ADULT SYNDROME
MCID: ADL002
MIFTS: 68

Adult Syndrome (ADULT SYNDROME)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Adult Syndrome

MalaCards integrated aliases for Adult Syndrome:

Name: Adult Syndrome 57 11 19 58 75 73 28 12 53 5 14 38 71
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 57 11 19 58 73 75
Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome 58
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 28
Acro Dermato Ungual Lacrimal Tooth Syndrome 19
Adult 16

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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, )


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: 73 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 alcohol use disorder and attention deficit-hyperactivity disorder, 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 Gene expression (Transcription) and Metabolism of proteins. The drug D-Leucine has been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone, and related phenotypes are dry skin and melanocytic nevus

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 08-Dec-2022)

Disease Ontology: 11 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: 19 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.

Orphanet: 58 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.

Wikipedia: 75 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 6816)
# Related Disease Score Top Affiliating Genes
1 alcohol use disorder 31.9 POMC INS IL6 H2AC18
2 attention deficit-hyperactivity disorder 31.8 POMC NR3C1 LEP INS IL6 H2AC18
3 wilms tumor 1 31.8 REN IGF2 IGF1 H2AC18 ESR1
4 neuropathy, hereditary sensory, type ie 31.8 DNMT3B DNMT3A DNMT1
5 laron syndrome 31.7 IGF2 IGF1 ADIPOQ
6 lipodystrophy, familial partial, type 3 31.7 PPARG LEP INS
7 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 31.6 DNMT3B DNMT3A DNMT1
8 nutritional deficiency disease 31.5 LEP IL6 IGF1 H2AC18 ADIPOQ
9 apnea, obstructive sleep 31.5 REN POMC LEP INS IL6 IGF1
10 craniopharyngioma 31.5 INS IL6 IGF1
11 celiac disease 1 31.5 LEP INS IL6 IGF1 H2AC18
12 beta-thalassemia 31.5 LEP INS IL6 IGF1 ESR1
13 fibromyalgia 31.4 POMC LEP INS IL6 IGF1
14 hypogonadotropic hypogonadism 31.4 POMC LEP INS IGF1 ESR1
15 post-traumatic stress disorder 31.4 POMC NR3C1 IL6 H2AC18
16 alpha-thalassemia 31.4 H2AC18 DNMT3B DNMT3A DNMT1
17 respiratory failure 31.4 REN PPARA INS IL6 H2AC18
18 chronic fatigue syndrome 31.4 POMC NR3C1 INS IL6 IGF2 IGF1
19 urinary tract infection 31.4 REN INS IL6 H2AC18
20 lipodystrophy, familial partial, type 2 31.4 PPARG LEP INS ADIPOQ
21 scoliosis 31.3 LEP IL6 IGF1 ESR1 ADIPOQ
22 aromatase excess syndrome 31.3 POMC LEP INS IL6 IGF1 ESR1
23 abdominal obesity-metabolic syndrome 1 31.3 PPARG PPARA LEP INS ADIPOQ
24 tatton-brown-rahman syndrome 31.3 DNMT3B DNMT3A DNMT1
25 substance abuse 31.3 POMC INS IL6 H2AC18
26 disease of mental health 31.3 POMC LEP INS IL6 H2AC18
27 type 1 diabetes mellitus 31.3 LEP INS IL6 IGF2 IGF1 HSD11B2
28 leukemia, acute myeloid 31.3 IL6 H2AC18 ESR1 DNMT3B DNMT3A DNMT1
29 anxiety 31.2 POMC NR3C1 LEP INS IL6 IGF1
30 turner syndrome 31.2 LEP INS IGF2 IGF1
31 major depressive disorder 31.2 POMC NR3C1 LEP INS IL6 ESR1
32 mood disorder 31.2 POMC NR3C1 IL6 H2AC18
33 acquired immunodeficiency syndrome 31.2 POMC NR3C1 IL6 IGF1
34 familial partial lipodystrophy 31.2 PPARG PPARA LEP INS ADIPOQ
35 hypothyroidism 31.2 REN POMC LEP INS IGF1 ADIPOQ
36 cerebrovascular disease 31.2 REN INS IL6 H2AC18
37 eating disorder 31.2 POMC LEP INS IGF1 H2AC18
38 sotos syndrome 31.2 IGF2 IGF1 H2AC18 DNMT3B DNMT3A DNMT1
39 psychotic disorder 31.1 INS IL6 H2AC18 ADIPOQ
40 bowel dysfunction 31.1 POMC INS IL6
41 alcohol dependence 31.1 PPARG PPARA POMC LEP INS H2AC18
42 type 2 diabetes mellitus 31.1 REN PPARG PPARA POMC NR3C1 LEP
43 hypogonadism 31.1 POMC LEP INS IGF1
44 liver disease 31.1 PPARG PPARA LEP INS IL6 ADIPOQ
45 patent ductus arteriosus 1 31.1 REN INS IL6 IGF1
46 lipid storage disease 31.1 PPARG PPARA LEP INS IL6 H2AC18
47 hypokalemia 31.0 REN POMC NR3C1 INS HSD11B2
48 pain agnosia 31.0 POMC INS IL6
49 gastric cancer 31.0 INS IL6 IGF2 IGF1 H2AC18 ESR1
50 inguinal hernia 31.0 POMC INS IL6

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Adult Syndrome:


dry skin

GenomeRNAi Phenotypes related to Adult Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.26 DNMT3B ESR1 IGF2 INS
2 Reduced mammosphere formation GR00396-S 9.17 DNMT3A HSD11B2 IGF1 IGF2 NR3C1 POMC

MGI Mouse Phenotypes related to Adult Syndrome:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.48 ADIPOQ DNMT3A DNMT3B ESR1 HSD11B2 IGF1
2 nervous system MP:0003631 10.47 ADIPOQ DNMT1 DNMT3A DNMT3B ESR1 IGF1
3 growth/size/body region MP:0005378 10.44 ADIPOQ DNMT1 DNMT3A DNMT3B ESR1 IGF1
4 renal/urinary system MP:0005367 10.43 ADIPOQ ESR1 HSD11B2 IGF1 IGF2 IL6
5 muscle MP:0005369 10.42 ADIPOQ DNMT3A ESR1 HSD11B2 IGF1 IGF2
6 cellular MP:0005384 10.38 ADIPOQ DNMT1 DNMT3A DNMT3B ESR1 HSD11B2
7 neoplasm MP:0002006 10.35 ADIPOQ DNMT1 DNMT3B ESR1 HSD11B2 IGF1
8 endocrine/exocrine gland MP:0005379 10.34 ADIPOQ DNMT3A DNMT3B ESR1 IGF1 IGF2
9 cardiovascular system MP:0005385 10.33 ADIPOQ DNMT3B ESR1 HSD11B2 IGF1 IGF2
10 liver/biliary system MP:0005370 10.31 ADIPOQ DNMT3B ESR1 IGF2 IL6 INS
11 behavior/neurological MP:0005386 10.31 ADIPOQ DNMT1 DNMT3A ESR1 HSD11B2 IGF2
12 immune system MP:0005387 10.31 ADIPOQ DNMT1 DNMT3B ESR1 IGF1 IGF2
13 adipose tissue MP:0005375 10.3 ADIPOQ DNMT3A ESR1 IGF1 IL6 INS
14 normal MP:0002873 10.26 DNMT1 ESR1 HSD11B2 IGF1 INS NR3C1
15 no phenotypic analysis MP:0003012 10.25 DNMT1 DNMT3B ESR1 IGF2 INS NR3C1
16 digestive/alimentary MP:0005381 10.19 DNMT1 DNMT3B ESR1 HSD11B2 IGF2 IL6
17 embryo MP:0005380 10.16 DNMT1 DNMT3A DNMT3B ESR1 IGF2 INS
18 reproductive system MP:0005389 10.13 DNMT1 DNMT3A DNMT3B ESR1 IGF1 IGF2
19 skeleton MP:0005390 10.07 ADIPOQ DNMT3A DNMT3B ESR1 IGF1 IGF2
20 hematopoietic system MP:0005397 10.03 ADIPOQ DNMT1 DNMT3A DNMT3B ESR1 IGF1
21 respiratory system MP:0005388 9.97 ADIPOQ ESR1 IGF1 IGF2 IL6 LEP
22 mortality/aging MP:0010768 9.91 ADIPOQ DNMT1 DNMT3A DNMT3B ESR1 HSD11B2
23 integument MP:0010771 9.44 ADIPOQ DNMT1 ESR1 IGF1 IGF2 IL6

Drugs & Therapeutics for Adult Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
D-Leucine Experimental, Investigational, Nutraceutical 328-38-1, 61-90-5 439524 6106

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Feasibility of Upright Bed Position in ARDS Patients Completed NCT02160561
2 PROTein to Enhance outComes of (Pre)Frail paTients Undergoing Cardiac Surgery - The PROTECT-CS Study Recruiting NCT04038294

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 28 TP63
2 Acro-Dermato-Ungual-Lacrimal-Tooth (adult) Syndrome 28

Anatomical Context for Adult Syndrome

Organs/tissues related to Adult Syndrome:

MalaCards : Skin, Breast, Bone, Eye, Bone Marrow, Brain, Spinal Cord

Publications for Adult Syndrome

Articles related to Adult Syndrome:

(show top 50) (show all 30060)
# Title Authors PMID Year
1
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 53 62 57 5
18603493 2008
2
Further phenotypic and genetic variation in ADULT syndrome. 53 62 57 5
17041931 2006
3
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. 53 62 57 5
16724007 2006
4
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. 53 62 57 5
11929852 2002
5
TP63 gene mutation in ADULT syndrome. 53 62 57 5
11528512 2001
6
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. 62 57 5
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. 62 57 5
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 5
11462173 2001
9
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. 62 57
20814947 2010
10
ADULT syndrome allelic to limb mammary syndrome (LMS)? 62 57
10607963 2000
11
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. 62 57
8456838 1993
12
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. 5
21204238 2011
13
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 5
17431922 2007
14
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 5
9443880 1998
15
EEC syndrome and genitourinary anomalies: an update. 5
8737655 1996
16
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome. 53 62
19781362 2009
17
Transcriptional activation of the tumor suppressor and differentiation gene S100A2 by a novel p63-binding site. 53 62
18388131 2008
18
Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression. 53 62
16957482 2006
19
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 53 62
16319531 2006
20
p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly. 53 62
14656652 2004
21
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 53 62
11159940 2001
22
Ultra-processed food consumption and adult obesity risk: a systematic review and dose-response meta-analysis. 62
34190668 2023
23
Adult neurogenesis and the molecular signalling pathways in brain: the role of stem cells in adult hippocampal neurogenesis. 62
33350876 2022
24
Egg protein supplementation improved upper body muscle strength and protein intake in community-dwelling older adult females who attended congregate meal sites or adult learning centers: A pilot randomized controlled trial. 62
34730461 2022
25
A Hospital-Based Online Patients Support Program, Online Adolescent and Young Adult Hiroba, for Adolescent and Young Adult Cancer Patients at a Designated Cancer Center in Japan. 62
35020485 2022
26
Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. 62
35995687 2022
27
Low utilization of adult-to-adult LDLT in Western countries despite excellent outcomes: International multicenter analysis of the US, the UK, and Canada. 62
36170900 2022
28
Use of financial incentives to increase adult vaccination coverage: A narrative review of lessons learned from COVID-19 and other adult vaccination efforts. 62
36217357 2022
29
A survey of adult respiratory and sleep services in Aotearoa New Zealand: inequities in the provision of adult respiratory and sleep services. 62
36455179 2022
30
Canine dimensions for estimation of sex in adult and non-adult individuals with external validation by aDNA. 62
36458990 2022
31
Attention problems and off-topic verbosity among young adult and older adult age cohorts. 62
36469691 2022
32
"I'm an adult now": Health risk behaviors and identifying as an adult. 62
35422145 2022
33
"It's Kind of Complicated": A Qualitative Exploration of Perceived Social Support in Young Adult and Young Adult Lesbian, Gay, Bisexual, Transgender, and/or Queer Cancer Survivors. 62
35166594 2022
34
Impact of a Comprehensive Financial Resource on Financial Toxicity in a National, Multiethnic Sample of Adult, Adolescent/Young Adult, and Pediatric Patients With Cancer. 62
36378994 2022
35
Effect of pediatric- versus adult-type chemotherapy regimens on outcomes of allogeneic hematopoietic stem cell transplants for adult T-cell acute lymphoblastic leukemia in first complete remission. 62
36042299 2022
36
No neonates without adults: A review of adult black soldier fly biology, Hermetia illucens (Diptera: Stratiomyidae): A review of adult black soldier fly biology, Hermetia illucens (Diptera: Stratiomyidae). 62
36382549 2022
37
Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease. 62
36303074 2022
38
Comparison of DNA preservation between adult and non-adult ancient skeletons. 62
36048257 2022
39
Capturing Adult Congenital Heart Disease: Framework for Development of an Adult Congenital Heart Disease Mortality Risk Model. 62
34742732 2022
40
The dimensions underlying first impressions of older adult faces are similar, but not identical, for young and older adult perceivers. 62
35531976 2022
41
Transvenous Lead Extraction in Adult Patient with Leads Implanted in Childhood-Is That the Same Procedure as in Other Adult Patients? 62
36361474 2022
42
Young adult birthday celebrations as windows of risk for alcohol and cannabis use: 21st birthdays compared to other young adult birthdays. 62
34410756 2022
43
Cerebral hemorrhage caused by shaking adult syndrome? Evidence from biomechanical analysis using 3D motion capture and finite element models. 62
36180601 2022
44
Preliminary Findings of Focus Group Analysis to Support the Needs of Adolescent and Young Adult Patients and Survivors of Cancer: Steps Toward a National Adolescent and Young Adult Supportive Care Program. 62
34726505 2022
45
Left liver graft in adult-to-adult living donor liver transplantation with an optimal portal flow modulation strategy to overcome the small-for-size syndrome - A retrospective cohort study. 62
36229018 2022
46
Correction to: Non-credible symptom report in the clinical evaluation of adult ADHD: development and initial validation of a new validity index embedded in the Conners' adult ADHD rating scales. 62
35974247 2022
47
Next-generation sequencing of cerebrospinal fluid for clinical molecular diagnostics in pediatric, adolescent and young adult brain tumor patients. 62
35148412 2022
48
Social factors and the prevalence of social isolation in a population-based adult cohort. 62
34533607 2022
49
Worldwide Healthy Adult Voice Baseline Parameters: A Comprehensive Review. 62
33039203 2022
50
Adult Children's Education and Mothers' Psychological Well-Being: Do Adult Children's Problems Mediate this Relationship? 62
36148556 2022

Variations for Adult Syndrome

ClinVar genetic disease variations for Adult Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP63 TP63, VAL114MET SNV Pathogenic
6546 GRCh37:
GRCh38:
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 NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) SNV Pathogenic
6540 rs113993967 GRCh37: 3:189586386-189586386
GRCh38: 3:189868597-189868597
5 TP63 NM_001114980.2(TP63):c.16A>C (p.Asn6His) SNV Pathogenic
6537 rs113993963 GRCh37: 3:189507605-189507605
GRCh38: 3:189789816-189789816
6 TP63 NM_003722.5(TP63):c.797G>A (p.Arg266Gln) SNV Pathogenic
6550 rs121908849 GRCh37: 3:189584501-189584501
GRCh38: 3:189866712-189866712
7 TP63 NM_003722.5(TP63):c.1350-5670A>G SNV Uncertain Significance
1319322 GRCh37: 3:189598513-189598513
GRCh38: 3:189880724-189880724

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

73
# 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 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 TP63 PPARG PPARA POMC NR3C1 INS
2
Show member pathways
13.66 REN PPARG PPARA POMC NR3C1 LEP
3 13.65 ESR1 H2AC18 IGF1 IGF2 IL6 INS
4
Show member pathways
12.53 PPARG PPARA POMC INS HSD11B2
5 12.36 NR3C1 DNMT3B DNMT3A DNMT1
6
Show member pathways
12.25 PPARG PPARA IGF1 ESR1
7
Show member pathways
12.17 PPARG PPARA NR3C1 ESR1
8
Show member pathways
12.01 LEP INS-IGF2 INS ADIPOQ
9
Show member pathways
12 REN POMC LEP INS IGF1
10 11.95 TP63 INS IL6 IGF1
11
Show member pathways
11.89 PPARG PPARA NR3C1 ESR1
12 11.82 PPARG NR3C1 ESR1
13
Show member pathways
11.77 PPARG PPARA ADIPOQ
14 11.73 LEP IL6 IGF1
15 11.7 POMC NR3C1 IL6
16 11.68 PPARG NR3C1 ESR1
17 11.65 NR3C1 IL6 ESR1
18 11.61 PPARG LEP INS IL6 IGF1 ADIPOQ
19
Show member pathways
11.57 DNMT3B DNMT3A DNMT1
20 11.55 INS IL6 ESR1
21 11.51 IGF1 IGF2 INS
22
Show member pathways
11.49 DNMT3B DNMT3A DNMT1
23 11.45 INS IL6 IGF1
24 11.41 NR3C1 IL6 IGF1
25
Show member pathways
11.38 PPARG NR3C1 INS
26 11.38 ADIPOQ IL6 INS LEP PPARA
27 11.34 PPARG PPARA NR3C1 LEP INS IL6
28 11.07 PPARG LEP ADIPOQ
29 10.98 DNMT3B DNMT3A DNMT1
30 10.93 DNMT3B DNMT3A DNMT1
31 10.91 POMC LEP INS
32 10.77 PPARA ESR1
33 10.76 DNMT3B DNMT3A DNMT1
34 10.7 PPARG NR3C1 LEP IL6 ADIPOQ

GO Terms for Adult Syndrome

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.57 ADIPOQ ESR1 IGF1 IL6 INS INS-IGF2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.53 ESR1 IGF1 IGF2 IL6 NR3C1 POMC
3 negative regulation of gene expression GO:0010629 10.36 PPARG INS IGF1 ESR1 DNMT1
4 positive regulation of gene expression GO:0010628 10.34 SLC38A2 PPARG INS IL6 IGF1 DNMT3B
5 negative regulation of transcription by RNA polymerase II GO:0000122 10.32 DNMT1 DNMT3A DNMT3B ESR1 IGF2 LEP
6 positive regulation of protein kinase B signaling GO:0051897 10.21 LEP INS IGF2 IGF1
7 positive regulation of MAPK cascade GO:0043410 10.18 IGF1 IGF2 IL6 INS LEP
8 response to xenobiotic stimulus GO:0009410 10.16 REN PPARG HSD11B2 DNMT3A ADIPOQ
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 10.15 IL6 IGF2 IGF1 ADIPOQ
10 response to activity GO:0014823 10.14 LEP IL6 ADIPOQ
11 hormone-mediated signaling pathway GO:0009755 10.13 PPARA PPARG REN
12 response to ethanol GO:0045471 10.13 PPARA LEP DNMT3A ADIPOQ
13 regulation of blood pressure GO:0008217 10.13 REN PPARG POMC LEP
14 positive regulation of glucose import GO:0046326 10.08 ADIPOQ IGF1 INS
15 glucose metabolic process GO:0006006 10.06 LEP INS IGF2 ADIPOQ
16 positive regulation of mitotic nuclear division GO:0045840 10.04 INS IGF2 IGF1
17 DNA methylation GO:0006306 10.03 DNMT3B DNMT3A DNMT1
18 positive regulation of insulin receptor signaling pathway GO:0046628 10.01 IGF2 INS LEP
19 DNA methylation involved in embryo development GO:0043045 9.95 DNMT3A DNMT1
20 bone mineralization involved in bone maturation GO:0035630 9.95 LEP IGF1
21 negative regulation of sequestering of triglyceride GO:0010891 9.94 PPARG PPARA
22 positive regulation of glycogen (starch) synthase activity GO:2000467 9.93 IGF2 ADIPOQ
23 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.92 DNMT1 IGF1
24 intracellular receptor signaling pathway GO:0030522 9.92 ESR1 PPARA PPARG
25 negative regulation of miRNA transcription GO:1902894 9.91 PPARG PPARA ESR1
26 positive regulation of glycogen biosynthetic process GO:0045725 9.91 INS IGF2 IGF1
27 cellular response to bisphenol A GO:1903926 9.89 DNMT1 DNMT3A
28 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.88 ADIPOQ PPARA PPARG
29 negative regulation of lipid storage GO:0010888 9.85 PPARG LEP IL6
30 positive regulation of fatty acid oxidation GO:0046321 9.84 PPARG PPARA
31 C-5 methylation of cytosine GO:0090116 9.73 DNMT3B DNMT3A DNMT1
32 cellular response to stimulus GO:0051716 9.63 PPARG PPARA
33 positive regulation of fatty acid metabolic process GO:0045923 9.63 PPARG PPARA ADIPOQ
34 glucose homeostasis GO:0042593 9.4 PPARG POMC LEP INS IL6 ADIPOQ
35 DNA methylation on cytosine GO:0032776 9.26 DNMT3B DNMT3A DNMT1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.39 TP63 PPARG PPARA NR3C1 LEP H2AC18
2 nuclear receptor activity GO:0004879 9.92 PPARG PPARA NR3C1 ESR1
3 steroid binding GO:0005496 9.88 ESR1 HSD11B2 NR3C1
4 transcription coactivator binding GO:0001223 9.85 PPARG PPARA ESR1
5 insulin receptor binding GO:0005158 9.85 INS IGF2 IGF1
6 DNA-methyltransferase activity GO:0009008 9.65 DNMT3B DNMT3A DNMT1
7 DNA (cytosine-5-)-methyltransferase activity GO:0003886 9.63 DNMT1 DNMT3A DNMT3B
8 insulin-like growth factor receptor binding GO:0005159 9.56 IGF1 IGF2 INS REN
9 hormone activity GO:0005179 9.47 POMC LEP INS-IGF2 INS IGF2 IGF1

Sources for Adult Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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