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ADULT SYNDROME
MCID: ADL002
MIFTS: 62

Adult Syndrome (ADULT SYNDROME)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Adult Syndrome

About this section

MalaCards integrated aliases for Adult Syndrome:

Name: Adult Syndrome 57 12 75 53 59 74 37 29 13 55 6 15 72
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 57 12 53 59 74
Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome 59
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 29
Acro Dermato Ungual Lacrimal Tooth Syndrome 53
Syndrome, Adult 40
Adult 17

Characteristics:

Orphanet epidemiological data:

59
adult syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult is an acronym for acro-dermato-ungual-lacrimal-tooth
allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, )
allelic disorder to limb-mammary syndrome (lms, )
allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, )
allelic disorder to rapp-hodgkin syndrome (rhs, )
allelic disorder to split-hand/foot malformation 4 (shfm4, )


HPO:

32
adult syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Skin diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0050601
OMIM 57 103285
KEGG 37 H00641
MeSH 44 D004476
MESH via Orphanet 45 C538052
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 73 C1863204
Orphanet 59 ORPHA978
MedGen 42 C1863204
UMLS 72 C1863204
Sources

Summaries for Adult Syndrome

About this section
UniProtKB/Swiss-Prot : 74 Acro-dermato-ungual-lacrimal-tooth syndrome: A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant.

MalaCards based summary : Adult Syndrome, also known as acro-dermato-ungual-lacrimal-tooth syndrome, is related to beckwith-wiedemann syndrome and hypertension, essential, and has symptoms including dry skin An important gene associated with Adult Syndrome is TP63 (Tumor Protein P63), and among its related pathways/superpathways are FOXA2 and FOXA3 transcription factor networks and Insulin Pathway. The drugs Diclofenac and Cyproheptadine have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and myeloid, and related phenotypes are finger syndactyly and dry skin

Disease Ontology : 12 An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has material basis in a mutation in TP63.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 978DefinitionA rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.Visit the Orphanet disease page for more resources.

KEGG : 37
ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of lacrimal ducts, and hypodontia. ADULT syndrome differs from EEC syndrome, an allelic disorder, by the absence of facial clefting.

Wikipedia : 75 Acro-dermato-ungual-lacrimal-tooth syndrome is a rare genetic disease. ADULT syndrome is an autosomal... more...

More information from OMIM: 103285
Sources

Related Diseases for Adult Syndrome

About this section

Diseases related to Adult Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 6406)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome 31.8 PHLDA2 INS IGF2
2 hypertension, essential 31.3 NR3C1 INS HSD11B2
3 osteochondrosis 30.6 NR3C1 IGF2
4 hypoglycemic coma 29.9 INS IGF2
5 chromosome 2q35 duplication syndrome 29.6 TP63 BHLHA9
6 fetal macrosomia 29.5 INS IGF2
7 islet cell tumor 29.4 INS IGF2
8 insulinomatosis and diabetes mellitus 29.4 INS IGF2
9 adrenal gland disease 29.3 NR3C1 HSD11B2
10 hyperaldosteronism, familial, type i 29.2 NR3C1 HSD11B2
11 split hand-foot malformation 29.1 TP63 BHLHA9
12 leukodystrophy, demyelinating, adult-onset, autosomal dominant 12.5
13 citrullinemia, type ii, adult-onset 12.4
14 epilepsy, familial adult myoclonic, 2 12.4
15 neutropenia, nonimmune chronic idiopathic, of adults 12.4
16 hypophosphatasia, adult 12.4
17 cataract 13 with adult i phenotype 12.4
18 epilepsy, familial adult myoclonic, 1 12.4
19 polyglucosan body neuropathy, adult form 12.4
20 benign adult familial myoclonic epilepsy 12.4
21 epilepsy, familial adult myoclonic, 6 12.4
22 epilepsy, familial adult myoclonic, 7 12.4
23 lactose intolerance, adult type 12.3
24 cystinosis, adult nonnephropathic 12.3
25 adult acute monocytic leukemia 12.3
26 adult endodermal sinus tumor 12.3
27 adult-onset nemaline myopathy 12.3
28 adult teratoma 12.3
29 epilepsy, familial adult myoclonic, 5 12.3
30 adult cystic teratoma 12.2
31 b-cell adult acute lymphocytic leukemia 12.2
32 primary lateral sclerosis, adult, 1 12.2
33 adult acute lymphocytic leukemia 12.2
34 t-cell adult acute lymphocytic leukemia 12.2
35 adult botryoid rhabdomyosarcoma 12.2
36 autosomal dominant adult-onset proximal spinal muscular atrophy 12.2
37 adult hepatocellular carcinoma 12.2
38 adult oligodendroglioma 12.2
39 adult medulloblastoma 12.2
40 adult central nervous system choriocarcinoma 12.2
41 adult central nervous system embryonal carcinoma 12.2
42 epilepsy, familial adult myoclonic, 3 12.2
43 epilepsy, familial adult myoclonic, 4 12.2
44 adult dermatomyositis 12.2
45 macular dystrophy, vitelliform, 3 12.2
46 adult astrocytic tumour 12.2
47 adult malignant schwannoma 12.2
48 adult intestinal botulism 12.2
49 reducing body myopathy, x-linked 1b, with late childhood or adult onset 12.1
50 adult mesenchymal chondrosarcoma 12.1

Graphical network of the top 20 diseases related to Adult Syndrome:



Diseases related to Adult Syndrome
Sources

Symptoms & Phenotypes for Adult Syndrome

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Human phenotypes related to Adult Syndrome:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
2 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
3 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
4 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
5 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
6 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
7 nasolacrimal duct obstruction 59 32 hallmark (90%) Very frequent (99-80%) HP:0000579
8 freckling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001480
9 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
10 fingernail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100798
11 nail pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0001803
12 toenail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100797
13 split foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001839
14 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
15 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
16 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
17 hypoplastic nipples 59 32 frequent (33%) Frequent (79-30%) HP:0002557
18 breast hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0003187
19 absent nipple 59 32 frequent (33%) Frequent (79-30%) HP:0002561
20 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
21 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
22 abnormality of the dentition 59 Very frequent (99-80%)
23 abnormality of the nail 59 Very frequent (99-80%)
24 cutaneous photosensitivity 32 HP:0000992
25 microdontia 32 HP:0000691
26 wide intermamillary distance 32 HP:0006610
27 abnormality of the face 59 Occasional (29-5%)
28 conjunctivitis 32 HP:0000509
29 split hand 32 HP:0001171
30 eczema 32 HP:0000964
31 hypodontia 32 HP:0000668
32 oral cleft 32 HP:0000202
33 sparse axillary hair 32 HP:0002215
34 oligodontia 32 HP:0000677
35 ectodermal dysplasia 32 HP:0000968
36 dermal atrophy 32 HP:0004334
37 alopecia of scalp 32 HP:0002293
38 fair hair 32 HP:0002286
39 adermatoglyphia 32 HP:0007455
40 premature loss of permanent teeth 32 HP:0006357

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
dry skin
thin skin
freckling
ectodermal dysplasia
adermatoglyphia
more
Head And Neck Teeth:
hypodontia
oligodontia
small teeth
dysplastic teeth
premature loss of secondary teeth (<25 years)

Skeletal Hands:
ectrodactyly
syndactyly

Skin Nails Hair Nails:
nail pits
dysplastic nails

Head And Neck Eyes:
conjunctivitis
lacrimal duct obstruction

Chest Breasts:
hypoplastic nipples
breast hypoplasia
mammary gland hypoplasia
widely spaced nipples
absent nipples

Skeletal Feet:
ectrodactyly
syndactyly

Skin Nails Hair Hair:
sparse axillary hair
blond hair
thin scalp hair
premature scalp hair loss (>30 years)

Clinical features from OMIM:

103285

UMLS symptoms related to Adult Syndrome:


dry skin

MGI Mouse Phenotypes related to Adult Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 ALG2 BHLHA9 GRB10 HSD11B2 IFT80 IGF2
2 muscle MP:0005369 9.43 GRB10 HSD11B2 IGF2 INS NR3C1 TP63
3 renal/urinary system MP:0005367 9.1 HSD11B2 IFT80 IGF2 INS NR3C1 TP63
Sources

Drugs & Therapeutics for Adult Syndrome

About this section

Drugs for Adult Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1750)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Cyproheptadine Approved Phase 4 129-03-3 2913
3
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
4
Colistin Approved Phase 4 1264-72-8, 1066-17-7 5311054
5
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
6
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
7
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
8
Neomycin Approved, Vet_approved Phase 4 1404-04-2 8378
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
10
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
11
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
12
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
13
Metformin Approved Phase 4 657-24-9 4091 14219
14
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
15
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
16
Pentetic acid Approved Phase 4 67-43-6
17
Edetic Acid Approved, Vet_approved Phase 4 60-00-4, 62-33-9 6049
18
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
19
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
20
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
21
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
22
Simvastatin Approved Phase 4 79902-63-9 54454
23
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
24
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
25
Phenylephrine Approved Phase 4 59-42-7 6041
26
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
27
Norepinephrine Approved Phase 4 51-41-2 439260
28
Ipratropium Approved, Experimental Phase 4 60205-81-4, 22254-24-6 657309 43232
29
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
30 Orange Approved Phase 4
31
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
32
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 17753757 6447131
33
Amlodipine Approved Phase 4 88150-42-9 2162
34
Cetirizine Approved Phase 4 83881-51-0 2678
35
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
36
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
37
Cladribine Approved, Investigational Phase 4 4291-63-8 20279
38
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
39
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
40
Montelukast Approved Phase 4 158966-92-8 5281040
41
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
42
Ezetimibe Approved Phase 4 163222-33-1 150311
43
Bisacodyl Approved Phase 4 603-50-9
44
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
45
Mirabegron Approved Phase 4 223673-61-8 9865528
46
Memantine Approved, Investigational Phase 4 19982-08-2 4054
47
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
48
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
49
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
50
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Efficacy Evaluation of Surfactant Administration for Respiratory Distress Syndrome Treatment Via Laryngeal Mask Airway. A Randomized Controlled Trial Unknown status NCT01173237 Phase 4
2 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
3 Propofol and Remifentanil Versus Midazolam and Remifentanil as Premedication Allowing Very Early Extubation After Surfactant Treatment in Preterm Neonates With Respiratory Distress Syndrome Unknown status NCT00797160 Phase 4 propofol
4 Assessment of the Cerebral Tissue Oxygenation and the Bioelectrical Brain Activity of Preterm Newborns During Administration of Two Different Surfactant Unknown status NCT01941524 Phase 4 Poractant alfa instillation;Beractant instillation
5 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
6 Functional Residual Capacity Guided Alveolar Recruitment Strategy in Patients With Acute Respiratory Failure After Cardiac Surgery Unknown status NCT01280019 Phase 4
7 Comparative Trial of Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4 Surfactant
8 Effects of NMBA on the Alteration of Transpulmonary Pressures at the Early Phase of ARDS Unknown status NCT01573715 Phase 4 NIMBEX;NIMBEX
9 THE EFFECT OF SUSTAINED LUNG INFLATION MANEUVER APPLIED THROUGH NASAL PRONG ON EARLY AND LATE RESPIRATORY MORBIDITIES IN PRETERM INFANTS Unknown status NCT02887924 Phase 4
10 Impact of Fluid Resuscitation Therapy on Pulmonary Edema as Measured by Alveolar Fluid Clearance in Patients With Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT01763853 Phase 4 4% albumin
11 Non-Invasive Positive Pressure Mask Ventilation vs Extrathoracic Biphasic Cuirass Ventilation in Patients With Acute Respiratory Failure: A Randomized Prospective Study. Unknown status NCT00331656 Phase 4
12 Prevention of Chronic Lung Disease (CLD) in Preterm Infants -A New Therapeutic Regimen Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
13 A Multicentre, Randomized, Clinical Trial of Noninvasive Ventilation: Neurally Adjusted Ventilatory Assist (NAVA) vs. Pressure Support in Pediatric Acute Respiratory Failure - NINAVAPed Protocol Unknown status NCT01873521 Phase 4
14 Does Clinical Response Correlate With Serum Certolizumab Levels? A Prospective Open Label Trial of Adult Patients With Active Crohn's Disease (APOLLO) Unknown status NCT02597829 Phase 4 Certolizumab Pegol
15 A Placebo-Controlled, Double-Blind, Cross-Over Study With Rupatadine 10 Mg in 30 Mosquito-Bite Allergic Adult Subjects Unknown status NCT00258141 Phase 4 Rupatadine;Placebo
16 Efficacy and Safety of Intranasal Ketorolac Tromethamine (SPRIX) as a Short Term Pain Management Tool for Adult Male Patients With Post-Vasectomy Pain Unknown status NCT02000388 Phase 4 Ketorolac Tromethamine
17 German Multicenter Study for Treatment Optimisation in Acute Lymphoblastic Leukemia in Adults and Adolescents Above 15 Years (Amend 3) (GMALL 07/2003) Unknown status NCT00198991 Phase 4 Cyclophosphamide;Dexamethasone;Vincristine;daunorubicin;Asparaginase;Methotrexate;Cytarabine;Mercaptopurine;G-CSF;Vindesine;VP16;Prednisolone;Adriamycin;Thioguanine;VM26;Idarubicin;Fludarabine;Cladribine
18 AN OPEN STUDY OF LAMIVUDINE TREATMENT IN ADULT HBeAg NEGATIVE (Presumed Pre-Core Mutant) CHRONIC HEPATITIS B PATIENTS IN IRAN. Unknown status NCT00354653 Phase 4 LAMIVUDINE
19 Use Of High Dose Colistin in Multi Drug Resistant Gram Negative Infections in Critically Ill Adult Patients. Randomized Controlled Clinical Trial Unknown status NCT02162966 Phase 4 High Dose Colistin;Standard Dose Colistin
20 N-acetylcysteine for the Treatment of Cannabis Dependence: Working Mechanisms Unknown status NCT03221231 Phase 4 N-acetylcysteine;Placebo Oral Tablet
21 A Randomized, Parallel, Double-blind, Placebo-controlled, Pilot Clinical Study on the Effects of Yunzhi as Dietary Supplement in 60 Adult Patients Undergoing Adjuvant/Neoadjuvant Chemotherapy for Breast Cancer. Unknown status NCT00647075 Phase 4
22 Safety and Immunogenicity of Adult Formulation Tetanus and Diphtheria Toxoids Adsorbed Combined With Acellular Pertussis (Tdap) Vaccine Following Blood and Morrow Transplantation in Adults Unknown status NCT00336115 Phase 4
23 A Prospective, Multi-Centre, Double-Blind, Randomized, Placebo-Controlled, Trial of Ulinastatin Treatment in Adult Patients With Sepsis and Septic Shock in China Unknown status NCT02647554 Phase 4 ulinastatin;Placebo
24 An Open-label,Multi-center,Prospective Study of Idarubicin and Etoposide Intensified Conditioning Regimen Allogeneic Hematopoietic Stem Cell Transplantation for Adult Acute Lymphoblastic Leukemia Unknown status NCT01873807 Phase 4 IDA;CTX;VP-16
25 A Randomized, Controlled, Single-blind Study of Effects of Enteral Nutrition and Corticosteroid on Intestinal Flora in Induction Remission of Crohn Disease in Adult Unknown status NCT02056418 Phase 4 corticosteroid
26 A Multicenter Study to Evaluate the Effects of Switching to Aripiprazole 12 Weeks on the Sexual Dysfunction From Risperidone or Paliperidone in Patients With Schizophrenia Spectrum Disorders or Bipolar Spectrum Disorders Unknown status NCT01742390 Phase 4 Aripiprazole;risperidone or paliperidone
27 Comparation the Effect of C-LMA and I-gel in Regurgitation and Postoperative Complications Unknown status NCT01876836 Phase 4
28 Multicenter, Phaseâ…£, Open Label Trial of Nilotinib in Adult Patients Diagnosed Philadelphia Chromosome Positive(Ph+) Chronic Myeloid Leukemia in CP/AP Intolerant to Dasatinib Unknown status NCT02389920 Phase 4 Nilotinib
29 Multicenter Study To Optimize Treatment in Elderly Patients (> 55 Years, No Upper Age Limit) With Acute Lymphoblastic Leukemia (GMALL Elderly 1/2003)(Amend 2) Unknown status NCT00198978 Phase 4 Cyclophosphamide;Dexamethasone / Prednisolone;Cytarabine;Idarubicin;Granulocyte-Colony-Stimulating Factor;Mercaptopurine;Methotrexate;Rituximab;HDARAC;Vincristine;Depocyte;Asparaginase
30 Efficacy of Concerta in Treating ADHD in Mothers of Children With ADHD Unknown status NCT00318981 Phase 4 Concerta
31 Identification and Treatment of the Liability to Develop Schizophrenia Unknown status NCT00305474 Phase 4 Risperidone
32 An Randomized and Controlled Study of Hepatic Arterial Infusion of Oxaliplatin and Fluorouracil Treatment of Advanced Primary Liver Cancer After TACE Unknown status NCT02557503 Phase 4 Oxaliplatin and fluorouracil
33 A Randomized, Two-Way Crossover, Single-Dose Pharmacokinetic Study to Evaluate the Bioequivalence of a Test Formulation Compared to an Equivalent Dose of a Reference Drug Product (Nexium Powder for Injection and Infusion 40 mg) in Healthy Adult Subjects Unknown status NCT02444507 Phase 4 Nexium powder for injection and infusion 40 mg;Esomelone Powder for Solution for Injection / Infusion 40 mg
34 Antibiotic Prophylaxis for Percutaneous Endoscopic Gastrostomy (PEG) in Children: a Randomised Controlled Trial. Unknown status NCT01870167 Phase 4 co-amoxiclav
35 The Effect of Ketamine on Production of Inflammatory Markers in Post Operative Patients in Mulago Hospital: A Randomized Clinical Trial Unknown status NCT01339065 Phase 4 Ketamine
36 Reduction of Symptomatic Ventricular Premature Beats With Ranolazine Unknown status NCT01996618 Phase 4 Ranolazine
37 Phase 4 Study of Use of a Customized Acoustic Stimulus to Reduce the Disturbing Symptoms of Tinnitus and Hyperacusis Unknown status NCT00730834 Phase 4
38 Comparative Immunogenicity Study of Two Live Attenuated Hepatitis A Vaccines Unknown status NCT03231605 Phase 4
39 The Effect of Xolair on Inhibiting Leukotriene and Cytokine (IL-4 and IL-13) Release From Blood Basophils Unknown status NCT00673218 Phase 4 Placebo;Xolair
40 Study of the Relationship Between the Rate of Residual Platinum in the Blood and the Incidence of Persistent Neurotoxicity in Patients Treated for Gastrointestinal Cancer With Oxaliplatin Unknown status NCT00274885 Phase 4 oxaliplatin
41 L-selenomethionine Supplementation in Children and Adolescents With Autoimmune Thyroiditis: a Randomized Blind Placebo-controlled Clinical Trial Unknown status NCT02644707 Phase 4
42 An Open-label, Randomized Equivalence Trial and Cost-effectiveness Analysis of Ertapenem Versus Other Carbapenems for Treatment of Extended -Spectrum Beta-Lactamase (ESBL)-Producing Gram-negative Bacterial Infections Unknown status NCT01297842 Phase 4 Ertapenem;Meropenem or Imipenem
43 The Effect of Dexmedetomidine on Microcirculation in Septic Shock- A Double-blinded Study Unknown status NCT02612181 Phase 4 Dexmedetomidine for dexmedetomidine group
44 Effect of the Administration of Etoricoxib on Postoperative Pain and Quality of Recovery in Patients Undergoing Thyroid Surgery Unknown status NCT00935116 Phase 4 etoricoxib
45 Cellular Immunity in Adult Hepatitis B-vaccinated Serologic Non-responders Unknown status NCT01451801 Phase 4
46 Sustained Off-treatment Response After HBeAg Loss in HBeAg-Pos Chronic Hepatitis B Patients Treated With Nucleos(t)Ide Analogues Unknown status NCT01911156 Phase 4 Continue NA treatment;Discontinue NA Treatment
47 A Randomised, Double-blind, Placebo Controlled Trial Evaluating the Effectiveness of a Cranberry Concentrate (CranrichTM) in Preventing Recurrent Urinary Tract Infections in Adult Women Unknown status NCT02454309 Phase 4
48 A Prospective, Multicenter, Placebo Controlled Study on Caffeic Acid Tablet Combining High-dose Dexamethasone in Management of Adult Primary Immune Thrombocytopenia (ITP) Unknown status NCT02556814 Phase 4 Caffeic acid tablets;Dexamethasone;placebo
49 An Open Pilot Study to Evaluate the Efficacy and Safety, Tolerability of Raltegravir（RAL）in Treatment-experienced HIV-1 Infected Adult Chinese Patients Unknown status NCT01201239 Phase 4 raltegravir
50 Whether Dexmedetomidine Can Improve the Prognosis of Elderly Patients With Postoperative Cognitive Dysfunction Unknown status NCT02923128 Phase 4 Dexmedetomidine;Sufentanyl;Saline

Search NIH Clinical Center for Adult Syndrome

Sources

Genetic Tests for Adult Syndrome

About this section

Genetic tests related to Adult Syndrome:

# Genetic test Affiliating Genes
1 Adult Syndrome 29 TP63
2 Acro-Dermato-Ungual-Lacrimal-Tooth (adult) Syndrome 29
Sources

Anatomical Context for Adult Syndrome

About this section

MalaCards organs/tissues related to Adult Syndrome:

41
Lung, Testes, Myeloid, T Cells, B Cells, Bone, Brain
Sources

Publications for Adult Syndrome

About this section

Articles related to Adult Syndrome:

(show top 50) (show all 59)
# Title Authors PMID Year
1
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 9 38 8 71
18603493 2008
2
Further phenotypic and genetic variation in ADULT syndrome. 9 38 8 71
17041931 2006
3
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. 9 38 8 71
16724007 2006
4
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. 9 38 8 71
11929852 2002
5
TP63 gene mutation in ADULT syndrome. 9 38 8 71
11528512 2001
6
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. 38 8 71
19530185 2009
7
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. 38 8 71
16114047 2005
8
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 8 71
11462173 2001
9
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. 38 8
20814947 2010
10
TP63-Related Disorders 38 71
20556892 2010
11
ADULT syndrome allelic to limb mammary syndrome (LMS)? 38 8
10607963 2000
12
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. 38 8
8456838 1993
13
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. 71
21204238 2011
14
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 71
17431922 2007
15
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 71
9443880 1998
16
EEC syndrome and genitourinary anomalies: an update. 71
8737655 1996
17
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome. 9 38
19781362 2009
18
Transcriptional activation of the tumor suppressor and differentiation gene S100A2 by a novel p63-binding site. 9 38
18388131 2008
19
Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression. 9 38
16957482 2006
20
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 9 38
16319531 2006
21
p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly. 9 38
14656652 2004
22
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 9 38
11159940 2001
23
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 38
31420900 2019
24
ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation. 38
30656674 2019
25
ADULT (acro-dermato-ungual-lacrimal-tooth) Syndrome: A Case Report from India. 38
29854643 2018
26
ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature. 38
28690486 2017
27
ADULT syndrome: dental features of a very rare condition. 38
28691455 2017
28
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. 38
28293528 2016
29
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. 38
27469932 2016
30
A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. 38
25983622 2015
31
Shaken adult syndrome: report of 2 cases. 38
24077385 2013
32
Ectodermal dysplasias: the p63 tail. 38
23407076 2013
33
ADULT syndrome due to an R243W mutation in TP63. 38
22607287 2012
34
A newborn with overlapping features of AEC and EEC syndromes. 38
22065614 2011
35
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. 38
21990121 2011
36
Quantitation of brain edema and localisation of aquaporin 4 expression in relation to susceptibility to experimental cerebral malaria. 38
21904632 2011
37
ADULT syndrome caused by a mutation previously associated with EEC syndrome. 38
21078104 2010
38
The retinal dehydrogenase/reductase retSDR1/DHRS3 gene is activated by p53 and p63 but not by mutants derived from tumors or EEC/ADULT malformation syndromes. 38
20543567 2010
39
Regional case studies--Africa. 38
19346766 2009
40
Antisocial behavioral syndromes in cocaine and cannabis dependence. 38
18584570 2008
41
Acro-dermato-ungual-lacrimal-tooth syndrome: case report. 38
17531133 2007
42
Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome. 38
16929068 2006
43
Idiopathic normal pressure hydrocephalus: theoretical concept of a spinal etiology. 38
16520006 2006
44
Androgen excess fetal programming of female reproduction: a developmental aetiology for polycystic ovary syndrome? 38
15941725 2005
45
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. 38
15550149 2004
46
Shaken adult syndrome revisited. 38
12960674 2003
47
P63 gene mutations and human developmental syndromes. 38
12357472 2002
48
Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly. 38
12164578 2002
49
Attention-deficit/hyperactivity disorder: an update. 38
12144081 2002
50
The p63 gene in EEC and other syndromes. 38
12070241 2002
Sources

Variations for Adult Syndrome

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ClinVar genetic disease variations for Adult Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TP63 NM_003722.5(TP63): c.1963del (p.Arg655fs) deletion Pathogenic rs797044843 3:189612211-189612211 3:189894422-189894422
2 TP63 TP63, PRO127LEU single nucleotide variant Pathogenic
3 TP63 NM_003722.5(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 3:189584501-189584501 3:189866712-189866712
4 TP63 NM_003722.5(TP63): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic rs113993966 3:189586385-189586385 3:189868596-189868596
5 TP63 NM_003722.5(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 3:189586430-189586430 3:189868641-189868641
6 TP63 TP63, VAL114MET single nucleotide variant Pathogenic
7 TP63 NM_003722.5(TP63): c.1010G> A (p.Arg337Gln) single nucleotide variant Pathogenic rs113993967 3:189586386-189586386 3:189868597-189868597
8 TP63 NM_003722.5(TP63): c.325-18456A> C single nucleotide variant Pathogenic rs113993963 3:189507605-189507605 3:189789816-189789816
9 TP63 NM_003722.5(TP63): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs113993965 3:189526254-189526254 3:189808465-189808465
10 TP63 NM_003722.5(TP63): c.1846del (p.Leu616fs) deletion Pathogenic rs113993964 3:189612094-189612094 3:189894305-189894305

UniProtKB/Swiss-Prot genetic disease variations for Adult Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 TP63 p.Arg337Gln VAR_020875 rs113993967

Sources

Expression for Adult Syndrome

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Search GEO for disease gene expression data for Adult Syndrome.
Sources

Pathways for Adult Syndrome

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Pathways related to Adult Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
FOXA2 and FOXA3 transcription factor networks 1
10.8 NR3C1 INS
2
Insulin Pathway 1
10.59 INS GRB10
3
Aldosterone-regulated sodium reabsorption 37
10.19 INS HSD11B2
Sources

GO Terms for Adult Syndrome

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Biological processes related to Adult Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of mitotic nuclear division GO:0045840 9.16 INS IGF2
2 positive regulation of insulin receptor signaling pathway GO:0046628 8.96 INS IGF2
3 positive regulation of glycogen biosynthetic process GO:0045725 8.62 INS IGF2

Molecular functions related to Adult Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 9.16 NR3C1 HSD11B2
2 insulin-like growth factor receptor binding GO:0005159 8.96 INS IGF2
3 insulin receptor binding GO:0005158 8.8 INS IGF2 GRB10
Sources

Sources for Adult Syndrome

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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