MCID: ADL002
MIFTS: 52

Adult Syndrome malady

Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Adult Syndrome

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Sources:
8Disease Ontology, 46OMIM, 32MalaCards
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Disease Ontology:8 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.

MalaCards: Adult Syndrome, also known as acro-dermato-ungual-lacrimal-tooth syndrome, is related to cleft palate and actinic keratosis, and has symptoms including excessive freckling, pigmented naevi/naevus pigmentosus/lentigo and thin skin. An important gene associated with Adult Syndrome is TP63 (tumor protein p63). Affiliated tissues include lung, breast and skin, and related mouse phenotype craniofacial.

Description from OMIM:46 103285

Aliases & Classifications for Adult Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
adult syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

adult syndrome 8 9 42 20 22 46 10 44 48 60
acro-dermato-ungual-lacrimal-tooth syndrome 8 42 48
acro dermato ungual lacrimal tooth syndrome 42
pigment anomaly - ectrodactyly - hypodontia 48


External Ids:

Disease Ontology8 DOID:0050601
OMIM46 103285
MESH via Orphanet35 C538052
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet61 C1863204
ICD1025 M83.9

Related Diseases for Adult Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Adult Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cleft palate29.6PVRL1, TP63
2actinic keratosis10.0TP63

Clinical Features for Adult Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

103285

Clinical synopsis from OMIM:

103285

Symptoms:

48 (show all 22)
  • excessive freckling
  • pigmented naevi/naevus pigmentosus/lentigo
  • thin skin
  • chronic skin infection/ulcerations/ulcers/cancrum
  • dry/squaly skin/exfoliation
  • syndactyly of toes
  • oligodactyly/ectrodactyly of toes
  • syndactyly of fingers/interdigital palm
  • anomalies of teeth and dentition
  • fine hair
  • nails anomalies
  • dysplastic/thick/grooved fingernails
  • high nasal bridge
  • broad nose/nasal bridge
  • face/facial anomalies
  • alopecia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • hypoplastic/absent nipples
  • breast tissue/mammary gland absence/aplasia
  • tooth shape anomaly
  • dysplastic/thick/grooved toenails
  • anomalies of eyelids, eyelashes and lacrimal system

Drugs & Therapeutics for Adult Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Adult Syndrome

Drug clinical trials:

Search ClinicalTrials for Adult Syndrome

Search NIH Clinical Center for Adult Syndrome

Search CenterWatch for Adult Syndrome

Genetic Tests for Adult Syndrome

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Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Adult Syndrome:

id Genetic test Affiliating Genes
1 Adult Syndrome20 22 TP63

Anatomical Context for Adult Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Adult Syndrome:

32
Lung, Breast, Skin, Bone, Heart, Brain, Testes, T cells, Kidney, Liver, Ovary, Eye, Bone marrow, Endothelial, Myeloid, Thyroid, Spinal cord, Pituitary, Monocytes, Lymph node, Skeletal muscle, Thymus, Amygdala, B cells, Testis, Cerebellum, Uterus, Adipocyte, Spleen, Whole blood, Bronchial epithelium

Animal Models for Adult Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Adult Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0TP63, TBX3, L1CAM, PVRL1

Publications for Adult Syndrome

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Sources:
50PubMed
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Articles related to Adult Syndrome:

(show top 50)    (show all 1994)
idTitleAuthorsYear
1
Six-minute walk test distance and resting oxygen saturations but not functional class predict outcome in adult patients with Eisenmenger syndrome. (23962785)
2013
2
Bridges and barriers to successful transitioning as perceived by adolescents and young adults with Asperger syndrome. (23541737)
2013
3
Vitamin serum level variations between cycles of intermittent parenteral nutrition in adult patients with short bowel syndrome. (22457422)
2013
4
Is body mass index a useful measure of excess body fatness in adolescents and young adults with Down syndrome? (22974061)
2013
5
Serotonin syndrome-muscle rigidity and confusion in the older adult. (22079646)
2012
6
A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population. (22162372)
2012
7
Treatment of moyamoya syndrome associated with systemic lupus erythematosus and hypothyroidism in an adult by encephaloduroarteriosynangiosis: a case report. (22966233)
2012
8
Scimitar syndrome and azygos continuation of the inferior vena cava diagnosed in an adult--an unusual association. (22469461)
2012
9
Treatment of adult short bowel syndrome patients with teduglutide. (22224470)
2012
10
Segmental reversal of the small bowel can end permanent parenteral nutrition dependency: an experience of 38 adults with short bowel syndrome. (23095617)
2012
11
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. (21834047)
2011
12
Ischemic stroke in a young adult with Turner syndrome. (21153600)
2011
13
Complex regional pain syndrome in adults: concise guidance. (22268318)
2011
14
Intestinal lengthening in adult patients with short bowel syndrome. (20734155)
2010
15
Cost-utility of exercise therapy in adolescents and young adults suffering from the patellofemoral pain syndrome. (19706002)
2010
16
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. (20814947)
2010
17
Oxidative stress and cognitive ability in adults with Down syndrome. (18983885)
2009
18
Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. (18646052)
2009
19
Role of enteral nutrition in adult short bowel syndrome undergoing intestinal rehabilitation: the long-term outcome. (19713173)
2009
20
Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome. (19876900)
2009
21
Dandy-Walker syndrome in adult mimicking myasthenia gravis. (17420852)
2007
22
Complex regional pain syndrome after solitary adult myofibroma excision. (17659013)
2007
23
The incidence of adult respiratory distress syndrome in patients undergoing off-pump coronary artery bypass grafting surgery. (16390572)
2006
24
Taurine status and response to intravenous taurine supplementation in adults with short-bowel syndrome undergoing long-term parenteral nutrition: a pilot study. (16923232)
2006
25
Outcome in high-functioning adults with autism with and without early language delays: implications for the differentiation between autism and Asperger syndrome. (12708575)
2003
26
Adult respiratory distress syndrome among blunt and penetrating trauma patients: demographics, mortality, and resource utilization over 8 years. (11481598)
2001
27
Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. (11246713)
2001
28
Adult respiratory distress syndrome occurring in two patients undergoing cytoreductive surgery plus perioperative intraperitoneal chemotherapy: case reports and a review of the literature. (11090013)
2000
29
Protective effects of N-acetylcysteine and rutin on the lipid peroxidation of the lung epithelium during the adult respiratory distress syndrome. (10638663)
2000
30
Oxidative stress status in adults with nephrotic syndrome. (10749294)
2000
31
Regional distribution of gas and tissue in acute respiratory distress syndrome. III. Consequences for the effects of positive end-expiratory pressure. CT Scan ARDS Study Group. Adult Respiratory Distress Syndrome. (11089745)
2000
32
Toxic shock syndrome in adult burns. (10563695)
1999
33
Meier-Gorlin syndrome: the adult phenotype. (9690002)
1998
34
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy. (9598731)
1998
35
Variability of indices of hypoxemia in adult respiratory distress syndrome. (8989174)
1997
36
Cognitive deficits in nonretarded adults with fetal alcohol syndrome. (9364906)
1997
37
Serological findings in patients with acute syndromes fulfilling the proposed criteria of adult onset Still's disease. (9385343)
1997
38
Anti-IL-8 autoantibodies in alveolar fluid from patients with the adult respiratory distress syndrome. (8805676)
1996
39
The effects of long-term prone positioning in patients with trauma-induced adult respiratory distress syndrome. (8942587)
1996
40
High concentrations of interleukin-8 in bronchoalveolar lavage fluid from a patient with adult respiratory distress syndrome]. (8753113)
1996
41
Hypothermia induced by continuous arteriovenous hemofiltration as a treatment for adult respiratory distress syndrome: a case report. (8656459)
1996
42
Effects of positive end-expiratory pressure on regional distribution of tidal volume and recruitment in adult respiratory distress syndrome. (7767524)
1995
43
Extracorporeal membrane oxygenation therapy for adult respiratory distress syndrome developing post liver transplantation. (8066732)
1994
44
Oxidative damage to plasma proteins in adult respiratory distress syndrome. (8069386)
1994
45
Respiratory mechanics and bronchodilator responsiveness in patients with the adult respiratory distress syndrome. (8420734)
1993
46
Fatal virus-associated hemophagocytic syndrome in a young adult producing nontraumatic splenic rupture. (1402765)
1992
47
Increased serum catalase activity in septic patients with the adult respiratory distress syndrome. (1416429)
1992
48
Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. (2334532)
1990
49
Pallister-Killian mosaic syndrome with emphasis on the adult phenotype. (3239576)
1988
50
The subclavian steal syndrome; clinical and angiographic considerations in 74 cases in adults. (5901065)
1966

Genetic Variations for Adult Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Adult Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TP63p.Arg337GlnVAR_020875

Expression for genes affiliated with Adult Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adult Syndrome

Search GEO for disease gene expression data for Adult Syndrome.

Pathways for genes affiliated with Adult Syndrome

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Compounds for genes affiliated with Adult Syndrome

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GO Terms for genes affiliated with Adult Syndrome

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Sources:
16Gene Ontology
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Biological processes related to Adult Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heterophilic cell-cell adhesionGO:0071579.7L1CAM, PVRL1
2cell agingGO:0075699.5TP63, TBX3

Products for genes affiliated with Adult Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adult Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet