MCID: ADL002
MIFTS: 57

Adult Syndrome

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

Aliases & Classifications for Adult Syndrome

MalaCards integrated aliases for Adult Syndrome:

Name: Adult Syndrome 54 12 50 24 56 71 29 13 52 14 69
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 12 50 24 56 71
Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome 56
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 29
Acro Dermato Ungual Lacrimal Tooth Syndrome 50
Acrodermatounguallacrimaltooth Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
adult syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
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:



Summaries for Adult Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 978disease definitionadult (acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) 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. last updated: 9/1/2016

MalaCards based summary : Adult Syndrome, also known as acro-dermato-ungual-lacrimal-tooth syndrome, is related to limb-mammary syndrome and hypomyelinating leukodystrophy, and has symptoms including sparse scalp hair, alopecia and breast hypoplasia. 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 Iloprost and Moxonidine have been mentioned in the context of this disorder. Affiliated tissues include ovary, eye and myeloid, and related phenotype is embryo.

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.

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 103285

Related Diseases for Adult Syndrome

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



Diseases related to Adult Syndrome

Symptoms & Phenotypes for Adult Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Skin Nails & Hair- Skin:
thin skin
dry skin
dermatitis
freckling
atrophic skin
more
Skeletal- Hands:
syndactyly
ectrodactyly

Skin Nails & Hair- Nails:
dysplastic nails
nail pits

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

Skeletal- Feet:
syndactyly
ectrodactyly

Head And Neck- Eyes:
conjunctivitis
lacrimal duct obstruction

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


Clinical features from OMIM:

103285

Human phenotypes related to Adult Syndrome:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse scalp hair 56 32 frequent (33%) Frequent (79-30%) HP:0002209
2 alopecia 56 32 frequent (33%) Frequent (79-30%) HP:0001596
3 breast hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0003187
4 thin skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000963
5 wide nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000431
6 finger syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0006101
7 toe syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001770
8 dry skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000958
9 hypoplastic nipples 56 32 frequent (33%) Frequent (79-30%) HP:0002557
10 fine hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002213
11 freckling 56 32 hallmark (90%) Very frequent (99-80%) HP:0001480
12 prominent nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000426
13 nail pits 56 32 hallmark (90%) Very frequent (99-80%) HP:0001803
14 split foot 56 32 hallmark (90%) Very frequent (99-80%) HP:0001839
15 nasolacrimal duct obstruction 56 32 hallmark (90%) Very frequent (99-80%) HP:0000579
16 melanocytic nevus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000995
17 skin ulcer 56 32 hallmark (90%) Very frequent (99-80%) HP:0200042
18 abnormality of dental morphology 56 32 frequent (33%) Frequent (79-30%) HP:0006482
19 fingernail dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100798
20 toenail dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100797
21 absent nipple 56 32 frequent (33%) Frequent (79-30%) HP:0002561
22 premature loss of permanent teeth 32 HP:0006357
23 hypodontia 32 HP:0000668
24 conjunctivitis 32 HP:0000509
25 microdontia 32 HP:0000691
26 eczema 32 HP:0000964
27 alopecia of scalp 32 HP:0002293
28 oligodontia 32 HP:0000677
29 sparse axillary hair 32 HP:0002215
30 ectodermal dysplasia 32 HP:0000968
31 adermatoglyphia 32 HP:0007455
32 fair hair 32 HP:0002286
33 split hand 32 HP:0001171
34 cutaneous photosensitivity 32 HP:0000992
35 oral cleft 32 HP:0000202
36 abnormality of the teeth 56 Very frequent (99-80%)
37 abnormality of the nail 56 Very frequent (99-80%)
38 wide intermamillary distance 32 HP:0006610
39 abnormality of the face 56 Occasional (29-5%)
40 dermal atrophy 32 HP:0004334

UMLS symptoms related to Adult Syndrome:


dry skin

MGI Mouse Phenotypes related to Adult Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.1 GRB10 IGF2 INS PHLDA2 SATB2 TP63

Drugs & Therapeutics for Adult Syndrome

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

(show top 50) (show all 1647)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iloprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 78919-13-8 6443959
2
Moxonidine Approved Phase 4 75438-57-2 4810
3
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
4
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 59467-70-8 4192
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Remifentanil Approved Phase 4,Early Phase 1 132875-61-7 60815
7
Cyproterone Acetate Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1 427-51-0
8
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757
9
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 57-63-6 5991
10
Sodium oxybate Approved Phase 4 502-85-2 5360545
11
Orlistat Approved, Investigational Phase 4,Phase 2,Phase 1 96829-58-2 3034010
12
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 51-43-4 5816
13
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-23-7 5754 657311
14 Racepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1
15
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
16
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 1 3056-17-5 18283
17
Pentoxifylline Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 6493-05-6 4740
18
Ezetimibe Approved Phase 4,Phase 3 163222-33-1 150311
19
Simvastatin Approved Phase 4,Phase 3,Phase 2 79902-63-9 54454
20
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
21
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 83-43-2 6741
22
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
23
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
24
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-24-8 5755
25
Azacitidine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 320-67-2 9444
26
Decitabine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 2353-33-5 451668
27
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
28
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
29
Rivaroxaban Approved Phase 4,Phase 3,Phase 2 366789-02-8
30 lanreotide Approved Phase 4,Phase 3,Phase 2 108736-35-2
31
Somatostatin Approved Phase 4,Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
32
Ranolazine Approved, Investigational Phase 4,Phase 3,Phase 2 142387-99-3, 95635-55-5 56959
33
Acetylcholine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 51-84-3 187
34
Calcium Carbonate Approved Phase 4,Phase 3,Phase 1,Phase 2 471-34-1
35
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
36
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
37
Citalopram Approved Phase 4,Phase 3,Phase 2,Phase 1 59729-33-8 2771
38
Benzocaine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 1994-09-7, 94-09-7 2337
39
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
40
Varenicline Approved, Investigational Phase 4,Phase 3 249296-44-4 5310966
41
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
42
Chromium Approved Phase 4,Phase 3 7440-47-3 27668
43
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
44
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
45
Bivalirudin Approved, Investigational Phase 4,Phase 3 128270-60-0 16129704
46
Tenecteplase Approved Phase 4,Phase 1 191588-94-0
47
Tirofiban Approved Phase 4,Phase 3 144494-65-5 60947
48
Ramipril Approved Phase 4,Phase 3,Phase 1,Early Phase 1 87333-19-5 5362129
49
Telmisartan Approved, Investigational Phase 4,Phase 3 144701-48-4 65999
50
Metyrapone Approved Phase 4,Phase 3 54-36-4 4174

Interventional clinical trials:

(show top 50) (show all 10000)

id Name Status NCT ID Phase Drugs
1 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
2 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
3 Study of the Effect of Moxonidine and Diet on Sympathetic Functions in Young Adults With Obesity Unknown status NCT01180231 Phase 4 Moxonidine (Physiotens)
4 Vitamin D and Inflammatory Cytokine Levels After Acute Myocardial Infraction (MI) Unknown status NCT01115842 Phase 4 Vitamin D
5 Effects of Neuromuscular Blocking Agents (NMBA) on the Alteration of Transpulmonary Pressures at the Early Phase of Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT01573715 Phase 4 NIMBEX;NIMBEX
6 Effect of Growth Hormone in Metabolic Syndrome Unknown status NCT00307411 Phase 4 Growth hormone
7 Trial of Supplementation With Aged Garlic Extract to Improve Endothelial Function in Patients With Metabolic Syndrome Unknown status NCT01168700 Phase 4 aged garlic extract;Placebo
8 Therapeutic Monitoring of Metformin in Women With Polycystic Ovary Syndrome Unknown status NCT01366391 Phase 4 Metformin
9 Saccharomyces Boulardii in Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
10 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
11 Metformin in Postmenopausal Women With Metabolic Syndrome Unknown status NCT01342744 Phase 4 Metformin;Placebo
12 Propofol Versus Midazolam as Premedication for Preterm Neonates With Respiratory Distress Syndrome (RDS) Unknown status NCT00797160 Phase 4 propofol
13 the Effect of Diane-35 Pretreatment on In-vitro Fertilization Outcome for Patients With Polycystic Ovary Syndrome Unknown status NCT01752270 Phase 4 Diane-35 pretreatment;Diane-35 pretreatment
14 Surgical Ovarian Drilling Versus Hormonal Treatment for Infertility Associated to PolyCystic Ovaries Syndrome (PCOS) Unknown status NCT00378729 Phase 4 Metformin and FSHr
15 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
16 The Effect of Weight Loss on Anti-Müllerian Hormone Levels in Women With Polycystic Ovary Syndrome (PCOS) Unknown status NCT01475019 Phase 4 Orlistat;Sibutramine
17 Effect of Treatment With Stress-Doses Glucocorticoid in Patients With Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
18 Study on the Antiviral Therapy and Immune Reconstitution of Chinese HIV/AIDS Patients Unknown status NCT00872417 Phase 4 first line ARV (3TC+NVP+D4T or 3TC+NVP+AZT);second line ARV therapy (3TC+TDF+LPV/RTV)
19 Effect of Pentoxifylline on Tight Junctions (TJs) of Intestinal Mucosa in Patients With Irritable Bowel Syndrome(IBS) Unknown status NCT01542268 Phase 4 pentoxifylline;pentoxifylline placebo
20 Effects of Ezetimibe, Simvastatin, and Vytorin on Reducing L5 a Subfraction of LDL in Patients With Metabolic Syndrome. Unknown status NCT00988364 Phase 4 Simvastatin;Vytorin;Placebo;Ezetimibe
21 Colchicine for Acute Coronary Syndromes Unknown status NCT01906749 Phase 4 Colchicine;Placebo
22 Effects of the Ivabradine on Reduction of Inflammatory Markers in Patients With Acute Coronary Syndrome Unknown status NCT00815100 Phase 4 Ivabradine;Placebo
23 Efficacy Evaluation of Surfactant Administration Via Laryngeal Mask Airway Unknown status NCT01173237 Phase 4
24 Study of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
25 Is Microbiota Community Associated With Clinical Response to a Low FODMAP Diet in Patients With Irritable Bowel Syndrome Unknown status NCT02565550 Phase 4
26 A Phase Ⅳ Study of Decitabine in Myelodysplastic Syndrome Unknown status NCT02013102 Phase 4 Decitabine Injection
27 Close Kinect Chain Exercise With Kinesio Taping in the Management of Patellofemoral Pain Syndrome Unknown status NCT02241148 Phase 4 Acetaminophen 500mg
28 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
29 Continuous Positive Airway Pressure in Sleep Apnea Syndrome: Effects on Metabolic Syndrome and Cardiac Damage Unknown status NCT00517777 Phase 4
30 6-Methyl-Prednisolone for Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4 6-methyl-prednisolone
31 Sex Steroids in Sjögren's Syndrome: Effect of Substitution Treatment on Fatigue Unknown status NCT00543166 Phase 4 dehydroepiandrosterone
32 Early CPAP in Respiratory Distress Syndrome Unknown status NCT00368680 Phase 4
33 The Effect of a Diet Based on Low Sodium and Slowly Absorbed Carbohydrates on the Incidence of Refeeding Syndrome in Patients With Head and Neck Cancer Unknown status NCT01845922 Phase 4
34 Fixed-dose vs. Phenotype-based PrAsugrel Dose to MATCH Therapeutic Zone in Asians With Acute Coronary Syndrome Unknown status NCT01951001 Phase 4 Prasugrel
35 Rivaroxaban for Antiphospholipid Antibody Syndrome Unknown status NCT02116036 Phase 4 Rivaroxaban
36 Treatment of the Dumping Syndrome With Lanreotide Autogel® Unknown status NCT00543179 Phase 4 Somatuline (Lanreotide Autogel®)
37 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4 Ranolazine
38 Botulinum A Toxin in the Treatment of Patients With Painful Bladder Syndrome Unknown status NCT01157507 Phase 4 Intravesical injection of Botulinum A Toxin;Placebo
39 The ACT-OUT Trial: ACTivity OUTcomes Based on High Carbohydrate or High Fat Diet in Metabolic Syndrome Unknown status NCT01357382 Phase 4
40 Comparison of the Efficacy and Safety of Tiropramide and Octylonium in the Treatment of Irritable Bowel Syndrome Unknown status NCT01629212 Phase 4 Tiropramide HCl 100mg;Octylonium bromide 20mg
41 Strategies for Ovulation Induction in Anovulatory Infertile Patients With PCOS Unknown status NCT00461643 Phase 4 Clomiphene citrate, metformin, metformin plus clomiphene citrate, gonadotropins
42 Cyclosporine A in the TReatment of Interstitial Pneumonitis Associated With Sjogren's Syndrome Unknown status NCT02370550 Phase 4 Cyclosporin A;Prednisone;Placebo;Calcium carbonate D
43 Study of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia, and Mixed Vascular and Alzheimer’s Dementia Unknown status NCT00229333 Phase 4 Escitalopram
44 A Placebo Controlled Double Masked Clinical Assessment Study of Essential Fatty Acid Supplement and Its Effect on Patients With Apparent Aqueous Deficient Dry Eye Syndrome Unknown status NCT00344721 Phase 4 Essential fatty acid supplement
45 Effect of Rotigotine Patch Treatment on Cardiovascular Markers in Idiopathic Restless Legs Syndrome Unknown status NCT01823770 Phase 4 Rotigotine;Placebo patchs
46 Endometrial Scratching During Laproscopic Ovarian Drilling in Subfertile PCOS Women Unknown status NCT02140398 Phase 4
47 Safety and Efficacy of the Novel Selective Nicotinic Receptor Partial Agonist, CHANTIX (Varenicline) in Patients With Acute Coronary Syndrome Unknown status NCT01170338 Phase 4 Varenicline 100 mg by mouth twice daily;control
48 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4 Gabapentin Enacarbil (GEn);Placebo
49 Validation of Functional Imaging as Predictive Tool for Outcome of Mandibular Replacement Appliance Therapy in Obstructive Sleep Apnea Hypopnea Syndrome Patients Unknown status NCT01524510 Phase 4
50 Pain Relief In Irritable Bowel Syndrome Unknown status NCT02573844 Phase 4 Proklama

Search NIH Clinical Center for Adult Syndrome

Genetic Tests for Adult Syndrome

Genetic tests related to Adult Syndrome:

id Genetic test Affiliating Genes
1 Adult Syndrome 29 24 TP63
2 Acro-Dermato-Ungual-Lacrimal-Tooth (adult) Syndrome 29

Anatomical Context for Adult Syndrome

MalaCards organs/tissues related to Adult Syndrome:

39
Ovary, Eye, Myeloid, Lung, Heart, Bone, Testes

Publications for Adult Syndrome

Articles related to Adult Syndrome:

(show all 21)
id Title Authors Year
1
ADULT syndrome: dental features of a very rare condition. ( 28691455 )
2017
2
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. ( 28293528 )
2016
3
Shaken adult syndrome: report of 2 cases. ( 24077385 )
2013
4
ADULT syndrome due to an R243W mutation in TP63. ( 22607287 )
2012
5
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. ( 21990121 )
2011
6
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. ( 22069181 )
2011
7
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. ( 20814947 )
2010
8
ADULT syndrome caused by a mutation previously associated with EEC syndrome. ( 21078104 )
2010
9
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome. ( 19781362 )
2009
10
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. ( 19530185 )
2009
11
Further phenotypic and genetic variation in ADULT syndrome. ( 17041931 )
2006
12
Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome. ( 16929068 )
2006
13
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. ( 16724007 )
2006
14
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. ( 16114047 )
2005
15
Shaken adult syndrome revisited. ( 12960674 )
2003
16
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. ( 11929852 )
2002
17
TP63 gene mutation in ADULT syndrome. ( 11528512 )
2001
18
ADULT syndrome allelic to limb mammary syndrome (LMS)? ( 10607963 )
2000
19
Domestic violence: the shaken adult syndrome. ( 10718242 )
2000
20
Shaken adult syndrome. ( 9430280 )
1997
21
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. ( 8456838 )
1993

Variations for Adult Syndrome

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

71
id Symbol AA change Variation ID SNP ID
1 TP63 p.Arg337Gln VAR_020875 rs113993967

ClinVar genetic disease variations for Adult Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_001114982.1(TP63): c.16A> C (p.Asn6His) single nucleotide variant Pathogenic rs113993963 GRCh37 Chromosome 3, 189507605: 189507605
2 TP63 NM_003722.4(TP63): c.1010G> A (p.Arg337Gln) single nucleotide variant Pathogenic rs113993967 GRCh37 Chromosome 3, 189586386: 189586386
3 TP63 TP63, VAL114MET single nucleotide variant Pathogenic
4 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh37 Chromosome 3, 189586430: 189586430
5 TP63 NM_003722.4(TP63): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic rs113993966 GRCh37 Chromosome 3, 189586385: 189586385
6 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh37 Chromosome 3, 189584501: 189584501
7 TP63 TP63, PRO127LEU single nucleotide variant Pathogenic
8 TP63 NM_003722.4(TP63): c.1846delC (p.Leu616Serfs) deletion Pathogenic rs113993964 GRCh37 Chromosome 3, 189612094: 189612094
9 TP63 NM_003722.4(TP63): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs113993965 GRCh37 Chromosome 3, 189526254: 189526254
10 TP63 NM_003722.4(TP63): c.1963delC (p.Arg655Glufs) deletion Pathogenic rs797044843 GRCh37 Chromosome 3, 189612211: 189612211

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:

id Super pathways Score Top Affiliating Genes
1 10.6 INS NR3C1
2 10.26 GRB10 INS

GO Terms for Adult Syndrome

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

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

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

id Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor receptor binding GO:0005159 8.96 IGF2 INS
2 insulin receptor binding GO:0005158 8.8 GRB10 IGF2 INS

Sources for Adult Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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