AFND
MCID: ACR041
MIFTS: 53

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 20 58 72 36 29 6 44 15 70
Afnd 57 20 58 72
Acromelic Frontonasal Dysplasia 58 70
Dysostosis, Acromelic Frontonasal 39
Congenital Abnormalities 44
Toriello Syndrome 58
Sweet Syndrome 70

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®:

57 (Updated 05-Apr-2021)
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

UniProtKB/Swiss-Prot : 72 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 neutrophilic dermatosis, acute febrile, and has symptoms including seizures An important gene associated with Acromelic Frontonasal Dysostosis is ZSWIM6 (Zinc Finger SWIM-Type Containing 6). The drugs Sodium Tetradecyl Sulfate and Sodium sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and breast, and related phenotypes are intellectual disability 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.

GARD : 20 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.

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) (Updated 05-Apr-2021)

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.

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 443)
# Related Disease Score Top Affiliating Genes
1 kapur-toriello syndrome 11.7
2 neutrophilic dermatosis, acute febrile 11.3
3 sacral hemangiomas multiple congenital abnormalities 11.1
4 mosaic variegated aneuploidy syndrome 1 10.9
5 cryptorchidism, unilateral or bilateral 10.8
6 legg-calve-perthes disease 10.8
7 velocardiofacial syndrome 10.8
8 duodenal atresia 10.8
9 tracheomalacia 10.8
10 hereditary lymphedema i 10.8
11 t-cell immunodeficiency with thymic aplasia 10.7
12 pseudotrisomy 13 syndrome 10.7
13 simpson-golabi-behmel syndrome, type 1 10.7
14 phace association 10.7
15 avascular necrosis of femoral head, primary, 1 10.7
16 encephalocraniocutaneous lipomatosis 10.7
17 mosaic variegated aneuploidy syndrome 2 10.7
18 schuurs-hoeijmakers syndrome 10.7
19 you-hoover-fong syndrome 10.7
20 thauvin-robinet-faivre syndrome 10.7
21 gabriele-de vries syndrome 10.7
22 mosaic variegated aneuploidy syndrome 3 10.7
23 hereditary lymphedema 10.7
24 chromosome 10q23 deletion syndrome 10.7
25 limb-body wall complex 10.7
26 pituitary stalk interruption syndrome 10.7
27 dysostosis 10.6
28 polydactyly 10.4
29 neural tube defects 10.4
30 frontonasal dysplasia 1 10.4
31 lipomatosis, multiple 10.4
32 pleomorphic lipoma 10.4
33 down syndrome 10.3
34 cleft palate, isolated 10.2
35 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
36 hypertelorism 10.2
37 telecanthus 10.2
38 tibial hemimelia 10.2
39 alacrima, achalasia, and mental retardation syndrome 10.2
40 autosomal recessive disease 10.2
41 clubfoot 10.2
42 encephalocele 10.2
43 hemimelia 10.2
44 cleft lip 10.2
45 cleft lip/palate 10.2
46 microcephaly 10.2
47 chromosomal triplication 10.2
48 acrocallosal syndrome 10.2
49 corpus callosum, agenesis of 10.2
50 meningocele 10.2

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 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
6 thick nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0009928
7 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
8 meningocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002435
9 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
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 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
25 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
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 seizures 58 Occasional (29-5%)
41 wide nasal bridge 31 HP:0000431
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 onychogryposis 31 HP:0001805
48 midline defect of the nose 31 HP:0004122
49 polydactyly 31 HP:0010442
50 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
encephalocele
choroid plexus cyst
retrocerebellar cyst
more
Head And Neck Nose:
wide nasal bridge
broad nasal tip
bifid nasal tip
bifid nose
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)

Head And Neck Eyes:
hypertelorism
telecanthus
downslanting palpebral fissures
myopia (in some patients)
glaucoma (rare)
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 (Updated 05-Apr-2021)

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 378)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Tetradecyl Sulfate Approved, Investigational Phase 4 1191-50-0, 139-88-8 5248 14492
2
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
3
Bleomycin Approved, Investigational Phase 4 11056-06-7 5360373
4
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
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
Misoprostol Approved Phase 4 59122-46-2 5282381
10
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
11
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
12
Zidovudine Approved Phase 4 30516-87-1 35370
13
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
14
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
15
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
16
Rilpivirine Approved Phase 4 500287-72-9 6451164
17
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
18
Cobicistat Approved Phase 4 1004316-88-4
19
Dolutegravir Approved Phase 4 1051375-16-6 54726191
20
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
21
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
22
Denosumab Approved Phase 4 615258-40-7
23
Clonidine Approved Phase 4 4205-90-7 2803
24
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
25
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
26
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
27 Liver Extracts Phase 4
28 Respiratory System Agents Phase 4
29 Sclerosing Solutions Phase 4
30 Antidotes Phase 4
31 Expectorants Phase 4
32 N-monoacetylcystine Phase 4
33 Picibanil Phase 4
34 Calamus Phase 4
35 Cytochrome P-450 Enzyme Inhibitors Phase 4
36 Anti-Infective Agents Phase 4
37 Antimetabolites Phase 4
38 Anesthetics, Local Phase 4
39 Anti-Retroviral Agents Phase 4
40 Antiviral Agents Phase 4
41 Lamivudine, zidovudine drug combination Phase 4
42 Analgesics, Non-Narcotic Phase 4
43 Hypnotics and Sedatives Phase 4
44 Sodium Channel Blockers Phase 4
45 Antibodies Phase 4
46 Immunoglobulins Phase 4
47
protease inhibitors Phase 4
48 HIV Protease Inhibitors Phase 4
49 Cytochrome P-450 CYP3A Inhibitors Phase 4
50 Anti-HIV Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 708)
# Name Status NCT ID Phase Drugs
1 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
2 Compare the Effect of Bleomycin and Tetradecyl Sodium Sulphate in the Treatment of Venous Malformations Unknown status NCT01347294 Phase 4 Bleomycin;Fibrovein;Bleomycin + Fibrovein
3 The Impact of N-Acetylcysteine on Volumetric Retention of Autologous Fat Graft for Breast Asymmetry Correction Unknown status NCT03197103 Phase 4 N-Acetylcysteine (NAC)
4 the Safety and Effect in TB Patients With NAC Unknown status NCT02889757 Phase 4 Acteylcysteine
5 SIGnificance of Routine Hysteroscopy Prior to a First 'in Vitro Fertilization'(IVF) Treatment Cycle Completed NCT01242852 Phase 4
6 The Ontario Multidetector Computed Tomography (MDCT) Coronary Angiography Study (OMCAS) Completed NCT00371891 Phase 4
7 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])
8 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
9 NASHA/Dx as a Perianal Implant for the Treatment of Persistent Fecal Incontience After Anorectal Malformation Completed NCT03746834 Phase 4
10 Dilapan vs Misoprostol for Cervical Ripening [COMRED - Comparison of Misoprostol Ripening Efficacy With Dilapan] Completed NCT03670836 Phase 4 Misoprostol
11 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
12 Feasibility Study Over the Neurally Adjusted Ventilatory Assist (NAVA) Mode in Noninvasive Ventilation After Cardiac Surgery in Infants. Completed NCT01570933 Phase 4
13 Efficacy and Satisfaction Comparing Two Braces in the Treatment of DDH in Infants: A Randomized Clinical Trial Completed NCT01375218 Phase 4
14 OK432 (Picibanil) in the Treatment of Lymphatic Malformations Completed NCT03427619 Phase 4 OK432
15 Epidural Analgesia and Troubles of Fetal Cardiaq Rythm : Effect of the Systemic Transfer of Ropivacaine and Sufentanil Completed NCT01686347 Phase 4 ropivacaine
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 Comparison of Analgesic Efficacy of Two Different Doses of Dexmedetomidine as Adjuncts to Lidocaine for Intravenous Regional Anesthesia: Randomized Clinical Trial. Recruiting NCT03399474 Phase 4 Lidocaine Hydrochloride 2%;Dexmedetomidine 0.5 ug/kg;Dexmedetomidine Injection 0.25 ug/kg
18 Contribution of the Integrase Inhibitor Dolutegravir to Obesity and Cardiovascular Disease in Persons Living With HIV Recruiting NCT04340388 Phase 4 Dolutegravir 50 MG;Antiretroviral/Anti HIV
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 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 Clonidine for Tourniquet-related Pain in Children: A Pilot Study Not yet recruiting NCT04564430 Phase 4 Catapresan
23 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
24 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
25 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
26 Rejuvenated, Washed Packed Red Blood Cells in Pediatric Cardiac Surgery Withdrawn NCT02485366 Phase 4 Rejuvesol
27 A Randomized Trial Investigating the Effect of Tranexamic Acid on Platelet Aggregation Following Infant Cardiopulmonary Bypass Withdrawn NCT02122679 Phase 4 Tranexamic Acid;placebo
28 CLP 7463: Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Withdrawn NCT02079818 Phase 4
29 The Use of Gastrografin to Help Alleviate Bowel Obstruction Related to Poor Bowel Motility in Gastroschisis Patients. Withdrawn NCT03334578 Phase 4 Gastrografin
30 Surgical Treatment of Spinal Deformity With Sagittal Imbalance Using Patient-specific Rods: A Multicenter, Controlled, Double- Blind Randomized Trial: The PROFILE Study Unknown status NCT02730507 Phase 3
31 Investigation of the Effect of a Customized Nasal Brace on Nasal Deformities With or Without Prior Surgery Unknown status NCT02348931 Phase 3
32 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
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 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
35 Routine Versus Selective Midtrimester Ultrasound in a Poorly Resourced Setting: a Cluster Randomised Controlled Trial Completed NCT00204139 Phase 3
36 Treatment of Cystic Hygroma (Lymphangiomas) in Children- Picibanil(OK432) Sclerotherapy-Multicenter Trial Completed NCT00010452 Phase 2, Phase 3 picibanil
37 A Randomized Trial of Unruptured Brain Arteriovenous Malformations Completed NCT00389181 Phase 3
38 A Phase III Single-Blind, Randomized, Placebo Controlled, Clinical Trial to Determine the Safety and Efficacy of Intravenous L-Citrulline Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT00335244 Phase 3 L-citrulline;Placebo of intravenous L-citrulline
39 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
40 Management of Patent Ductus in Premature Infants Completed NCT00000494 Phase 3 indomethacin
41 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
42 Identifying Determinants and Optimizing Rehabilitation of Physical Activity for Children After the Fontan Procedure Completed NCT00363363 Phase 3
43 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)
44 Trial of ACE Inhibition in Infants With Single Ventricle (A Trial Conducted by the Pediatric Heart Network) Completed NCT00113087 Phase 3 Enalapril;Placebo
45 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
46 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
47 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, 3-Arm Study of the Efficacy and Safety of 2 Doses of Lenalidomide Versus Placebo in Red Blood Cell (RBC) Transfusion-Dependent Subjects With Low- or Intermediate-1-Risk Myelodysplastic Syndromes Associated With a Deletion (Del) 5q[31] Cytogenetic Abnormality Completed NCT00179621 Phase 3 Lenalidomide 5 mg;Lenalidomide 10 mg;Placebo
48 Triostat in Children During CardioPulmonary Bypass (CPB) Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
49 Hematocrit Strategy in Infant Heart Surgery Completed NCT00006183 Phase 3
50 Clinical Study on Efficacy and Safety of the mTor Rapamycin Inhibitor Found in the Complex Vascular Malformations Completed NCT01811667 Phase 3 Sirolimus

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
Bone, Brain, Breast, Thymus, Liver, Skin, Heart

Publications for Acromelic Frontonasal Dysostosis

Articles related to Acromelic Frontonasal Dysostosis:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. 6 57 61
26706854 2016
2
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. 61 57 6
25105228 2014
3
Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance. 57 61
15264282 2004
4
Acromelic frontonasal dysostosis. 57 61
10190481 1999
5
Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. 57
19400543 2009
6
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? 57
8357003 1993
7
Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). 57
1733166 1992
8
Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective. 57
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? 57
6627724 1983
10
Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling. 57
4767905 1973
11
Median cleft face syndrome. 57
5571207 1971
12
Ocular hypertelorism and nasal agenesis (midface syndrome) with limb anomalies. 57
5173220 1971
13
Frontonasal dysplasia. 57
5444583 1970
14
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis. 61
33776626 2021
15
NGS-based typings for 7 HLA loci in two populations from Barra Mansa, RJ, Brazil. 61
33257011 2021
16
NGS-based typings for 7 HLA loci in three populations from Rio de Janeiro, RJ, Brazil. 61
33267971 2021
17
A snapshot of human leukocyte antigen (HLA) diversity using data from the Allele Frequency Net Database. 61
33755549 2020
18
HLA-A, -B, and -DRB1 genotyping and haplotype frequencies among Filipinos living in the National Capital Region of the Philippines. 61
32571529 2020
19
HLA-A, -B, -C, -DRB1 and -DQB1 alleles and haplotypes in 271 Southeast Asia Indians from Peninsular Malaysia. 61
32312605 2020
20
A case of likely acute febrile neutrophilic dermatosis in a 17-year-old male presenting to general paediatrics. 61
32532901 2020
21
HLA-A, -B, -DRB1 and -DQB1 polymorphisms among Iraqi Arabs. 61
32223986 2020
22
Experiential avoidance in adolescents with borderline personality disorder: comparison with a non-BPD psychiatric group and healthy controls. 61
31185829 2020
23
Next generation HLA typing and haplotypes by descent in Gaza individuals. 61
31787347 2020
24
Allele frequency net database (AFND) 2020 update: gold-standard data classification, open access genotype data and new query tools. 61
31722398 2020
25
The 27th annual Nucleic Acids Research database issue and molecular biology database collection. 61
31906604 2020
26
HLA-A, -B, -C, -DRB1 and -DQB1 alleles and haplotypes in 194 Southeast Asia Chinese from Peninsular Malaysia. 61
31558331 2019
27
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
28
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
31
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
29198722 2017
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Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation. 61
28433741 2017
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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
27888067 2017
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HLA-A, -B, -C, -DRB1 and -DQB1 alleles and haplotypes in 951 Southeast Asia Malays from Peninsular Malaysia. 61
27370684 2016
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Distribution of cytokine gene polymorphisms in six Orang Asli subgroups in Peninsular Malaysia. 61
26820937 2016
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HLA-DRB1, -DQA1 and -DQB1 genotyping of 180 Czech individuals from the Czech Republic pop 3. 61
26867812 2016
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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
27189608 2016
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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
25797202 2015
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Allele frequency net 2015 update: new features for HLA epitopes, KIR and disease and HLA adverse drug reaction associations. 61
25414323 2015
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16(th) IHIW: extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles. 61
23198982 2013
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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
21325961 2011
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Relevance of cerebral interleukin-6 after aneurysmal subarachnoid hemorrhage. 61
20725805 2010
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Impact of hyperglycemia on neurological deficits and extracellular glucose levels in aneurysmal subarachnoid hemorrhage patients. 61
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. 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
11462369 2001

Variations for Acromelic Frontonasal Dysostosis

ClinVar genetic disease variations for Acromelic Frontonasal Dysostosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZSWIM6 NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) SNV Pathogenic/Likely pathogenic 155772 rs587777695 GRCh37: 5:60839983-60839983
GRCh38: 5:61544156-61544156
2 ZSWIM6 NM_020928.2(ZSWIM6):c.1446T>G (p.Asp482Glu) SNV Uncertain significance 1029794 GRCh37: 5:60817202-60817202
GRCh38: 5:61521375-61521375
3 ZSWIM6 NM_020928.2(ZSWIM6):c.2281C>T (p.Arg761Trp) SNV Uncertain significance 1029795 GRCh37: 5:60831346-60831346
GRCh38: 5:61535519-61535519
4 ZSWIM6 NM_020928.2(ZSWIM6):c.1991T>C (p.Met664Thr) SNV Uncertain significance 1033558 GRCh37: 5:60827298-60827298
GRCh38: 5:61531471-61531471
5 ZSWIM6 NM_020928.2(ZSWIM6):c.683A>G (p.His228Arg) SNV Uncertain significance 1033559 GRCh37: 5:60768514-60768514
GRCh38: 5:61472687-61472687
6 ZSWIM6 NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del) Deletion Uncertain significance 548607 rs772099709 GRCh37: 5:60628526-60628540
GRCh38: 5:61332699-61332713
7 ZSWIM6 NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup) Microsatellite Uncertain significance 931663 GRCh37: 5:60628249-60628250
GRCh38: 5:61332422-61332423
8 ZSWIM6 NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met) SNV not provided 585031 rs140760439 GRCh37: 5:60825947-60825947
GRCh38: 5:61530120-61530120

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

72
# 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 metal ion binding GO:0046872 9.5 ZSWIM8 ZSWIM6 ZSWIM5 ZSWIM4 ZSWIM2 POGZ
2 zinc ion binding GO:0008270 9.02 ZSWIM8 ZSWIM6 ZSWIM5 ZSWIM4 ZSWIM2

Sources for Acromelic Frontonasal Dysostosis

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