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ADULT SYNDROME
MCID: ADL002
MIFTS: 70

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 56 12 74 52 58 73 36 29 13 54 6 15 71
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 56 12 52 58 73
Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome 58
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 29
Acro Dermato Ungual Lacrimal Tooth Syndrome 52
Syndrome, Adult 39
Adult 17

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

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: 33
Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Sources

Summaries for Adult Syndrome

About this section
UniProtKB/Swiss-Prot : 73 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 Aluminum hydroxide and Diclofenac have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and myeloid, and related phenotypes are dry skin and skin ulcer

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.

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

OMIM : 56 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)

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

Sources

Related Diseases for Adult Syndrome

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

(show top 50) (show all 6460)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 33.1 WDR20 TP63 IGF2 IGF1 H2AC18
2 laron syndrome 32.5 IGF2 IGF1 ADIPOQ
3 listeriosis 32.4 IL6 ICOSLG H2AC18
4 salivary gland disease 32.3 IL6 ICOSLG H2AC18
5 angina pectoris 32.2 INS IL6 ADIPOQ
6 fibromyalgia 32.1 POMC LEP IL6 IGF1
7 herpangina 32.1 IL6 ICOSLG H2AC18
8 craniopharyngioma 32.1 INS IL6 IGF1
9 short syndrome 32.1 INS IL6 ICOSLG
10 empty sella syndrome 32.1 POMC INS IGF1
11 obsessive-compulsive disorder 32.0 POMC LEP IL6 IGF1
12 lipoid congenital adrenal hyperplasia 32.0 REN POMC NR3C1 INS
13 adrenal cortical carcinoma 31.9 REN POMC IGF2 HSD11B2
14 abdominal obesity-metabolic syndrome 1 31.9 PPARG LEP INS ADIPOQ
15 maturity-onset diabetes of the young, type 1 31.9 PPARG LEP INS ADIPOQ
16 familial partial lipodystrophy 31.8 PPARG LEP INS ADIPOQ
17 maturity-onset diabetes of the young 31.8 PPARG MIA2 LEP INS H2AC18
18 endogenous depression 31.8 POMC NR3C1 INS IL6 H2AC18
19 aromatase excess syndrome 31.8 POMC LEP IGF1
20 chronic fatigue syndrome 31.7 POMC NR3C1 LEP INS IL6 IGF1
21 beckwith-wiedemann syndrome 31.7 WDR20 INS IGF2 IGF1 H2AC18 DNMT3B
22 acromegaly 31.6 POMC LEP INS IGF2 IGF1 ADIPOQ
23 lipid storage disease 31.5 PPARG LEP INS IL6 H2AC18 ADIPOQ
24 sleep disorder 31.4 REN POMC LEP INS IL6 IGF1
25 rett syndrome 31.4 POMC LEP IGF2 H2AC18 DNMT1
26 asthma 31.4 PPARG POMC NR3C1 LEP INS IL6
27 prediabetes syndrome 31.4 PPARG LEP INS IL6 IGF1 ADIPOQ
28 lipodystrophy, familial partial, type 2 31.4 PPARG LEP INS ADIPOQ
29 mental depression 31.3 POMC NR3C1 IL6 H2AC18
30 chronic kidney disease 31.3 REN POMC LEP INS IL6 IGF1
31 conn's syndrome 31.3 REN POMC NR3C1 LEP IGF1 HSD11B2
32 anxiety 31.2 POMC NR3C1 INS IL6
33 hypoglycemia 31.2 POMC NR3C1 INS IGF2 IGF1
34 acute cystitis 31.1 REN INS IL6 H2AC18
35 rhinitis 31.1 POMC NR3C1 IL6 ICOSLG
36 deficiency anemia 31.1 INS IL6 IGF1 H2AC18
37 fatty liver disease, nonalcoholic 1 31.0 LEP INS ADIPOQ
38 disease of mental health 31.0 POMC LEP INS IL6 H2AC18
39 pulmonary disease, chronic obstructive 31.0 NR3C1 INS IL6 ICOSLG H2AC18
40 hypopituitarism 30.9 POMC LEP INS IGF1
41 lipid metabolism disorder 30.9 PPARG LEP INS IL6 H2AC18 ADIPOQ
42 bacterial pneumonia 30.8 IL6 ICOSLG H2AC18
43 peptic ulcer disease 30.8 PPARG INS H2AC18
44 adenoma 30.8 REN POMC IGF1 HSD11B2
45 fatty liver disease 30.8 PPARG LEP INS IL6 ADIPOQ
46 sexual disorder 30.8 POMC INS IGF1 H2AC18
47 fetal alcohol spectrum disorder 30.8 IGF2 H2AC18 DNMT1
48 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.8 LEP INS ADIPOQ
49 osteochondrosis 30.8 NR3C1 IGF2 IGF1
50 decubitus ulcer 30.8 INS IL6 IGF1

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



Diseases related to Adult Syndrome
Sources

Symptoms & Phenotypes for Adult Syndrome

About this section

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 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
3 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
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 cutaneous photosensitivity 31 HP:0000992
25 microdontia 31 HP:0000691
26 wide intermamillary distance 31 HP:0006610
27 abnormality of the face 58 Occasional (29-5%)
28 split hand 31 HP:0001171
29 hypodontia 31 HP:0000668
30 conjunctivitis 31 HP:0000509
31 eczema 31 HP:0000964
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:

56
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

UMLS symptoms related to Adult Syndrome:


dry skin

MGI Mouse Phenotypes related to Adult Syndrome:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 ADIPOQ DNMT3B HSD11B2 IGF1 IGF2 IL6
2 cellular MP:0005384 10.38 ADIPOQ DNMT1 DNMT3B HSD11B2 IGF1 IGF2
3 behavior/neurological MP:0005386 10.36 ADIPOQ DNMT1 HSD11B2 IGF2 IL6 INS
4 homeostasis/metabolism MP:0005376 10.36 ADIPOQ DNMT3B HSD11B2 IGF1 IGF2 IL6
5 growth/size/body region MP:0005378 10.35 ADIPOQ DNMT1 DNMT3B IGF1 IGF2 IL6
6 immune system MP:0005387 10.31 ADIPOQ DNMT1 DNMT3B IGF1 IGF2 IL6
7 mortality/aging MP:0010768 10.31 ADIPOQ DNMT1 DNMT3B HSD11B2 IGF1 IGF2
8 hematopoietic system MP:0005397 10.3 ADIPOQ DNMT1 DNMT3B IGF1 IGF2 IL6
9 endocrine/exocrine gland MP:0005379 10.29 ADIPOQ DNMT3B IGF1 IGF2 IL6 INS
10 integument MP:0010771 10.22 ADIPOQ DNMT1 IGF1 IGF2 IL6 INS
11 digestive/alimentary MP:0005381 10.21 DNMT1 DNMT3B HSD11B2 IGF2 IL6 INS
12 adipose tissue MP:0005375 10.19 ADIPOQ IGF1 IL6 INS LEP NR3C1
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
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 1672)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 4 21645-51-2
2
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
3
Colistin Approved Phase 4 1264-72-8, 1066-17-7 5311054
4
Imipenem Approved Phase 4 74431-23-5, 64221-86-9 104838
5
Prochlorperazine Approved, Vet_approved Phase 4 58-38-8, 1984-02-6 4917
6
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
7
Neomycin Approved, Vet_approved Phase 4 1404-04-2 8378
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Etanercept Approved, Investigational Phase 4 185243-69-0
10
Edetic Acid Approved, Vet_approved Phase 4 60-00-4, 62-33-9 6049
11
Pentetic acid Approved Phase 4 67-43-6
12
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
13
Nitroprusside Approved, Investigational Phase 4 15078-28-1 11963622
14
Ceftriaxone Approved Phase 4 73384-59-5 5361919 5479530
15
Phenylephrine Approved Phase 4 59-42-7 6041
16
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
17
Ipratropium Approved, Experimental Phase 4 60205-81-4, 22254-24-6 43232 657309
18
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
19
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
20
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
21
Tazobactam Approved Phase 4 89786-04-9 123630
22
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
23
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
24
Amlodipine Approved Phase 4 88150-42-9 2162
25
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 17753757 6447131
26
Histamine Approved, Investigational Phase 4 51-45-6 774
27
Cetirizine Approved Phase 4 83881-51-0 2678
28
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
29
Cladribine Approved, Investigational Phase 4 4291-63-8 20279
30
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674
31
Oxytocin Approved, Vet_approved Phase 4 50-56-6 53477758 439302
32
Bisacodyl Approved Phase 4 603-50-9
33
Montelukast Approved Phase 4 158966-92-8 5281040
34
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
35
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
36
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
37
Mirabegron Approved Phase 4 223673-61-8 9865528
38
Ezetimibe Approved Phase 4 163222-33-1 150311
39
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
40
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
41
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
42
Clobetasol Approved, Experimental, Investigational Phase 4 25122-41-2, 25122-46-7 32798 5311051
43
Atorvastatin Approved Phase 4 134523-00-5 60823
44
Cobicistat Approved Phase 4 1004316-88-4
45
Benzyl alcohol Approved Phase 4 100-51-6 244
46
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
47
Artemether Approved Phase 4 71963-77-4 68911 9796294 119380
48
Thioguanine Approved Phase 4 154-42-7 2723601
49
Teniposide Approved Phase 4 29767-20-2 34698
50
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 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
2 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
3 Efficacy Evaluation of Surfactant Administration for Respiratory Distress Syndrome Treatment Via Laryngeal Mask Airway. A Randomized Controlled Trial Unknown status NCT01173237 Phase 4
4 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
5 Functional Residual Capacity Guided Alveolar Recruitment Strategy in Patients With Acute Respiratory Failure After Cardiac Surgery Unknown status NCT01280019 Phase 4
6 Comparative Trial of Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4 Surfactant
7 Effects of NMBA on the Alteration of Transpulmonary Pressures at the Early Phase of ARDS Unknown status NCT01573715 Phase 4 NIMBEX;NIMBEX
8 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
9 Prevention of Chronic Lung Disease (CLD) in Preterm Infants -A New Therapeutic Regimen Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
10 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
11 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
12 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
13 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
14 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
15 Effects of Dexmedetomidine on Delirium After Living Donor Renal Transplantation in Adult Patients Unknown status NCT02509949 Phase 4 Dexmedetomidine;Saline
16 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
17 N-acetylcysteine for the Treatment of Cannabis Dependence: Working Mechanisms Unknown status NCT03221231 Phase 4 N-acetylcysteine;Placebo Oral Tablet
18 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
19 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
20 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
21 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
22 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
23 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
24 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
25 Comparation the Effect of C-LMA and I-gel in Regurgitation and Postoperative Complications Unknown status NCT01876836 Phase 4
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 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
28 Efficacy of Concerta in Treating ADHD in Mothers of Children With ADHD Unknown status NCT00318981 Phase 4 Concerta
29 Identification and Treatment of the Liability to Develop Schizophrenia Unknown status NCT00305474 Phase 4 Risperidone
30 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
31 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
32 Antibiotic Prophylaxis for Percutaneous Endoscopic Gastrostomy (PEG) in Children: a Randomised Controlled Trial. Unknown status NCT01870167 Phase 4 co-amoxiclav
33 The Effect of Dexmedetomidine on Microcirculation in Septic Shock- A Double-blinded Study Unknown status NCT02612181 Phase 4 Dexmedetomidine for dexmedetomidine group
34 Intravenous Fluids in Benign Headaches Trail: A Randomized Single Blind Clinical Trial Unknown status NCT03185130 Phase 4 Normal Saline 5mL;Normal Saline 20mL/kg;Prochlorperazine 0.15 mg/kg up to 10 mg IV;Diphenhydramine 1 mg/kg up to 50 mg IV
35 Reduction of Symptomatic Ventricular Premature Beats With Ranolazine Unknown status NCT01996618 Phase 4 Ranolazine
36 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
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 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
39 Effect of the Administration of Etoricoxib on Postoperative Pain and Quality of Recovery in Patients Undergoing Thyroid Surgery Unknown status NCT00935116 Phase 4 etoricoxib
40 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
41 Comparative Immunogenicity Study of Two Live Attenuated Hepatitis A Vaccines Unknown status NCT03231605 Phase 4
42 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
43 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
44 Cellular Immunity in Adult Hepatitis B-vaccinated Serologic Non-responders Unknown status NCT01451801 Phase 4
45 Efficacy and Safety of Sivelestat Sodium Hydrate in Acute Lung Injury Associated With Systemic Inflammatory Response Syndrome, Compared With the Conventional Treatment in Japan Completed NCT00219375 Phase 4 Sivelestat sodium hydrate;Sivelestat sodium hydrate
46 An International, Open, Randomized, Controlled Study to Evaluate the Efficacy of Combining Prophylactic Curosurf® With Early Nasal CPAP Versus Early Nasal CPAP Alone in Very Preterm Infants at Risk of Respiratory Distress Syndrome Completed NCT00501982 Phase 4 Poractant alfa (Curosurf®)
47 Effects of Bolus Surfactant Therapy on Serial Peripheral Perfusion Index and Tissue Carbon Monoxide Measurements in Preterm Infants With Severe Respiratory Distress Syndrome Completed NCT01923844 Phase 4 exogenous surfactant
48 Comparison of Effectiveness of Nasal CPAP and Nasal IMV in Early Rescue Surfactant Treatment in Preterm Infants Completed NCT01741129 Phase 4
49 Rescue Surfactant for Respiratory Distress Syndrome (RDS) in Newborns: Comparing Efficacy of Delivery Via Laryngeal Mask Airway to Delivery by Endotracheal Intubation Completed NCT01042600 Phase 4
50 Assessment of the Cerebral Tissue Oxygenation and the Bioelectrical Brain Activity of Preterm Newborns During Administration of Two Different Surfactant Completed NCT01941524 Phase 4 Poractant alfa instillation;Beractant instillation

Search NIH Clinical Center for Adult Syndrome

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Genetic Tests for Adult Syndrome

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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

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MalaCards organs/tissues related to Adult Syndrome:

40
Lung, Testes, Myeloid, T Cells, B Cells, Bone, Brain
Sources

Publications for Adult Syndrome

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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. 56 6 61 54
18603493 2008
2
Further phenotypic and genetic variation in ADULT syndrome. 54 61 6 56
17041931 2006
3
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. 6 54 56 61
16724007 2006
4
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. 6 54 56 61
11929852 2002
5
TP63 gene mutation in ADULT syndrome. 56 6 54 61
11528512 2001
6
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. 56 6 61
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. 56 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. 6 56
11462173 2001
9
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. 61 56
20814947 2010
10
TP63-Related Disorders 6 61
20556892 2010
11
ADULT syndrome allelic to limb mammary syndrome (LMS)? 61 56
10607963 2000
12
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. 56 61
8456838 1993
13
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. 6
21204238 2011
14
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 6
17431922 2007
15
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 6
9443880 1998
16
EEC syndrome and genitourinary anomalies: an update. 6
8737655 1996
17
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome. 61 54
19781362 2009
18
Transcriptional activation of the tumor suppressor and differentiation gene S100A2 by a novel p63-binding site. 54 61
18388131 2008
19
Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression. 61 54
16957482 2006
20
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 61 54
16319531 2006
21
p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly. 61 54
14656652 2004
22
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 54 61
11159940 2001
23
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 61
31420900 2019
24
ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation. 61
30656674 2019
25
ADULT (acro-dermato-ungual-lacrimal-tooth) Syndrome: A Case Report from India. 61
29854643 2018
26
ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature. 61
28690486 2017
27
ADULT syndrome: dental features of a very rare condition. 61
28691455 2017
28
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. 61
28293528 2016
29
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. 61
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. 61
25983622 2015
31
Shaken adult syndrome: report of 2 cases. 61
24077385 2013
32
Ectodermal dysplasias: the p63 tail. 61
23407076 2013
33
ADULT syndrome due to an R243W mutation in TP63. 61
22607287 2012
34
A newborn with overlapping features of AEC and EEC syndromes. 61
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. 61
21990121 2011
36
Quantitation of brain edema and localisation of aquaporin 4 expression in relation to susceptibility to experimental cerebral malaria. 61
21904632 2011
37
ADULT syndrome caused by a mutation previously associated with EEC syndrome. 61
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. 61
20543567 2010
39
Regional case studies--Africa. 61
19346766 2009
40
Antisocial behavioral syndromes in cocaine and cannabis dependence. 61
18584570 2008
41
Acro-dermato-ungual-lacrimal-tooth syndrome: case report. 61
17531133 2007
42
Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome. 61
16929068 2006
43
Idiopathic normal pressure hydrocephalus: theoretical concept of a spinal etiology. 61
16520006 2006
44
Androgen excess fetal programming of female reproduction: a developmental aetiology for polycystic ovary syndrome? 61
15941725 2005
45
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. 61
15550149 2004
46
Shaken adult syndrome revisited. 61
12960674 2003
47
P63 gene mutations and human developmental syndromes. 61
12357472 2002
48
Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly. 61
12164578 2002
49
Attention-deficit/hyperactivity disorder: an update. 61
12144081 2002
50
The p63 gene in EEC and other syndromes. 61
12070241 2002
Sources

Variations for Adult Syndrome

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ClinVar genetic disease variations for Adult Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TP63 NM_003722.5(TP63):c.1963del (p.Arg655fs)deletion Pathogenic 208082 rs797044843 3:189612208-189612208 3:189894419-189894419
2 TP63 NM_003722.5(TP63):c.518G>A (p.Gly173Asp)SNV Pathogenic 38969 rs113993965 3:189526254-189526254 3:189808465-189808465
3 TP63 NM_003722.5(TP63):c.1846del (p.Leu616fs)deletion Pathogenic 38968 rs113993964 3:189612094-189612094 3:189894305-189894305
4 TP63 TP63, PRO127LEUSNV Pathogenic 6552
5 TP63 NM_003722.5(TP63):c.797G>A (p.Arg266Gln)SNV Pathogenic 6550 rs121908849 3:189584501-189584501 3:189866712-189866712
6 TP63 NM_003722.5(TP63):c.1009C>G (p.Arg337Gly)SNV Pathogenic 6548 rs113993966 3:189586385-189586385 3:189868596-189868596
7 TP63 NM_003722.5(TP63):c.1054A>G (p.Arg352Gly)SNV Pathogenic 6547 rs121908847 3:189586430-189586430 3:189868641-189868641
8 TP63 TP63, VAL114METSNV Pathogenic 6546
9 TP63 NM_003722.5(TP63):c.1010G>A (p.Arg337Gln)SNV Pathogenic 6540 rs113993967 3:189586386-189586386 3:189868597-189868597
10 TP63 NM_003722.5(TP63):c.325-18456A>CSNV Pathogenic 6537 rs113993963 3:189507605-189507605 3:189789816-189789816

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

73
# 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:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.26 PPARG LEP INS IGF1 ADIPOQ
3
Longevity regulating pathway 36
Show member pathways
 11.96 PPARG INS IGF1 ADIPOQ
4
Peptide hormone metabolism 65
Show member pathways
 11.91 REN POMC LEP INS IGF1
5
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 64
11.86 TP63 INS IL6 IGF1
6
Glucocorticoid receptor regulatory network 1
11.66 POMC NR3C1 IL6
7
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.61 PPARG LEP INS IL6 IGF1 ADIPOQ
8
Adipocytokine signaling pathway 36
11.57 POMC LEP ADIPOQ
9
Endochondral Ossification 1
11.53 SLC38A2 IGF2 IGF1
10
Cardiac Progenitor Differentiation 1
11.42 INS IGF2 IGF1
11
Differentiation Pathway 1
11.37 INS IL6 IGF1
12
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.32 NR3C1 IL6 IGF1
13
Adipogenesis 1
11.29 PPARG NR3C1 LEP INS IL6 IGF1
14
Aldosterone-regulated sodium reabsorption 36
11.2 INS IGF1 HSD11B2
15
Differentiation of white and brown adipocyte 1
10.94 PPARG LEP ADIPOQ
16
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.8 POMC LEP INS
17
Transcription factor regulation in adipogenesis 1
10.7 PPARG NR3C1 LEP IL6 ADIPOQ
Sources

GO Terms for Adult Syndrome

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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 10.18 TP63 PPARG POMC NR3C1 IL6 IGF2
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.04 TP63 PPARG NR3C1 LEP IGF2 DNMT3B
4 cellular protein metabolic process GO:0044267 9.96 INS IL6 IGF2 IGF1
5 positive regulation of gene expression GO:0010628 9.95 SLC38A2 INS IL6 IGF1 DNMT3B DNMT1
6 response to drug GO:0042493 9.91 REN PPARG HSD11B2 DNMT3B ADIPOQ
7 response to hypoxia GO:0001666 9.88 LEP HSD11B2 DNMT3B ADIPOQ
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.84 LEP INS IGF1
9 response to nutrient GO:0007584 9.84 PPARG LEP ADIPOQ
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.83 LEP IL6 IGF1
11 response to nutrient levels GO:0031667 9.82 PPARG LEP ADIPOQ
12 response to glucocorticoid GO:0051384 9.81 IL6 HSD11B2 ADIPOQ
13 positive regulation of osteoblast differentiation GO:0045669 9.8 TP63 IL6 IGF1
14 negative regulation of tumor necrosis factor production GO:0032720 9.78 POMC IGF1 ADIPOQ
15 response to activity GO:0014823 9.72 LEP DNMT3B ADIPOQ
16 positive regulation of glucose import GO:0046326 9.7 INS IGF1 ADIPOQ
17 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.67 PPARG ADIPOQ
18 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.67 IL6 IGF2 IGF1 ADIPOQ
19 negative regulation of lipid storage GO:0010888 9.66 LEP IL6
20 response to caffeine GO:0031000 9.65 PPARG DNMT3B
21 negative regulation of acute inflammatory response GO:0002674 9.63 PPARG INS
22 positive regulation of mitotic nuclear division GO:0045840 9.63 INS IGF2 IGF1
23 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.62 IGF1 DNMT1
24 cellular response to hyperoxia GO:0071455 9.61 PPARG DNMT3B
25 positive regulation of activated T cell proliferation GO:0042104 9.61 IGF2 IGF1 ICOSLG
26 negative regulation of histone H3-K9 methylation GO:0051573 9.6 DNMT3B DNMT1
27 bone mineralization involved in bone maturation GO:0035630 9.59 LEP IGF1
28 positive regulation of insulin receptor signaling pathway GO:0046628 9.58 LEP INS IGF2
29 positive regulation of glycogen (starch) synthase activity GO:2000467 9.57 IGF2 ADIPOQ
30 positive regulation of fatty acid metabolic process GO:0045923 9.56 PPARG ADIPOQ
31 regulation of blood pressure GO:0008217 9.56 REN PPARG POMC LEP
32 C-5 methylation of cytosine GO:0090116 9.54 DNMT3B DNMT1
33 positive regulation of glycogen biosynthetic process GO:0045725 9.5 INS IGF2 IGF1
34 glucose metabolic process GO:0006006 9.46 LEP INS IGF2 ADIPOQ
35 positive regulation of MAPK cascade GO:0043410 9.35 LEP INS IL6 IGF2 IGF1
36 glucose homeostasis GO:0042593 9.02 PPARG POMC LEP INS 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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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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