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 dry/squaly skin/exfoliation, tooth shape anomaly and broad nose/nasal bridge. 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
See all sources

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

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, Adipocyte, Spleen, Uterus, Amygdala, Bronchial epithelium, Whole blood, Thymus, B cells, Testis, Cerebellum

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
Increased coherence of white matter fiber tract organization in adults with asperger syndrome: a diffusion tensor imaging study. (24089369)
2013
2
Quality of life in adults with Gilles de la Tourette Syndrome. (22888766)
2012
3
Imaging brain amyloid in nondemented young adults with Down syndrome using Pittsburgh compound B. (23102120)
2012
4
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G&gt;A mutation in the SLC2A10 gene. (22488877)
2012
5
Hemophagocytic syndrome secondary to adult-onset Still's disease but very similar to lymphoma. (22670185)
2012
6
Adult antisocial syndrome with comorbid borderline pathology: association with severe childhood conduct disorder. (22563567)
2012
7
Different association of circulating levels of adipocyte and epidermal fatty acid-binding proteins with metabolic syndrome and coronary atherosclerosis in Chinese adults. (21492859)
2011
8
A case of adult asperger's syndrome previously diagnosed as frontotemporal dementia. (22295264)
2011
9
Histopathological study of pure primary nephrotic syndrome in adolescents and young Moroccan adults. (22026337)
2011
10
Joint protection and physical rehabilitation of the adult with hypermobility syndrome. (21252682)
2011
11
Mental health problems in adults with Williams syndrome. (20025356)
2010
12
Adult onset hypoparathyroidism in a patient with psychiatric illness: a 71 years delayed diagnosis of DiGeorge syndrome. (21293174)
2010
13
Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome. (20354336)
2010
14
Aripiprazole in the pharmacotherapy of Gilles de la Tourette syndrome in adult patients. (18843565)
2009
15
The management of adult growth hormone deficiency syndrome. (18778182)
2008
16
Should nonalcoholic fatty liver disease be included in the definition of metabolic syndrome? A cross-sectional comparison with Adult Treatment Panel III criteria in nonobese nondiabetic subjects. (18056890)
2008
17
Long QT syndrome in adults. (17239714)
2007
18
Testosterone therapy in adult men with androgen deficiency syndromes: an endocrine society clinical practice guideline. (16720669)
2006
19
Distribution and metabolic syndrome correlates of plasma C-reactive protein in biracial (black-white) younger adults: the Bogalusa Heart Study. (16713426)
2006
20
Late-onset fatal Epstein-Barr virus-associated hemophagocytic syndrome following cord blood cell transplantation for adult acute lymphoblastic leukemia. (17189228)
2006
21
Central obesity, the metabolic syndrome, and plasminogen activator inhibitor-1 in young adults. (16293162)
2005
22
Fulminant miliary tuberculosis with adult respiratory distress syndrome undiagnosed until autopsy: a report of 2 cases and review of the literature. (16280410)
2005
23
Multisystem study of 20 older adults with Williams syndrome. (15534874)
2004
24
Hemophagocytic syndrome as a presenting sign of transformation of smoldering to acute adult T-cell leukemia/lymphoma: efficacy of anti-retroviral and interferon therapy. (15164389)
2004
25
Adult onset Fanconi syndrome: extensive tubulo-interstitial lesions and glomerulopathy in the early stage of Chinese herbs nephropathy. (15480910)
2004
26
A case of paraneoplastic syndrome mimicking adult-onset Still's disease. (17143703)
2004
27
Derecruitment of the lung induced by stepwise lowering of positive end-expiratory pressure in patients with adult respiratory distress syndrome. (14580048)
2003
28
Epstein-Barr virus-associated T-lymphoproliferative disease with hemophagocytic syndrome, followed by fatal intestinal B lymphoma in a young adult female with WHIM syndrome. Warts, hypogammaglobulinemia, infections, and myelokathexis. (12224006)
2002
29
Functional analysis of self-injurious behavior in an adult with Lesch-Nyhan syndrome. (11961912)
2002
30
Gold treatment, nephrotic syndrome, and multi-organ failure in a patient with adult onset Still's disease. (11114273)
2001
31
Airway pressure release ventilation increases cardiac performance in patients with acute lung injury/adult respiratory distress syndrome. (11511336)
2001
32
ADULT syndrome allelic to limb mammary syndrome (LMS)? (10607963)
2000
33
Equal symptomatic outcome after antibacterial treatment of acute lower urinary tract infection and the acute urethral syndrome in adult women. (10555247)
1999
34
Resolution of adult respiratory distress syndrome after recovery from fulminant hepatic failure. (10037117)
1999
35
High-affinity growth hormone (GH)-binding protein (GHBP), body fat mass, and insulin-like growth factor-binding protein-3 predict the GHBP response to GH therapy in adult GH deficiency syndrome. (10094106)
1999
36
5q- in a child with refractory anemia with excess blasts: similarities to 5q- syndrome in adults. (9723027)
1998
37
Corticosteroids in late adult respiratory distress syndrome--towards a better use. (9841366)
1998
38
Alveolar macrophages of patients with adult respiratory distress syndrome express high levels of heat shock protein 72 mRNA. (8696981)
1996
39
Tissue factor pathway inhibitor and von Willebrand factor antigen levels in adult respiratory distress syndrome and in a primate model of sepsis. (7881667)
1995
40
Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients. (7560087)
1995
41
Pneumonia complicating adult respiratory distress syndrome. (7768088)
1995
42
Prophylactic treatment in the adult respiratory distress syndrome. (7613495)
1994
43
CD11b/CD18 expression, adherence, and chemotaxis of granulocyte in adult respiratory distress syndrome. (7911707)
1994
44
Computed tomography in established adult respiratory distress syndrome. Correlation with lung injury score. (7988207)
1994
45
Renal function evaluation in an adult female with cat-eye syndrome. (8017487)
1994
46
Adult respiratory distress syndrome: mediators on the run. (7946192)
1994
47
Combined pressure control/high frequency ventilation in adult respiratory distress syndrome and sickle cell anemia. (7988230)
1994
48
A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. (7032774)
1981
49
Fanconi syndrome in adults. A manifestation of a latent form of myeloma. (163583)
1975
50
Adult Fanconi syndrome, amyloidosis and marked kappa-light chain proteinuria. (4571924)
1973

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