ADULT SYNDROME
MCID: ADL002
MIFTS: 69

Adult Syndrome (ADULT SYNDROME)

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

Aliases & Classifications for Adult Syndrome

MalaCards integrated aliases for Adult Syndrome:

Name: Adult Syndrome 57 12 73 20 58 72 36 29 13 54 6 15 70
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 57 12 20 58 72
Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome 58
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 29
Acro Dermato Ungual Lacrimal Tooth Syndrome 20
Syndrome, Adult 39
Adult 17

Characteristics:

Orphanet epidemiological data:

58
adult syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
adult syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Adult Syndrome

UniProtKB/Swiss-Prot : 72 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 wilms tumor 1 and laron syndrome, 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 AMP-activated Protein Kinase (AMPK) Signaling and Circadian rythm related genes. The drugs Neomycin and lanreotide have been mentioned in the context of this disorder. Affiliated tissues include myeloid, liver and bone, and related phenotypes are dry skin and melanocytic nevus

Disease Ontology : 12 A syndrome 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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 978 Definition A 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.

OMIM® : 57 ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome is characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and/or early loss of permanent teeth (summary by Reisler et al., 2006). (103285) (Updated 05-Apr-2021)

KEGG : 36 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 : 73 Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) is a rare genetic disease. It is an... more...

Related Diseases for Adult Syndrome

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

(show top 50) (show all 6036)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 32.0 TP63 REN IGF2 IGF1 H2AC18
2 laron syndrome 31.7 IGF2 IGF1 ADIPOQ
3 exanthem 31.6 IL6 ICOSLG H2AC18
4 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 31.6 H2AC18 DNMT3B DNMT1
5 rectal disease 31.4 IL6 ICOSLG H2AC18
6 diarrhea 31.4 REN POMC LEP IL6
7 craniopharyngioma 31.4 INS IL6 IGF1
8 obsessive-compulsive disorder 31.4 POMC LEP IL6 IGF1
9 chronic fatigue syndrome 31.4 POMC NR3C1 INS IL6 IGF1
10 fibromyalgia 31.4 POMC LEP IL6 IGF1
11 aromatase excess syndrome 31.3 POMC LEP INS IL6 IGF1
12 maturity-onset diabetes of the young 31.3 PPARG MIA2 LEP INS H2AC18
13 maturity-onset diabetes of the young, type 1 31.3 PPARG LEP INS ADIPOQ
14 lipodystrophy, familial partial, type 2 31.2 PPARG LEP INS ADIPOQ
15 familial partial lipodystrophy 31.2 PPARG LEP INS ADIPOQ
16 insulin-like growth factor i 31.2 LEP INS IGF2 IGF1
17 celiac disease 1 31.2 INS IL6 IGF1 ICOSLG H2AC18
18 substance abuse 31.2 POMC INS IL6 H2AC18
19 post-traumatic stress disorder 31.1 POMC NR3C1 ADIPOQ
20 anxiety 31.1 POMC NR3C1 INS IL6
21 type 2 diabetes mellitus 31.1 REN PPARG POMC NR3C1 LEP INS
22 mental depression 31.1 POMC NR3C1 INS IL6 H2AC18
23 rhinitis 31.1 POMC NR3C1 IL6 ICOSLG
24 acute stress disorder 31.1 POMC NR3C1 IL6
25 acute cystitis 31.0 REN INS IL6 H2AC18
26 eating disorder 31.0 POMC LEP ADIPOQ
27 lipid storage disease 31.0 PPARG LEP INS IL6 H2AC18 ADIPOQ
28 hypoglycemia 31.0 POMC NR3C1 INS IGF2 IGF1
29 lipid metabolism disorder 31.0 PPARG LEP INS IL6 ADIPOQ
30 hypothyroidism 31.0 REN POMC LEP INS IGF1 ADIPOQ
31 deficiency anemia 30.9 INS IL6 IGF1 ICOSLG H2AC18 DNMT1
32 hypopituitarism 30.9 POMC LEP INS IGF1
33 end stage renal disease 30.9 REN LEP INS IL6 ADIPOQ
34 pericarditis 30.9 LEP IL6 ADIPOQ
35 acne 30.9 POMC INS IL6 IGF1
36 hyperthyroidism 30.9 POMC LEP INS IGF1
37 turner syndrome 30.8 LEP INS IGF2 IGF1
38 sleep apnea 30.8 REN LEP INS IL6 IGF1 ADIPOQ
39 adenoma 30.8 REN POMC IGF1 HSD11B2
40 pulmonary disease, chronic obstructive 30.8 NR3C1 INS IL6 ICOSLG H2AC18
41 diabetes insipidus 30.8 REN POMC INS
42 mood disorder 30.8 POMC NR3C1 IL6 H2AC18 DNMT3B DNMT1
43 fatty liver disease 30.8 PPARG LEP INS IL6 ADIPOQ
44 bone resorption disease 30.8 PPARG LEP INS IL6 IGF1 H2AC18
45 acquired immunodeficiency syndrome 30.8 POMC NR3C1 IL6 IGF1
46 bacterial pneumonia 30.7 IL6 ICOSLG H2AC18
47 osteochondrosis 30.7 NR3C1 IGF2 IGF1
48 ileus 30.7 POMC INS IL6
49 short bowel syndrome 30.7 LEP IL6 IGF1
50 kidney disease 30.7 REN PPARG LEP INS IL6 ADIPOQ

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



Diseases related to Adult Syndrome

Symptoms & Phenotypes for Adult Syndrome

Human phenotypes related to Adult Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
2 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
3 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
4 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
5 nasolacrimal duct obstruction 58 31 hallmark (90%) Very frequent (99-80%) HP:0000579
6 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
7 freckling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001480
8 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
9 fingernail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100798
10 nail pits 58 31 hallmark (90%) Very frequent (99-80%) HP:0001803
11 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
12 split foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001839
13 toenail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100797
14 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
15 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
16 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
17 hypoplastic nipples 58 31 frequent (33%) Frequent (79-30%) HP:0002557
18 breast hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0003187
19 absent nipple 58 31 frequent (33%) Frequent (79-30%) HP:0002561
20 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
21 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
22 abnormality of the dentition 58 Very frequent (99-80%)
23 abnormality of the nail 58 Very frequent (99-80%)
24 microdontia 31 HP:0000691
25 wide intermamillary distance 31 HP:0006610
26 abnormality of the face 58 Occasional (29-5%)
27 split hand 31 HP:0001171
28 hypodontia 31 HP:0000668
29 conjunctivitis 31 HP:0000509
30 eczema 31 HP:0000964
31 cutaneous photosensitivity 31 HP:0000992
32 oral cleft 31 HP:0000202
33 sparse axillary hair 31 HP:0002215
34 oligodontia 31 HP:0000677
35 alopecia of scalp 31 HP:0002293
36 ectodermal dysplasia 31 HP:0000968
37 dermal atrophy 31 HP:0004334
38 adermatoglyphia 31 HP:0007455
39 fair hair 31 HP:0002286
40 premature loss of permanent teeth 31 HP:0006357

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
dry skin
freckling
thin skin
ectodermal dysplasia
adermatoglyphia
more
Head And Neck Eyes:
conjunctivitis
lacrimal duct obstruction

Skeletal Hands:
ectrodactyly
syndactyly

Skin Nails Hair Nails:
nail pits
dysplastic nails

Head And Neck Teeth:
hypodontia
oligodontia
small teeth
dysplastic teeth
premature loss of secondary teeth (<25 years)

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 (Updated 05-Apr-2021)

UMLS symptoms related to Adult Syndrome:


dry skin

MGI Mouse Phenotypes related to Adult Syndrome:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 ADIPOQ DNMT1 DNMT3B HSD11B2 IGF1 IGF2
2 cardiovascular system MP:0005385 10.39 ADIPOQ DNMT3B HSD11B2 IGF1 IGF2 IL6
3 growth/size/body region MP:0005378 10.38 ADIPOQ DNMT1 DNMT3B IGF1 IGF2 IL6
4 behavior/neurological MP:0005386 10.36 ADIPOQ DNMT1 HSD11B2 IGF2 IL6 INS
5 homeostasis/metabolism MP:0005376 10.36 ADIPOQ DNMT3B HSD11B2 IGF1 IGF2 IL6
6 hematopoietic system MP:0005397 10.34 ADIPOQ DNMT1 DNMT3B IGF1 IGF2 IL6
7 immune system MP:0005387 10.31 ADIPOQ DNMT1 DNMT3B IGF1 IGF2 IL6
8 mortality/aging MP:0010768 10.31 ADIPOQ DNMT1 DNMT3B HSD11B2 IGF1 IGF2
9 endocrine/exocrine gland MP:0005379 10.29 ADIPOQ DNMT3B IGF1 IGF2 IL6 INS
10 integument MP:0010771 10.26 ADIPOQ DNMT1 DNMT3B IGF1 IGF2 IL6
11 adipose tissue MP:0005375 10.19 ADIPOQ IGF1 IL6 INS LEP NR3C1
12 digestive/alimentary MP:0005381 10.16 DNMT1 HSD11B2 IGF2 IL6 INS LEP
13 muscle MP:0005369 10.14 ADIPOQ HSD11B2 IGF1 IGF2 IL6 INS
14 liver/biliary system MP:0005370 10.11 ADIPOQ DNMT3B IGF2 IL6 INS LEP
15 nervous system MP:0003631 10.1 ADIPOQ DNMT1 DNMT3B IGF1 IGF2 IL6
16 neoplasm MP:0002006 10.07 ADIPOQ DNMT1 DNMT3B HSD11B2 IGF1 IL6
17 renal/urinary system MP:0005367 9.93 ADIPOQ HSD11B2 IGF1 IGF2 IL6 INS
18 no phenotypic analysis MP:0003012 9.86 DNMT1 DNMT3B IGF2 INS NR3C1 POMC
19 reproductive system MP:0005389 9.7 DNMT1 DNMT3B IGF1 IGF2 IL6 INS
20 skeleton MP:0005390 9.36 ADIPOQ DNMT3B IGF1 IGF2 IL6 INS

Drugs & Therapeutics for Adult Syndrome

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

(show top 50) (show all 1656)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Neomycin Approved, Vet_approved Phase 4 1404-04-2 8378
2
lanreotide Approved Phase 4 108736-35-2
3
Methimazole Approved Phase 4 60-56-0 1349907
4
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
5
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
6
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
7
Iron Approved Phase 4 7439-89-6 23925 29936
8
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
9
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
10
Tazobactam Approved Phase 4 89786-04-9 123630
11
Daunorubicin Approved Phase 4 20830-81-3 30323
12
Lactitol Approved, Investigational Phase 4 585-86-4 157355
13
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
14
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
15
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
16
Sulfamethoxazole Approved Phase 4 723-46-6 5329
17
Etanercept Approved, Investigational Phase 4 185243-69-0
18
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
19
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
20
Lopinavir Approved Phase 4 192725-17-0 92727
21
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
22
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
23
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
24
Phenylephrine Approved Phase 4 59-42-7 6041
25
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
26
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
27
Glycerol Approved, Investigational Phase 4 56-81-5 753
28
Amlodipine Approved Phase 4 88150-42-9 2162
29
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
30
Dapsone Approved, Investigational Phase 4 80-08-0 2955
31
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
32
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
33
Citalopram Approved Phase 4 59729-33-8 2771
34
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
35
Levetiracetam Approved Phase 4 102767-28-2 441341
36
Memantine Approved, Investigational Phase 4 19982-08-2 4054
37
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
38
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
39
Sulbactam Approved Phase 4 68373-14-8
40
Dihydroartemisinin Approved, Experimental, Investigational Phase 4 71939-50-9 6918483
41
Piperaquine Approved, Experimental, Investigational Phase 4 4085-31-8 5079497
42
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
43
Mefloquine Approved, Investigational Phase 4 53230-10-7 4046
44
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
45
Saxagliptin Approved Phase 4 361442-04-8 11243969
46
Eslicarbazepine acetate Approved Phase 4 236395-14-5, 75970-99-9 123618
47
Capsaicin Approved Phase 4 404-86-4 1548943
48
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
49
Aldesleukin Approved Phase 4 85898-30-2, 110942-02-4
50
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Piperacillin/Tazobactam Versus Carbapenems in Non-bacteremic Urinary Tract Infections Due to Extended-spectrum β-lactamase (ESBL)-Producing Escherichia Coli or Klebsiella Pneumoniae - (CAPITIS Study) Unknown status NCT03891433 Phase 4 Meropenem;Ertapenem 1000 MG;Piperacillin, Tazobactam 4-0.5G Solution for Injection
2 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
3 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
4 Efficacy Evaluation of Surfactant Administration for Respiratory Distress Syndrome Treatment Via Laryngeal Mask Airway. A Randomized Controlled Trial Unknown status NCT01173237 Phase 4
5 Comparative Trial of Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4 Surfactant
6 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
7 Sleep Intervention During Acute Lung Injury Unknown status NCT01050699 Phase 4 Dexmedetomidine;Midazolam and Fentanyl
8 Functional Residual Capacity Guided Alveolar Recruitment Strategy in Patients With Acute Respiratory Failure After Cardiac Surgery Unknown status NCT01280019 Phase 4
9 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
10 Effects of NMBA on the Alteration of Transpulmonary Pressures at the Early Phase of ARDS Unknown status NCT01573715 Phase 4 NIMBEX;NIMBEX
11 Prevention of Chronic Lung Disease (CLD) in Preterm Infants -A New Therapeutic Regimen Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
12 Routine Administration of Surfactant/Budesonide to Prevent BPD in VLBW With RDS-A Double Blind Study Unknown status NCT03275415 Phase 4 budesonide;Saline
13 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
14 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
15 Efficacy of Rescue Surfactant Delivery Via Endotracheal Intubation (INSURE Technique) Versus Laryngeal Mask Airway (LMA) for Respiratory Distress Syndrome (RDS) in Preterm Neonates Unknown status NCT02164734 Phase 4 remifentanil
16 The Safety and Efficacy of Ledipasvir/Sofosbuvir Fixed-Dose Combination for Treatment of Egyptian Children and Adolescents With Chronic Hepatitis C (HCV)-Genotype 4 Unknown status NCT03743727 Phase 4 Combined therapy LDV and SOF
17 The Effect of a Circuit Resistance Training, Empagliflozin or "Vegeterranean Diet" on Physical and Metabolic Function in Elderly Subjects With Type 2 Diabetes: a Study Protocol for a Randomized Control Trial (CEV-65 Trial) Unknown status NCT03560375 Phase 4 Empagliflozin 10 MG
18 Cellular Immunity in Adult Hepatitis B-vaccinated Serologic Non-responders Unknown status NCT01451801 Phase 4
19 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
20 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
21 Efficacy of Concerta in Treating ADHD in Mothers of Children With ADHD Unknown status NCT00318981 Phase 4 Concerta
22 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
23 The Acute Effects of Moderate Intensity Exercise and Caffeine Ingestion on Cognition in Non-Caffeine Consumers and Caffeine Consumers Unknown status NCT03400423 Phase 4 Caffeine
24 Randomized, Parallel-group, Placebo-controlled, Safety-assessor Blinded Trial in Adult Subjects Evaluating the Efficacy and Safety of Sugammadex for Reversal of Pipecuronium-induced Neuromuscular Blockade in Subjects Undergoing Abdominal Surgery Under General Anesthesia Unknown status NCT01424488 Phase 4 sugammadex;placebo
25 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
26 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
27 A Phase 4, Single Arm, Open Label, Pilot Study of Maraviroc (Celsentri) in Combination With Raltegravir and Darunavir/Ritonavir for the Treatment of Triple Class Failure in Adult HIV-1 Infected Patients. Unknown status NCT01013987 Phase 4 maraviroc;Raltegravir;Darunavir/ritonavir
28 Treatment With Lanreotide Autogel (Somatostatin Analogue) in Patients With Congenital Hyperinsulinism of Infancy Already Treated With Somatostatin Analog by Pump Unknown status NCT01070758 Phase 4 Lanreotide autogel
29 Efficacy and Safety Study of Guanxin Shutong Capsule to Treat Chronic Stable Angina: A Randomised, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02280850 Phase 4 Guanxin Shutong Capsule;Placebo Capsule;nitroglycerine
30 Cardiopulmonary Capacity In Different Quartiles Ranges Of Reference For Serum Thyroid Stimulating Hormone (TSH): Sectional Evaluation And Effect Of The Use Of Methimazole In Elderly Population Unknown status NCT01849861 Phase 4 Methimazole
31 Pharmacokinetic Interaction Between Coartem® and Either Nevirapine, Efavirenz or Rifampicin in HIV Positive Ugandan Patients Unknown status NCT00620438 Phase 4 Lumefantrine-artemether and nevirapine;lumefantrine-artemether and efavirenz;Lumefantrine-artemether and rifampicin
32 Influence of Albumin on the Development of Acute Renal Dysfunction Associated With Cardiac Surgery Under Extracorporeal Circulation Unknown status NCT03373318 Phase 4 Human albumin;Plasmalyte
33 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
34 Treatment Prediction in Adolescent and Adult Depression Unknown status NCT00106197 Phase 4 Bupropion
35 A Pilot Trial of Intravenous Iron for the Treatment of Iron Deficiency in Adult Patients With Cystic Fibrosis Unknown status NCT03632525 Phase 4 Ferric carboxymaltose
36 Effect of Mobile-Directly Observed Therapy (DOT) on Adherence to Hydroxyurea Treatment in Adult HbSS Patients at Muhimbili National Hospital (MNH) in Tanzania: a Pilot Study Unknown status NCT02844673 Phase 4 Hydroxyurea
37 Testing if BCG (Bacille Calmette-Guérin) Vaccination Can Induce Innate Immune Training in Adult People Above 50 Years of Age in Guinea-Bissau Unknown status NCT02953327 Phase 4
38 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
39 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
40 Multicenter, PhaseⅣ, 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
41 Metformin and Sitagliptin Therapy for Adult Patients With Type 2 Diabetes Admitted to the General Medical Unit Unknown status NCT02250794 Phase 4 metformin and sitagliptin;insulin glargine and insulin lispro;metformin and sitagliptin;insulin glargine and insulin lispro
42 Effects of Dexmedetomidine and Dopamine on Renal Function After Selective Major Surgery in Adult Patients Unknown status NCT03170739 Phase 4 Dexmedetomidine;Dopamine
43 Efficacy and Safety of an Initial Regimen Raltegravir (RAL) + Lamivudine/Abacavir Fixed-Dose Combination (3TC/ABC FDC) for 48 Weeks in ART-naïve, HIV/TB Co-Infected Adult Subjects Receiving Rifabutin-containing, 1-line Anti-TB Therapy Unknown status NCT01059422 Phase 4 Raltegravir; Abacavir/Lamivudine
44 Effect of Omega-3 in Cognition of Young Healthy Adult Unknown status NCT03781557 Phase 4
45 A Double Blind Placebo Controlled Randomised Trial to Study the Effects of Birch Pollen Specific Immunotherapy (BP-SIT) on the Symptoms of the Oral Allergy Syndrome in Adult Patients Unknown status NCT01431859 Phase 4
46 A Pilot Study to Characterize the Immune Response Induced by a Commercial Varicella Zoster Virus Vaccine in Healthy Adult Females in Nairobi, Kenya. Unknown status NCT02514018 Phase 4
47 A Randomized, Open-labelled Bronchoscopy Study to Assess the Effects of Inhaled Corticosteroids (ICS) on Adult Healthy Volunteers Unknown status NCT02476825 Phase 4 Fluticasone propionate
48 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Unknown status NCT03596957 Phase 4 Tolvaptan
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 Effects on Clinical and Functional Outcome of Escitalopram in Adult Stroke Unknown status NCT00967408 Phase 4 Escitalopram;Placebo

Search NIH Clinical Center for Adult Syndrome

Genetic Tests for Adult Syndrome

Genetic tests related to Adult Syndrome:

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

Anatomical Context for Adult Syndrome

MalaCards organs/tissues related to Adult Syndrome:

40
Myeloid, Liver, Bone, Lung, Skin, T Cells, Bone Marrow

Publications for Adult Syndrome

Articles related to Adult Syndrome:

(show top 50) (show all 61)
# Title Authors PMID Year
1
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 6 57 54 61
18603493 2008
2
Further phenotypic and genetic variation in ADULT syndrome. 6 57 54 61
17041931 2006
3
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. 61 6 57 54
16724007 2006
4
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. 6 57 61 54
11929852 2002
5
TP63 gene mutation in ADULT syndrome. 54 57 6 61
11528512 2001
6
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. 61 6 57
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. 57 6 61
16114047 2005
8
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 57 6
11462173 2001
9
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. 57 61
20814947 2010
10
ADULT syndrome allelic to limb mammary syndrome (LMS)? 57 61
10607963 2000
11
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. 61 57
8456838 1993
12
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. 6
21204238 2011
13
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 6
17431922 2007
14
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 6
9443880 1998
15
EEC syndrome and genitourinary anomalies: an update. 6
8737655 1996
16
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome. 54 61
19781362 2009
17
Transcriptional activation of the tumor suppressor and differentiation gene S100A2 by a novel p63-binding site. 61 54
18388131 2008
18
Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression. 61 54
16957482 2006
19
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 61 54
16319531 2006
20
p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly. 61 54
14656652 2004
21
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 61 54
11159940 2001
22
Children and Adults with PFAPA Syndrome: Similarities and Divergences in a Real-Life Clinical Setting. 61
33315168 2021
23
EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report. 61
33126320 2020
24
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 61
31420900 2019
25
ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation. 61
30656674 2019
26
ADULT (acro-dermato-ungual-lacrimal-tooth) Syndrome: A Case Report from India. 61
29854643 2018
27
ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature. 61
28690486 2017
28
ADULT syndrome: dental features of a very rare condition. 61
28691455 2017
29
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. 61
28293528 2016
30
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. 61
27469932 2016
31
A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. 61
25983622 2015
32
Shaken adult syndrome: report of 2 cases. 61
24077385 2013
33
Ectodermal dysplasias: the p63 tail. 61
23407076 2013
34
ADULT syndrome due to an R243W mutation in TP63. 61
22607287 2012
35
A newborn with overlapping features of AEC and EEC syndromes. 61
22065614 2011
36
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. 61
21990121 2011
37
Quantitation of brain edema and localisation of aquaporin 4 expression in relation to susceptibility to experimental cerebral malaria. 61
21904632 2011
38
ADULT syndrome caused by a mutation previously associated with EEC syndrome. 61
21078104 2010
39
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. 61
20543567 2010
40
TP63-Related Disorders 61
20556892 2010
41
Regional case studies--Africa. 61
19346766 2009
42
Antisocial behavioral syndromes in cocaine and cannabis dependence. 61
18584570 2008
43
Acro-dermato-ungual-lacrimal-tooth syndrome: case report. 61
17531133 2007
44
Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome. 61
16929068 2006
45
Idiopathic normal pressure hydrocephalus: theoretical concept of a spinal etiology. 61
16520006 2006
46
Androgen excess fetal programming of female reproduction: a developmental aetiology for polycystic ovary syndrome? 61
15941725 2005
47
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. 61
15550149 2004
48
Shaken adult syndrome revisited. 61
12960674 2003
49
P63 gene mutations and human developmental syndromes. 61
12357472 2002
50
Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly. 61
12164578 2002

Variations for Adult Syndrome

ClinVar genetic disease variations for Adult Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP63 NM_003722.5(TP63):c.1846del (p.Leu616fs) Deletion Pathogenic 38968 rs113993964 GRCh37: 3:189612094-189612094
GRCh38: 3:189894305-189894305
2 TP63 P127L SNV Pathogenic 6552 GRCh37:
GRCh38:
3 TP63 NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) SNV Pathogenic 6548 rs113993966 GRCh37: 3:189586385-189586385
GRCh38: 3:189868596-189868596
4 TP63 TP63, VAL114MET SNV Pathogenic 6546 GRCh37:
GRCh38:
5 TP63 NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) SNV Pathogenic 6540 rs113993967 GRCh37: 3:189586386-189586386
GRCh38: 3:189868597-189868597
6 TP63 NM_003722.5(TP63):c.325-18456A>C SNV Pathogenic 6537 rs113993963 GRCh37: 3:189507605-189507605
GRCh38: 3:189789816-189789816
7 TP63 NM_003722.5(TP63):c.797G>A (p.Arg266Gln) SNV Pathogenic 6550 rs121908849 GRCh37: 3:189584501-189584501
GRCh38: 3:189866712-189866712
8 TP63 NM_003722.5(TP63):c.1963del (p.Arg655fs) Deletion Pathogenic 208082 rs797044843 GRCh37: 3:189612208-189612208
GRCh38: 3:189894419-189894419
9 TP63 NM_003722.5(TP63):c.518G>A (p.Gly173Asp) SNV Pathogenic 38969 rs113993965 GRCh37: 3:189526254-189526254
GRCh38: 3:189808465-189808465
10 TP63 NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) SNV Pathogenic 6547 rs121908847 GRCh37: 3:189586430-189586430
GRCh38: 3:189868641-189868641

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

72
# Symbol AA change Variation ID SNP ID
1 TP63 p.Arg337Gln VAR_020875 rs113993967

Expression for Adult Syndrome

Search GEO for disease gene expression data for Adult Syndrome.

Pathways for Adult Syndrome

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 PPARG LEP INS IGF1 ADIPOQ
3
Show member pathways
11.96 PPARG INS IGF1 ADIPOQ
4
Show member pathways
11.91 REN POMC LEP INS IGF1
5 11.86 TP63 INS IL6 IGF1
6 11.66 POMC NR3C1 IL6
7 11.61 PPARG LEP INS IL6 IGF1 ADIPOQ
8 11.57 POMC LEP ADIPOQ
9 11.54 SLC38A2 IGF2 IGF1
10 11.42 INS IGF2 IGF1
11 11.37 INS IL6 IGF1
12 11.32 NR3C1 IL6 IGF1
13 11.29 PPARG NR3C1 LEP INS IL6 IGF1
14 11.2 INS IGF1 HSD11B2
15 10.94 PPARG LEP ADIPOQ
16 10.8 POMC LEP INS
17 10.7 PPARG NR3C1 LEP IL6 ADIPOQ

GO Terms for Adult Syndrome

Cellular components related to Adult Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.23 REN POMC LEP INS IL6 IGF2

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.24 PPARG POMC NR3C1 LEP INS IL6
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.17 TP63 PPARG POMC NR3C1 IL6 IGF2
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 TP63 PPARG NR3C1 LEP IGF2 DNMT3B
4 positive regulation of gene expression GO:0010628 9.97 SLC38A2 INS IL6 IGF1 DNMT3B DNMT1
5 cellular protein metabolic process GO:0044267 9.96 INS IL6 IGF2 IGF1
6 response to drug GO:0042493 9.92 REN PPARG HSD11B2 DNMT3B ADIPOQ
7 response to hypoxia GO:0001666 9.9 LEP HSD11B2 DNMT3B ADIPOQ
8 response to nutrient GO:0007584 9.84 PPARG LEP ADIPOQ
9 negative regulation of tumor necrosis factor production GO:0032720 9.84 POMC IGF1 ADIPOQ
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.83 LEP IL6 IGF1
11 positive regulation of osteoblast differentiation GO:0045669 9.82 TP63 IL6 IGF1
12 response to glucocorticoid GO:0051384 9.81 IL6 HSD11B2 ADIPOQ
13 placenta development GO:0001890 9.73 PPARG PHLDA2 LEP
14 positive regulation of glucose import GO:0046326 9.71 INS IGF1 ADIPOQ
15 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.71 IL6 IGF2 IGF1 ADIPOQ
16 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.67 PPARG ADIPOQ
17 response to caffeine GO:0031000 9.65 PPARG DNMT3B
18 negative regulation of lipid storage GO:0010888 9.65 LEP IL6
19 positive regulation of mitotic nuclear division GO:0045840 9.65 INS IGF2 IGF1
20 negative regulation of acute inflammatory response GO:0002674 9.63 PPARG INS
21 positive regulation of activated T cell proliferation GO:0042104 9.63 IGF2 IGF1 ICOSLG
22 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.62 IGF1 DNMT1
23 cellular response to hyperoxia GO:0071455 9.62 PPARG DNMT3B
24 regulation of blood pressure GO:0008217 9.62 REN PPARG POMC LEP
25 bone mineralization involved in bone maturation GO:0035630 9.61 LEP IGF1
26 negative regulation of histone H3-K9 methylation GO:0051573 9.61 DNMT3B DNMT1
27 positive regulation of insulin receptor signaling pathway GO:0046628 9.61 LEP INS IGF2
28 positive regulation of glycogen (starch) synthase activity GO:2000467 9.58 IGF2 ADIPOQ
29 regulation of glycogen metabolic process GO:0070873 9.58 POMC PHLDA2
30 positive regulation of fatty acid metabolic process GO:0045923 9.57 PPARG ADIPOQ
31 glucose metabolic process GO:0006006 9.56 LEP INS IGF2 ADIPOQ
32 C-5 methylation of cytosine GO:0090116 9.55 DNMT3B DNMT1
33 positive regulation of glycogen biosynthetic process GO:0045725 9.54 INS IGF2 IGF1
34 response to activity GO:0014823 9.46 LEP IL6 DNMT3B ADIPOQ
35 positive regulation of MAPK cascade GO:0043410 9.35 LEP INS IL6 IGF2 IGF1
36 glucose homeostasis GO:0042593 9.1 PPARG POMC LEP INS IL6 ADIPOQ

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.77 REN POMC LEP ICOSLG ADIPOQ
2 insulin receptor binding GO:0005158 9.33 INS IGF2 IGF1
3 DNA-methyltransferase activity GO:0009008 9.32 DNMT3B DNMT1
4 DNA (cytosine-5-)-methyltransferase activity GO:0003886 9.26 DNMT3B DNMT1
5 insulin-like growth factor receptor binding GO:0005159 9.26 REN INS IGF2 IGF1
6 hormone activity GO:0005179 9.1 POMC LEP INS IGF2 IGF1 ADIPOQ

Sources for Adult Syndrome

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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