AFND
MCID: ACR041
MIFTS: 50

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 57 12 53 59 74 37 29 6 44 15 72
Afnd 57 53 59 74
Acromelic Frontonasal Dysplasia 59 72
Dysostosis, Acromelic Frontonasal 40
Congenital Abnormalities 44
Toriello Syndrome 59
Sweet Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
acromelic frontonasal dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
acromelic frontonasal dysostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060342
OMIM 57 603671
KEGG 37 H02210
MESH via Orphanet 45 C535657
ICD10 via Orphanet 34 Q75.8
UMLS via Orphanet 73 C0796182
Orphanet 59 ORPHA1827
MedGen 42 C1863616
UMLS 72 C0085077 C0796182 C1863616

Summaries for Acromelic Frontonasal Dysostosis

UniProtKB/Swiss-Prot : 74 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.

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

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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1827DefinitionA 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.

OMIM : 57 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 : 37
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.

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 511)
# Related Disease Score Top Affiliating Genes
1 kapur-toriello syndrome 12.7
2 sacral hemangiomas multiple congenital abnormalities 12.1
3 neutrophilic dermatosis, acute febrile 11.6
4 cryptorchidism, unilateral or bilateral 11.2
5 mosaic variegated aneuploidy syndrome 1 11.2
6 gallbladder cancer 11.2
7 syringomyelia 11.2
8 cervical rib 11.0
9 legg-calve-perthes disease 11.0
10 ureterocele 11.0
11 velocardiofacial syndrome 11.0
12 duodenal atresia 11.0
13 tracheomalacia 11.0
14 tracheoesophageal fistula 11.0
15 hereditary lymphedema 10.9
16 pituitary stalk interruption syndrome 10.9
17 hand-foot-genital syndrome 10.7
18 costello syndrome 10.7
19 pseudotrisomy 13 syndrome 10.7
20 branchial arch syndrome, x-linked 10.7
21 simpson-golabi-behmel syndrome, type 1 10.7
22 phace association 10.7
23 avascular necrosis of femoral head, primary, 1 10.7
24 encephalocraniocutaneous lipomatosis 10.7
25 mosaic variegated aneuploidy syndrome 2 10.7
26 schuurs-hoeijmakers syndrome 10.7
27 retinitis pigmentosa 82 with or without situs inversus 10.7
28 ciliary dyskinesia, primary, 29 10.7
29 you-hoover-fong syndrome 10.7
30 thauvin-robinet-faivre syndrome 10.7
31 gabriele-de vries syndrome 10.7
32 mosaic variegated aneuploidy syndrome 3 10.7
33 chromosome 10q23 deletion syndrome 10.7
34 hereditary lymphedema i 10.7
35 laryngeal cleft 10.7
36 limb-body wall complex 10.7
37 phace syndrome 10.7
38 syringobulbia 10.7
39 woolly hair syndrome 10.7
40 dysostosis 10.7
41 frontonasal dysplasia 1 10.5
42 polydactyly 10.5
43 lipomatosis, multiple 10.4
44 tibial hemimelia 10.4
45 alacrima, achalasia, and mental retardation syndrome 10.4
46 autosomal recessive disease 10.4
47 pleomorphic lipoma 10.4
48 hemimelia 10.4
49 polydactyly, postaxial, type a1 10.3
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:

59 32 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
6 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
7 thick nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0009928
8 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
9 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
10 meningocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002435
11 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
12 encephalocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002084
13 abnormal toenail morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0008388
14 median cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0009099
15 bifid nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0011803
16 preaxial foot polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001841
17 bifid nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000456
18 midline central nervous system lipomas 59 32 hallmark (90%) Very frequent (99-80%) HP:0006866
19 abnormality of the glabella 59 32 hallmark (90%) Very frequent (99-80%) HP:0002056
20 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
21 median cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0000161
22 hypoplasia of the olfactory bulb 59 32 frequent (33%) Frequent (79-30%) HP:0040326
23 choroid plexus cyst 59 32 frequent (33%) Frequent (79-30%) HP:0002190
24 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
25 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
26 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
27 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
28 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
29 glaucoma 59 32 occasional (7.5%) Very rare (<4-1%) HP:0000501
30 upper airway obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002781
31 aplasia/hypoplasia of the tibia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005772
32 retrocerebellar cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0006951
33 patellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003065
34 hypopituitarism 59 32 occasional (7.5%) Occasional (29-5%) HP:0040075
35 anterior pituitary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010627
36 large sella turcica 59 32 occasional (7.5%) Occasional (29-5%) HP:0002690
37 u-shaped upper lip vermilion 32 occasional (7.5%) HP:0010806
38 vertical clivus 32 occasional (7.5%) HP:0010559
39 dermoid cyst 59 32 very rare (1%) Very rare (<4-1%) HP:0025247
40 wide nasal bridge 32 HP:0000431
41 cleft palate 32 HP:0000175
42 cleft upper lip 32 HP:0000204
43 downslanted palpebral fissures 32 HP:0000494
44 lipoma 32 HP:0012032
45 hypoplasia of the corpus callosum 32 HP:0002079
46 syndactyly 32 HP:0001159
47 polydactyly 32 HP:0010442
48 midline defect of the nose 32 HP:0004122
49 preaxial polydactyly 32 HP:0100258
50 onychogryposis 32 HP:0001805

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
telecanthus
downslanting palpebral fissures
myopia (in some patients)
glaucoma (rare)
more
Head And Neck Nose:
wide nasal bridge
broad nasal tip
bifid nose
bifid nasal tip
nostril notching
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)

Neurologic Central Nervous System:
agenesis of corpus callosum
seizures
encephalocele
retrocerebellar cyst
choroid plexus cyst
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 455)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bleomycin Approved, Investigational Phase 4 11056-06-7 5360373
2
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
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
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
6
Lopinavir Approved Phase 4 192725-17-0 92727
7
Metformin Approved Phase 4 657-24-9 4091 14219
8
Clozapine Approved Phase 4 5786-21-0 2818
9 Ethiodized oil Approved, Investigational Phase 4 8008-53-5
10
Alprostadil Approved, Investigational Phase 4 745-65-3 5280723 149351
11
Misoprostol Approved Phase 4 59122-46-2 5282381
12
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
13
Acetaminophen Approved Phase 4 103-90-2 1983
14
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
15
Nalbuphine Approved Phase 4 20594-83-6 5360630 5311304
16
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
17
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
18 Coconut Approved Phase 4
19
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
20
Sorbitol Approved Phase 4 50-70-4 5780
21
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
22
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
24
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
25
BCG vaccine Investigational Phase 4
26 Tocotrienol Investigational Phase 4 6829-55-6
27 Free Radical Scavengers Phase 4
28 Antidotes Phase 4
29 N-monoacetylcystine Phase 4
30 Expectorants Phase 4
31 Sclerosing Solutions Phase 4
32 Hypoglycemic Agents Phase 4
33 Calamus Phase 4
34 Picibanil Phase 4
35 Cytochrome P-450 CYP3A Inhibitors Phase 4
36 GABA Agents Phase 4
37 Serotonin Agents Phase 4
38 Serotonin Antagonists Phase 4
39 Antibodies Phase 4
40 Immunoglobulins Phase 4
41 Reverse Transcriptase Inhibitors Phase 4
42 Anti-HIV Agents Phase 4
43 Antiviral Agents Phase 4
44 Anti-Retroviral Agents Phase 4
45 Antacids Phase 4
46 Oxytocics Phase 4
47 Anti-Ulcer Agents Phase 4
48 gamma-Globulins Phase 4
49 Immunoglobulins, Intravenous Phase 4
50 Rho(D) Immune Globulin Phase 4

Interventional clinical trials:

(show top 50) (show all 672)
# Name Status NCT ID Phase Drugs
1 Effect of Dexmedetomidine Combined With Sufentanil for Postoperative Intravenous Analgesia in Neurosurgery: A Randomized Controlled Study Unknown status NCT02552459 Phase 4 Sufentanil;dexmedetomidine 1;dexmedetomidine 2;dexmedetomidine 3
2 the Safety and Effect in TB Patients With NAC Unknown status NCT02889757 Phase 4 Acteylcysteine
3 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
4 Compare the Effect of Bleomycin and Tetradecyl Sodium Sulphate in the Treatment of Venous Malformations Unknown status NCT01347294 Phase 4 Bleomycin;Fibrovein;Bleomycin + Fibrovein
5 The Impact of N-Acetylcysteine on Volumetric Retention of Autologous Fat Graft for Breast Asymmetry Correction Unknown status NCT03197103 Phase 4 N-Acetylcysteine (NAC)
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 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
9 NASHA/Dx as a Perianal Implant for the Treatment of Persistent Fecal Incontience After Anorectal Malformation Completed NCT03746834 Phase 4
10 The Ontario Multidetector Computed Tomography (MDCT) Coronary Angiography Study (OMCAS) Completed NCT00371891 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 Safety and Efficacy of Lipiodol® Ultra Fluid in Association With Surgical Glues During Vascular Embolization. A Phase IV Study. Recruiting NCT02625389 Phase 4 Lipiodol® Ultra Fluid with surgical glues
18 Dilapan vs Misoprostol for Cervical Ripening [COMRED - Comparison of Misoprostol Ripening Efficacy With Dilapan] Recruiting NCT03670836 Phase 4 Misoprostol
19 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.
20 The Use of Gastrografin to Help Alleviate Bowel Obstruction Related to Poor Bowel Motility in Gastroschisis Patients. Recruiting NCT03334578 Phase 4 Gastrografin
21 Rejuvenated, Washed Packed Red Blood Cells in Pediatric Cardiac Surgery Not yet recruiting NCT02485366 Phase 4 Rejuvesol
22 Comparison of Analgesic Efficacy of Two Different Doses of Dexmedetomidine as Adjuncts to Lidocaine for Intravenous Regional Anesthesia: Randomized Clinical Trial. Not yet recruiting NCT03399474 Phase 4 Dexmedetomidine Injection 0.25 ug/kg;Lidocaine;Nalbuphine;Paracetamol;Diclofenac sodium (Voltaren®);Dexmedetomidine Injection 0.5ug/kg
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 Involvement of Transverso-sacral- Neo- Articulations or of Transverso-iliac Articulations in Chronic Lumbago: Prospective Multicentric , Double-Blinded, Randomized of the Efficacy of corticoïd Infiltration Versus Physiological Solution Infiltration Terminated NCT01206699 Phase 4 corticoid (altim® 1.5 ml);physiological solution (1.5 ml)
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 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
27 Incidence and Severity of Parenteral Nutrition Associated Cholestasis in Neonates Subjected to Major Surgery, Using Two Mixed Intravenous Lipid Emulsions Terminated NCT02633384 Phase 4
28 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
29 CLP 7463: Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Withdrawn NCT02079818 Phase 4
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 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
33 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
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 Prospective Randomized Study of Duragen vs. Duraguard in Chiari Surgery Completed NCT00741858 Phase 3
40 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
41 Clinical Study on Efficacy and Safety of the mTor Rapamycin Inhibitor Found in the Complex Vascular Malformations Completed NCT01811667 Phase 3 Sirolimus
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 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
44 Evaluation of Effects of Additional Fentanyl to Epidural Bupivacaine for Post-Thoracotomy Pain in Neonates on Perioperative Outcome Completed NCT00286143 Phase 3 Fentanyl
45 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
46 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
47 Identifying Determinants and Optimizing Rehabilitation of Physical Activity for Children After the Fontan Procedure Completed NCT00363363 Phase 3
48 Trial of Right Ventricular Versus Modified Blalock-Taussig Shunt in Infants With Single Ventricle Defect Undergoing Staged Reconstruction (A Trial Conducted by the Pediatric Heart Network) Completed NCT00115934 Phase 3
49 Trial of ACE Inhibition in Infants With Single Ventricle (A Trial Conducted by the Pediatric Heart Network) Completed NCT00113087 Phase 3 Enalapril;Placebo
50 A Randomized Trial of Unruptured Brain Arteriovenous Malformations Completed NCT00389181 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:

41
Heart, Brain, Bone, Breast, Testes, Olfactory Bulb, Eye

Publications for Acromelic Frontonasal Dysostosis

Articles related to Acromelic Frontonasal Dysostosis:

(show all 48)
# Title Authors PMID Year
1
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. 38 8 71
26706854 2016
2
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. 38 8 71
25105228 2014
3
Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance. 38 8
15264282 2004
4
Acromelic frontonasal dysostosis. 38 8
10190481 1999
5
Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. 8
19400543 2009
6
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? 8
8357003 1993
7
Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). 8
1733166 1992
8
Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective. 8
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? 8
6627724 1983
10
Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling. 8
4767905 1973
11
Median cleft face syndrome. 8
5571207 1971
12
Ocular hypertelorism and nasal agenesis (midface syndrome) with limb anomalies. 8
5173220 1971
13
Frontonasal dysplasia. 8
5444583 1970
14
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. 38
30836128 2019
15
Experiential avoidance in adolescents with borderline personality disorder: comparison with a non-BPD psychiatric group and healthy controls. 38
31185829 2019
16
Sequence-based HLA-A, B, C, DP, DQ, and DR typing of 496 adults from San Diego, California, USA. 38
30278218 2018
17
Cytokine gene polymorphisms in Iraqi Arabs. 38
29288696 2018
18
Allele Frequency Net Database. 38
29858801 2018
19
Antegrade versus retrograde facial nerve dissection in benign parotid surgery: Is there a difference in postoperative outcomes? A meta-analysis. 38
30339679 2018
20
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. 38
29198722 2017
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Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation. 38
28433741 2017
22
Cytokine gene polymorphisms in populations from Parana, Southern Brazil. 38
28347702 2017
23
Allele and genotype frequencies of polymorphisms in cytokine genes in ethnic Russian individuals from Moscow, Russia. 38
27888067 2017
24
HLA-A, -B, -C, -DRB1 and -DQB1 alleles and haplotypes in 951 Southeast Asia Malays from Peninsular Malaysia. 38
27370684 2016
25
HLA-DRB1, -DQA1 and -DQB1 genotyping of 180 Czech individuals from the Czech Republic pop 3. 38
26867812 2016
26
Distribution of cytokine gene polymorphisms in six Orang Asli subgroups in Peninsular Malaysia. 38
26820937 2016
27
Allele Frequencies Net Database: Improvements for storage of individual genotypes and analysis of existing data. 38
26585775 2016
28
A web resource for mining HLA associations with adverse drug reactions: HLA-ADR. 38
27189608 2016
29
HLA-A, -B, -C, and -DRB1 genotyping of 1000 Northern Irish individuals from Belfast, Northern Ireland in the United Kingdom. 38
25797202 2015
30
Allele frequency net 2015 update: new features for HLA epitopes, KIR and disease and HLA adverse drug reaction associations. 38
25414323 2015
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16(th) IHIW: extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles. 38
23198982 2013
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A database for curating the associations between killer cell immunoglobulin-like receptors and diseases in worldwide populations. 38
23584834 2013
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Autoimmune clustering: sweet syndrome, Hashimoto thyroiditis, and psoriasis. 38
21325961 2011
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Relevance of cerebral interleukin-6 after aneurysmal subarachnoid hemorrhage. 38
20725805 2010
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Impact of hyperglycemia on neurological deficits and extracellular glucose levels in aneurysmal subarachnoid hemorrhage patients. 38
18173901 2007
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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. 38
12750537 2003
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Schiff base chemistry of the rhenium(V)-oxo core with '3+2' ligand donor sets. 38
20628543 2001
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[Acromelic frontonasal dysostosis]. 38
11462369 2001
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Bronchial manifestation of acute febrile neutrophilic dermatosis (Sweet's syndrome). 38
9623707 1998
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Neutrophilic dermal infiltrates in granulocytopenic patients with acute leukemia. 38
7492629 1995
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Sweet's syndrome associated with Salmonella typhimurium infection. 38
1676226 1991
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Sweet's syndrome and chronic lymphocytic leukemia associated with scirrhous breast cancer. A case report. 38
2162801 1990
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Acute febrile neutrophilic dermatosis (Sweet's syndrome) in association with myelodysplastic syndromes: a report of three cases and a review of the literature. 38
2679862 1989
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Acute febrile neutrophilic dermatosis. A histopathological study of 37 patients and a review of the literature. 38
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Neutrophilic dermatosis and myelodysplastic syndrome. 38
3436797 1987
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Acute febrile neutrophilic dermatosis (Sweet's syndrome) following BCG vaccination. 38
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Relapsing acute febrile neutrophilic dermatosis and essential thrombocythemia. 38
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Acute febrile neutrophilic dermatosis. Sweet's syndrome. 38
7283460 1981

Variations for Acromelic Frontonasal Dysostosis

ClinVar genetic disease variations for Acromelic Frontonasal Dysostosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZSWIM6 NM_020928.2(ZSWIM6): c.3487C> T (p.Arg1163Trp) single nucleotide variant Pathogenic/Likely pathogenic rs587777695 5:60839983-60839983 5:61544156-61544156
2 ZSWIM6 NM_020928.2(ZSWIM6): c.440_454del (p.Ala147_Gly151del) deletion Uncertain significance rs772099709 5:60628539-60628553 5:61332712-61332726
3 ZSWIM6 NM_020928.2(ZSWIM6): c.1906G> A (p.Val636Met) single nucleotide variant not provided 5:60825947-60825947 5:61530120-61530120

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

74
# 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 Chromosom 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

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

# Name GO ID Score Top Affiliating Genes
1 pattern specification process GO:0007389 9.16 SHH ALX3
2 embryonic forelimb morphogenesis GO:0035115 8.96 SHH ALX3
3 embryonic hindlimb morphogenesis GO:0035116 8.62 SHH ALX3

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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