 31 occasional (7.5%) Occasional (29-5%) HP:0002690
33 retrocerebellar cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0006951
34 anterior pituitary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010627
35 hypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0040075
36 u-shaped upper lip vermilion 31 occasional (7.5%) HP:0010806
37 seizure 31 occasional (7.5%) HP:0001250
38 vertical clivus 31 occasional (7.5%) HP:0010559
39 dermoid cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0025247
40 wide nasal bridge 31 HP:0000431
41 seizures 58 Occasional (29-5%)
42 cleft palate 31 HP:0000175
43 downslanted palpebral fissures 31 HP:0000494
44 cleft upper lip 31 HP:0000204
45 lipoma 31 HP:0012032
46 hypoplasia of the corpus callosum 31 HP:0002079
47 midline defect of the nose 31 HP:0004122
48 polydactyly 31 HP:0010442
49 syndactyly 31 HP:0001159
50 preaxial polydactyly 31 HP:0100258

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
telecanthus
downslanting palpebral fissures
myopia (in some patients)
glaucoma (rare)
more
Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
encephalocele
choroid plexus cyst
retrocerebellar cyst
more
Head And Neck Mouth:
cleft palate
cleft lip
carp-shaped mouth (in some patients)
midline notch in upper lip

Skeletal Hands:
preaxial polydactyly
preaxial polysyndactyly

Skeletal Limbs:
tibial hypoplasia
patellar hypoplasia or aplasia (in some patients)

Skeletal Skull:
persistent craniopharyngeal canal (rare)
vertical clivus (in some patients)

Skin Nails Hair Nails:
clubbed, thickened nails of halluces (1 patient)

Head And Neck Nose:
wide nasal bridge
broad nasal tip
bifid nasal tip
bifid nose
nostril notching
more
Head And Neck Head:
brachycephaly
cranium bifidum, anterior

Skeletal Feet:
talipes equinovarus
preaxial polydactyly

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Respiratory Airways:
upper airway obstruction, severe (in some patients)

Skin Nails Hair Skin:
vertical creases of plantar surface between first and second toes

Endocrine Features:
hypopituitarism (in some patients)

Clinical features from OMIM:

603671

UMLS symptoms related to Acromelic Frontonasal Dysostosis:


seizures

Drugs & Therapeutics for Acromelic Frontonasal Dysostosis

Drugs for Acromelic Frontonasal Dysostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 416)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
2
Bleomycin Approved, Investigational Phase 4 11056-06-7 5360373
3
Sodium Tetradecyl Sulfate Approved, Investigational Phase 4 1191-50-0, 139-88-8 5248 14492
4
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
5
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
8
Nalbuphine Approved Phase 4 20594-83-6 5311304 5360630
9
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
10
Lopinavir Approved Phase 4 192725-17-0 92727
11
Metformin Approved Phase 4 657-24-9 14219 4091
12
Clozapine Approved Phase 4 5786-21-0 2818
13
Alprostadil Approved, Investigational Phase 4 745-65-3 149351 5280723
14
Misoprostol Approved Phase 4 59122-46-2 5282381
15
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
16
Denosumab Approved Phase 4 615258-40-7
17
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
18
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
19
Zidovudine Approved Phase 4 30516-87-1 35370
20
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
21
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
22
Rilpivirine Approved Phase 4 500287-72-9
23
Cobicistat Approved Phase 4 1004316-88-4
24
Dolutegravir Approved Phase 4 1051375-16-6 54726191
25 Coconut Approved Phase 4
26
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
27
Sorbitol Approved Phase 4 50-70-4 5780
28
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965 14956
29
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
30
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
31
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
32
BCG vaccine Investigational Phase 4
33 Tocotrienol Investigational Phase 4 6829-55-6
34 Adrenergic alpha-Agonists Phase 4
35 Hypnotics and Sedatives Phase 4
36 Narcotics Phase 4
37 Analgesics, Non-Narcotic Phase 4
38 Adrenergic Agents Phase 4
39 Analgesics, Opioid Phase 4
40 Adrenergic Agonists Phase 4
41 Anti-Arrhythmia Agents Phase 4
42 Respiratory System Agents Phase 4
43 Sclerosing Solutions Phase 4
44 N-monoacetylcystine Phase 4
45 Sodium Channel Blockers Phase 4
46 Cyclooxygenase Inhibitors Phase 4
47 Anti-Inflammatory Agents, Non-Steroidal Phase 4
48 Antidotes Phase 4
49 Expectorants Phase 4
50 Antipyretics Phase 4

Interventional clinical trials:

(show top 50) (show all 718)
# Name Status NCT ID Phase Drugs
1 Compare the Effect of Bleomycin and Tetradecyl Sodium Sulphate in the Treatment of Venous Malformations Unknown status NCT01347294 Phase 4 Bleomycin;Fibrovein;Bleomycin + Fibrovein
2 Cohort Prospective Study of Children With Head and Neck Cystic Malformation Who Are Treated With Intracystic OK432 Unknown status NCT01699347 Phase 4 Intracystic injection of OK432 under US guiding
3 the Safety and Effect in TB Patients With NAC Unknown status NCT02889757 Phase 4 Acteylcysteine
4 The Impact of N-Acetylcysteine on Volumetric Retention of Autologous Fat Graft for Breast Asymmetry Correction Unknown status NCT03197103 Phase 4 N-Acetylcysteine (NAC)
5 Comparison of Analgesic Efficacy of Two Different Doses of Dexmedetomidine as Adjuncts to Lidocaine for Intravenous Regional Anesthesia: Randomized Clinical Trial. Unknown status NCT03399474 Phase 4 Dexmedetomidine Injection 0.25 ug/kg;Lidocaine;Nalbuphine;Paracetamol;Diclofenac sodium (Voltaren®);Dexmedetomidine Injection 0.5ug/kg
6 Epidural Analgesia and Troubles of Fetal Cardiaq Rythm : Effect of the Systemic Transfer of Ropivacaine and Sufentanil Completed NCT01686347 Phase 4 ropivacaine
7 Efficacy and Satisfaction Comparing Two Braces in the Treatment of DDH in Infants: A Randomized Clinical Trial Completed NCT01375218 Phase 4
8 The Ontario Multidetector Computed Tomography (MDCT) Coronary Angiography Study (OMCAS) Completed NCT00371891 Phase 4
9 A Clinical Evaluation Of Adipose Derived Regenerative Cells In The Treatment Of Patients With BrEast Deformities Post Segmental Breast ResecTion (Lumpectomy) With Or Without Radiation ThErapy. A Phase IV Post Market Study. Completed NCT00616135 Phase 4
10 NASHA/Dx as a Perianal Implant for the Treatment of Persistent Fecal Incontience After Anorectal Malformation Completed NCT03746834 Phase 4
11 A 3 Arm, Prospective Study to Compare the Effect of 6 Weeks Exposure to the Combination of Lopinavir (LPVr)/Combivir® (AZT/3TC) Versus Lopinavir Alone or Combivir® Alone in HIV-negative Healthy Subjects on the Development of Abnormalities of Lipid and Glucose Metabolism Completed NCT00192621 Phase 4 Combivir (zidovudine [AZT] / lamivudine [3TC]);Kaletra (lopinavir [LPVr])
12 OK432 (Picibanil) in the Treatment of Lymphatic Malformations Completed NCT03427619 Phase 4 OK432
13 SIGnificance of Routine Hysteroscopy Prior to a First 'in Vitro Fertilization'(IVF) Treatment Cycle Completed NCT01242852 Phase 4
14 Treatment of Metabolic Abnormalities in Patients With Schizophrenia: Adjunctive Low-dose Metformin in Patients With Schizophrenia and Metabolic Abnormalities Completed NCT02751307 Phase 4 metformin 500 mg;clozapine 100 mg
15 Feasibility Study Over the Neurally Adjusted Ventilatory Assist (NAVA) Mode in Noninvasive Ventilation After Cardiac Surgery in Infants. Completed NCT01570933 Phase 4
16 Efficacy of Rapamycin (Sirolimus) in the Treatment of Blue Rubber Bleb Nevus Syndrome, Hereditary or Sporadic Venous Malformation Recruiting NCT03767660 Phase 4 Rapamycin
17 Dilapan vs Misoprostol for Cervical Ripening [COMRED - Comparison of Misoprostol Ripening Efficacy With Dilapan] Recruiting NCT03670836 Phase 4 Misoprostol
18 Tenofovir Disoproxil Fumarate in Combination of Hepatitis B Vaccine With the Omission of Immune Globulin to Prevent Hepatitis B Transmission in Mother With High Viral Load: A Multi-Center, Prospective, Randomized and Open-Label Study Recruiting NCT03476083 Phase 4 Tenofovir Disoproxil Fumarate (TDF) 300 mg oral daily.
19 The Use of Gastrografin to Help Alleviate Bowel Obstruction Related to Poor Bowel Motility in Gastroschisis Patients. Recruiting NCT03334578 Phase 4 Gastrografin
20 Clinical and Radiographic Outcomes Using ViviGen® Cellular Bone Matrix for Complex Hindfoot Arthrodesis Enrolling by invitation NCT04138017 Phase 4
21 Comparative Study for Incidence of Proximal Junctional Kyphosis Between Parathyroid Hormone and Denosumab Following Adult Spinal Deformity Surgery : A Prospective, Randomized Controlled Trial Enrolling by invitation NCT04241211 Phase 4 Forsteo;Denosumab Prefilled Syringe [Prolia]
22 Contribution of the Integrase Inhibitor Dolutegravir to Obesity and Cardiovascular Disease in Persons Living With HIV Not yet recruiting NCT04340388 Phase 4 Dolutegravir 50 MG;Antiretroviral/Anti HIV
23 The Effects of Sequential Mitomycin and Bacillus Calmette-Guérin Treatment Versus Bacillus Calmette-Guérin Monotherapy in Patients With High Risk Non-Muscle Invasive Bladder Cancer Not yet recruiting NCT03790384 Phase 4 Mitomycin
24 A Radiographic and Clinical Outcomes Study Evaluating map3® Cellular Allogeneic Bone Graft in Patients Undergoing Bone Grafting in the Foot/Ankle Terminated NCT02161016 Phase 4
25 Are the Secondary Chromosome Abnormalities Seen in Chronic Myeloid Leukemia (CML) Cells Induced to Ph-Chromosome Negativity by Imatinib a Result of Chromosome Instability or a Side Effect of the Therapy - a Study in GIST (Gastrointestinal Stromal Cell Tumors) Patients Treated With Imatinib. Terminated NCT00461929 Phase 4
26 Incidence and Severity of Parenteral Nutrition Associated Cholestasis in Neonates Subjected to Major Surgery, Using Two Mixed Intravenous Lipid Emulsions Terminated NCT02633384 Phase 4
27 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
28 CLP 7463: Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Withdrawn NCT02079818 Phase 4
29 Rejuvenated, Washed Packed Red Blood Cells in Pediatric Cardiac Surgery Withdrawn NCT02485366 Phase 4 Rejuvesol
30 A Randomized Trial Investigating the Effect of Tranexamic Acid on Platelet Aggregation Following Infant Cardiopulmonary Bypass Withdrawn NCT02122679 Phase 4 Tranexamic Acid;placebo
31 Investigation of the Effect of a Customized Nasal Brace on Nasal Deformities With or Without Prior Surgery Unknown status NCT02348931 Phase 3
32 Pilot Study of Efficacy of Nail Gel Containing Artemisia Abrotanum Extract and Glycerin in Finger Nail Surface Abnormality Unknown status NCT02582762 Phase 3 Nail gel
33 Blood Oxygen Level Dependent fMRI Navigation for Function Protection in Intracranial Arteriovenous Malformation Surgery: a Multicenter Prospective Randomized Controlled Single Blind Clinical Trial Unknown status NCT01758211 Phase 3
34 Randomized Clinical Trial to Evaluate the Efficacy of High Dose of Folic Acid to Prevent the Occurrence of Congenital Malformations Unknown status NCT01244347 Phase 3 folic acid;folic acid
35 Routine Versus Selective Midtrimester Ultrasound in a Poorly Resourced Setting: a Cluster Randomised Controlled Trial Completed NCT00204139 Phase 3
36 A Multicenter, Open-label Study for E7040 in Japanese Subjects With Hypervascular Tumor and Subjects With Arteriovenous Malformation Completed NCT01677624 Phase 3
37 Treatment of Cystic Hygroma (Lymphangiomas) in Children- Picibanil(OK432) Sclerotherapy-Multicenter Trial Completed NCT00010452 Phase 2, Phase 3 picibanil
38 Safe Passages: Ensuring Quality Transitions From NICU to Ambulatory Care Completed NCT01088945 Phase 3
39 A Randomized Controlled Trial on Integrated Management of Pronation Deformity of Children With Cerebral Palsy Treated by Botulinum Toxin-A Completed NCT03472261 Phase 3 Botulinum toxin type A
40 Long Term Safety Study in Patients Included in the CLARINET Study With Cyanotic Congenital Heart Disease Palliated With a Systemic-to-pulmonary Artery Shunt and for Whom the Shunt is Still in Place at One Year of Age Completed NCT00833703 Phase 3 Clopidogrel;placebo
41 Triostat in Children During CardioPulmonary Bypass (CPB) Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
42 Multicenter, Open-label Study of the Safety (Open-label) and Efficacy (Open-label and Blinded Reader) of a Single Administration of Approximately 0.1 mmol/kg of Magnevist® Injection-enhanced Magnetic Resonance Arteriography (MRA) and 2-dimensional-time-of-flight (2D-TOF) MRA in Patients With Known or Suspected Disease of the Aortic Arch and Cerebral Branches Who Are Undergoing MRA of These Vessels With Intra-arterial Digital Subtraction Arteriography (i.a. DSA) as the Standard of Reference. Completed NCT00310609 Phase 3 Gadopentetate dimeglumine (Magnevist)
43 Prospective Randomized Study of Duragen vs. Duraguard in Chiari Surgery Completed NCT00741858 Phase 3
44 Objective Structured Assessment of Technical Skills Evaluation of Theoretical Compared With hands-on Training of Shoulder Dystocia Management: a Randomized Controlled Trial. Completed NCT01812304 Phase 3
45 Clinical Study on Efficacy and Safety of the mTor Rapamycin Inhibitor Found in the Complex Vascular Malformations Completed NCT01811667 Phase 3 Sirolimus
46 Effects of Glycopyrrolate/Formoterol (Bevespi) on Ventilation and Gas Exchange Abnormalities in COPD Assessed by 129Xe MRI Completed NCT03324607 Phase 2, Phase 3 hyperpolarized 129Xe gas MRI;Bevespi Aerosphere
47 International Randomized Double Blind Study Evaluating the Efficacy and the Safety of Clopidogrel 0.2 mg/kg Once Daily Versus Placebo in Neonates and Infants With Cyanotic Congenital Heart Disease Palliated With Systemic to Pulmonary Artery Shunt Completed NCT00396877 Phase 3 Clopidogrel (SR25990);placebo
48 Safety and Efficacy of Botox Injection in Alleviating Post-Operative Pain and Improving Quality of Life in Lower Extremity Limb Lengthening and Deformity Correction Completed NCT00412035 Phase 3 Botulinum toxin A injection;saline injection
49 A Randomized Trial of Unruptured Brain Arteriovenous Malformations Completed NCT00389181 Phase 3
50 Identifying Determinants and Optimizing Rehabilitation of Physical Activity for Children After the Fontan Procedure Completed NCT00363363 Phase 3

Search NIH Clinical Center for Acromelic Frontonasal Dysostosis

Cochrane evidence based reviews: congenital abnormalities

Genetic Tests for Acromelic Frontonasal Dysostosis

Genetic tests related to Acromelic Frontonasal Dysostosis:

# Genetic test Affiliating Genes
1 Acromelic Frontonasal Dysostosis 29 ZSWIM6

Anatomical Context for Acromelic Frontonasal Dysostosis

MalaCards organs/tissues related to Acromelic Frontonasal Dysostosis:

40
Heart, Brain, Bone, Breast, Testes, Olfactory Bulb, Eye

Publications for Acromelic Frontonasal Dysostosis

Articles related to Acromelic Frontonasal Dysostosis:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. 61 6 56
26706854 2016
2
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. 61 56 6
25105228 2014
3
Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance. 56 61
15264282 2004
4
Acromelic frontonasal dysostosis. 56 61
10190481 1999
5
Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. 56
19400543 2009
6
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? 56
8357003 1993
7
Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). 56
1733166 1992
8
Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective. 56
3146304 1986
9
Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression? 56
6627724 1983
10
Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling. 56
4767905 1973
11
Median cleft face syndrome. 56
5571207 1971
12
Ocular hypertelorism and nasal agenesis (midface syndrome) with limb anomalies. 56
5173220 1971
13
Frontonasal dysplasia. 56
5444583 1970
14
A case of likely acute febrile neutrophilic dermatosis in a 17-year-old male presenting to general paediatrics. 61
32532901 2020
15
HLA-A, -B, and -DRB1 genotyping and haplotype frequencies among Filipinos living in the National Capital Region of the Philippines. 61
32571529 2020
16
HLA-A, -B, -C, -DRB1 and -DQB1 alleles and haplotypes in 271 Southeast Asia Indians from Peninsular Malaysia. 61
32312605 2020
17
HLA-A, -B, -DRB1 and -DQB1 polymorphisms among Iraqi Arabs. 61
32223986 2020
18
Experiential avoidance in adolescents with borderline personality disorder: comparison with a non-BPD psychiatric group and healthy controls. 61
31185829 2020
19
The 27th annual Nucleic Acids Research database issue and molecular biology database collection. 61
31906604 2020
20
Next generation HLA typing and haplotypes by descent in Gaza individuals. 61
31787347 2020
21
Allele frequency net database (AFND) 2020 update: gold-standard data classification, open access genotype data and new query tools. 61
31722398 2020
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HLA-A, -B, -C, -DRB1 and -DQB1 alleles and haplotypes in 194 Southeast Asia Chinese from Peninsular Malaysia. 61
31558331 2019
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The pattern of HLA-A, -B and -DRB1 alleles and haplotypes of four Malay sub-ethnic groups namely Kelantan, Champa, Patani and Mandailing Malays of Peninsular Malaysia. 61
30836128 2019
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Sequence-based HLA-A, B, C, DP, DQ, and DR typing of 496 adults from San Diego, California, USA. 61
30278218 2018
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Cytokine gene polymorphisms in Iraqi Arabs. 61
29288696 2018
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Allele Frequency Net Database. 61
29858801 2018
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Antegrade versus retrograde facial nerve dissection in benign parotid surgery: Is there a difference in postoperative outcomes? A meta-analysis. 61
30339679 2018
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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. 61
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Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation. 61
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Cytokine gene polymorphisms in populations from Parana, Southern Brazil. 61
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Allele and genotype frequencies of polymorphisms in cytokine genes in ethnic Russian individuals from Moscow, Russia. 61
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HLA-A, -B, -C, -DRB1 and -DQB1 alleles and haplotypes in 951 Southeast Asia Malays from Peninsular Malaysia. 61
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Distribution of cytokine gene polymorphisms in six Orang Asli subgroups in Peninsular Malaysia. 61
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HLA-DRB1, -DQA1 and -DQB1 genotyping of 180 Czech individuals from the Czech Republic pop 3. 61
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Allele Frequencies Net Database: Improvements for storage of individual genotypes and analysis of existing data. 61
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A web resource for mining HLA associations with adverse drug reactions: HLA-ADR. 61
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HLA-A, -B, -C, and -DRB1 genotyping of 1000 Northern Irish individuals from Belfast, Northern Ireland in the United Kingdom. 61
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Allele frequency net 2015 update: new features for HLA epitopes, KIR and disease and HLA adverse drug reaction associations. 61
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16(th) IHIW: extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles. 61
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A database for curating the associations between killer cell immunoglobulin-like receptors and diseases in worldwide populations. 61
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Autoimmune clustering: sweet syndrome, Hashimoto thyroiditis, and psoriasis. 61
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Relevance of cerebral interleukin-6 after aneurysmal subarachnoid hemorrhage. 61
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Impact of hyperglycemia on neurological deficits and extracellular glucose levels in aneurysmal subarachnoid hemorrhage patients. 61
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Acute focal neurological deficits in aneurysmal subarachnoid hemorrhage: relation of clinical course, CT findings, and metabolite abnormalities monitored with bedside microdialysis. 61
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Schiff base chemistry of the rhenium(V)-oxo core with '3+2' ligand donor sets. 61
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[Acromelic frontonasal dysostosis]. 61
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Bronchial manifestation of acute febrile neutrophilic dermatosis (Sweet's syndrome). 61
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Neutrophilic dermal infiltrates in granulocytopenic patients with acute leukemia. 61
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Sweet's syndrome and chronic lymphocytic leukemia associated with scirrhous breast cancer. A case report. 61
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Variations for Acromelic Frontonasal Dysostosis

ClinVar genetic disease variations for Acromelic Frontonasal Dysostosis:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZSWIM6 NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)SNV Pathogenic/Likely pathogenic 155772 rs587777695 5:60839983-60839983 5:61544156-61544156
2 ZSWIM6 NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del)deletion Uncertain significance 548607 rs772099709 5:60628526-60628540 5:61332699-61332713
3 ZSWIM6 NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met)SNV Benign 585031 rs140760439 5:60825947-60825947 5:61530120-61530120

UniProtKB/Swiss-Prot genetic disease variations for Acromelic Frontonasal Dysostosis:

73
# Symbol AA change Variation ID SNP ID
1 ZSWIM6 p.Arg1163Trp VAR_071802 rs587777695

Copy number variations for Acromelic Frontonasal Dysostosis from CNVD:

7 (show all 27)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 17329 1 142400000 148000000 Microdeletions and microduplications Congenital abnormalities
2 28404 1 222100000 247249719 Duplication Congenital abnormalities
3 89430 15 18400000 25700000 Duplication Congenital abnormalities
4 107506 17 15900000 22100000 Deletion Congenital abnormalities
5 134872 2 108600000 113800000 Deletion Congenital abnormalities
6 134873 2 108600000 113800000 Deletion Congenital abnormalities
7 155744 20 57900000 62435964 Microdeletion ARFGAP1 Congenital abnormalities
8 155747 20 57900000 62435964 Microdeletion CHRNA4 Congenital abnormalities
9 155750 20 57900000 62435964 Microdeletion KCNQ2 Congenital abnormalities
10 157122 21 13200000 15300000 Duplication Congenital abnormalities
11 227678 7 71800000 77400000 Deletion Congenital abnormalities
12 258158 X 116800000 154913754 Deletion Congenital abnormalities
13 259711 X 140100000 154913754 Duplication Congenital abnormalities
14 262029 X 29400000 31500000 Duplication Congenital abnormalities
15 264071 X 6000000 9500000 Copy number Congenital abnormalities
16 264079 X 6000000 9500000 Deletion Congenital abnormalities
17 264080 X 6000000 9500000 Deletion Congenital abnormalities
18 264081 X 6000000 9500000 Deletion Congenital abnormalities
19 264082 X 6000000 9500000 Deletion Congenital abnormalities
20 264083 X 6000000 9500000 Deletion Congenital abnormalities
21 264084 X 6000000 9500000 Deletion Congenital abnormalities
22 264100 X 6000000 9500000 Duplication Congenital abnormalities
23 264101 X 6000000 9500000 Duplication Congenital abnormalities
24 264102 X 6000000 9500000 Duplication Congenital abnormalities
25 264103 X 6000000 9500000 Duplication Congenital abnormalities
26 264104 X 6000000 9500000 Duplication Congenital abnormalities
27 264105 X 6000000 9500000 Duplication Congenital abnormalities

Expression for Acromelic Frontonasal Dysostosis

Search GEO for disease gene expression data for Acromelic Frontonasal Dysostosis.

Pathways for Acromelic Frontonasal Dysostosis

GO Terms for Acromelic Frontonasal Dysostosis

Cellular components related to Acromelic Frontonasal Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Cul2-RING ubiquitin ligase complex GO:0031462 8.92 ZSWIM8 ZSWIM6 ZSWIM5 ZSWIM4

Biological processes related to Acromelic Frontonasal Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 roof of mouth development GO:0060021 9.26 WDPCP INTU
2 embryonic digit morphogenesis GO:0042733 9.16 WDPCP INTU
3 tongue morphogenesis GO:0043587 8.96 WDPCP INTU
4 regulation of axon guidance GO:1902667 8.92 ZSWIM8 ZSWIM6 ZSWIM5 ZSWIM4

Molecular functions related to Acromelic Frontonasal Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 8.92 ZSWIM8 ZSWIM6 ZSWIM5 ZSWIM4

Sources for Acromelic Frontonasal Dysostosis

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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