MCID: HRN019
MIFTS: 32

Hair-an Syndrome malady

Summaries for Hair-an Syndrome

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Hair-an syndrome is a condition that affects women. it is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans. insulin resistance is a condition in which the body produces insulin but does not use it properly. this causes the pancreas to produce more insulin. high levels of insulin stimulate the ovaries to make too much androgen, leading too excessive  hair growth, acne, and irregular periods. insulin resistance can also lead to diabetes, high blood pressure, heart disease, and excessive growth and darkening of the skin (aconthosis nigricans). women with hair-an may be born with insulin resistance or acquire it over time. last updated: 5/27/2011

MalaCards: Hair-an Syndrome, also known as hyperandrogenism , insulin resistance , and acanthosis nigricans, is related to polycystic ovary syndrome and acanthosis nigricans. An important gene associated with Hair-an Syndrome is INSR (insulin receptor), and among its related pathways are AMPK Enzyme Complex Pathway and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. The compounds palmitate and poly(glu(80)tyr(20)) have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and heart.

Aliases & Classifications for Hair-an Syndrome

Sources:
43NIH Rare Diseases, 61UMLS
See all sources

Aliases & Descriptions:

hair-an syndrome 43 61
hyperandrogenism , insulin resistance , and acanthosis nigricans 43
hyperandrogenic, insulin-resistant acanthosis nigricans syndrome 43


Related Diseases for Hair-an Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the hair disease family:

hair defect with photosensitivity and mental retardation hair-an syndrome

Diseases related to Hair-an Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic ovary syndrome30.7INSR, INS
2acanthosis nigricans30.3INSR, INS
3hyperandrogenism30.1INS, INSR
4ovarian stromal hyperthecosis10.5
5cortisol resistance10.5
6progesterone resistance10.5
7n syndrome10.3
8insulin resistance10.2
9fetal macrosomia10.0INS
10hyperinsulinemic hypoglycemia10.0INS
11amenorrhea10.0INS
12growth hormone deficiency10.0INS
13acromegaly10.0INS
14maturity-onset diabetes of the young10.0INS
15hypogonadism10.0INS
16fatty liver disease10.0INS
17hypothyroidism10.0INS
18werner syndrome10.0INSR
19uremia10.0INSR
20myotonic dystrophy10.0INSR
21hepatoblastoma10.0INSR
22liver cirrhosis10.0INSR
23rabson-mendenhall syndrome10.0INS, INSR
24donohue syndrome10.0INSR, INS
25congenital generalized lipodystrophy type 210.0INSR, INS
26gestational diabetes10.0INSR, INS
27glucose intolerance10.0INSR, INS
28hyperinsulinism10.0INS, INSR
29retinal disease10.0INSR, INS
30lipodystrophy10.0INSR, INS
31type 1 diabetes10.0INSR, INS
32hypertriglyceridemia10.0INSR, INS
33metabolic syndrome x10.0INSR, INS
34hyperthyroidism10.0INSR, INS
35hypoglycemia10.0INSR, INS
36coronary artery disease,10.0INS, INSR
37insulinoma10.0INS, INSR
38hypercholesterolemia10.0INSR, INS
39type 2 diabetes mellitus10.0INS, INSR
40diabetic retinopathy10.0INS, INSR
41primary hyperoxaluria10.0INS, INSR
42cholera10.0INS, INSR
43hyperglycemia10.0INS, INSR
44essential hypertension10.0INSR, INS
45vitiligo10.0
46organic mood syndrome10.0
47estrogen resistance10.0

Graphical network of the top 20 diseases related to Hair-an Syndrome:



Diseases related to hair-an syndrome

Clinical Features for Hair-an Syndrome

Drugs & Therapeutics for Hair-an Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hair-an Syndrome

Drug clinical trials:

Search ClinicalTrials for Hair-an Syndrome

Search NIH Clinical Center for Hair-an Syndrome

Search CenterWatch for Hair-an Syndrome

Genetic Tests for Hair-an Syndrome

Anatomical Context for Hair-an Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Hair-an Syndrome:

33
Brain, Cortex, Heart, Pancreas, Skin, Ovary

Animal Models for Hair-an Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Hair-an Syndrome

Sources:
51PubMed
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Articles related to Hair-an Syndrome:

(show all 47)
idTitleAuthorsYear
1
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. (23918763)
2013
2
Loose anagen hair syndrome in black-haired Indian children. (23937400)
2013
3
Histopathological insights into hair loss in Cronkhite-Canada syndrome: Diffuse anagen-telogen conversion precedes clinical hair loss progression. (23714002)
2013
4
Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome. (23858341)
2013
5
Oliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation. (23952657)
2013
6
Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type. (22890742)
2012
7
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. (22253195)
2012
8
Light microscopic hair shaft analysis in ectodermal dysplasia syndromes. (22084904)
2012
9
Abnormal inner root sheath of the hair follicle in the loose anagen hair syndrome: an ultrastructural study. (21167408)
2011
10
Loose anagen hair syndrome: an underdiagnosed condition in males. (20653870)
2010
11
Poikilodermia, anhidrosis, hairless body, neurogenic muscle atrophy, and recurrent hematuria: a new syndrome? (20179583)
2010
12
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. (20538026)
2010
13
Hair analysis provides a historical record of cortisol levels in Cushing's syndrome. (19609841)
2010
14
Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes. (20596040)
2010
15
Loose anagen hair syndrome. (21712911)
2010
16
Female pattern hair loss in complete androgen insensitivity syndrome. (20128792)
2010
17
Practical guidelines for evaluation of loose anagen hair syndrome. (19841399)
2009
18
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. (19697429)
2009
19
Loose anagen hair syndrome in children of Upper Egypt. (19527333)
2009
20
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. (19291776)
2009
21
Loose anagen hair syndrome: an unusual cause of alopecia of cosmetic importance only. (19735522)
2009
22
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. (19684605)
2009
23
Report of a new case with loose anagen hair syndrome and scanning electron microscopy findings. (18937657)
2008
24
Functional analysis and treatment of chronic hair pulling in a child with cri du chat syndrome: effects on co-occurring thumb sucking. (22477674)
2008
25
Hairy cell leukaemia complicated by anti-MAG paraproteinemic demyelinating neuropathy: resolution of neurological syndrome after cladribrine treatment. (17007925)
2007
26
Development of hairy cell leukemia in a patient with antiphospholipid syndrome. (17439936)
2007
27
Androgen excess disorders in women: the severe insulin-resistant hyperandrogenic syndrome, HAIR-AN. (16435040)
2006
28
Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome? (16531731)
2006
29
A girl with loose anagen hair syndrome and uncombable, spun-glass hair. (15916571)
2005
30
Loose anagen hair syndrome associated with colobomas and dysmorphic features. (15127762)
2004
31
Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study. (11939812)
2002
32
Loose anagen hair syndrome and loose anagen hair. (11939815)
2002
33
Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis. (11601509)
2001
34
Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia. (10720982)
2000
35
Analysis of the peroxisome proliferator activated receptor gamma (PPARgamma) gene in HAIRAN syndrome with obesity. (10762291)
2000
36
Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. (10594751)
1999
37
Noninvasive test for fragile X syndrome, using hair root analysis. (10364521)
1999
38
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. (9021008)
1997
39
Loose anagen hair syndrome mimicking the uncombable hair syndrome. (8646855)
1996
40
An objective measurement of the anchoring strength of anagen hair in an adult with the loose anagen hair syndrome. (8793667)
1996
41
Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi-Shaltout syndrome): clinical and autopsy findings. (8267003)
1993
42
Ancient observations of "uncombable hair syndrome". (8225707)
1993
43
Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome? (8487282)
1993
44
Loose anagen hair syndrome. (1559732)
1992
45
New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. (1554017)
1992
46
Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders: a new syndrome. (2420118)
1985
47
Detection of Lesch-Nyhan syndrome carriers: analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography. (7398108)
1980

Genetic Variations for Hair-an Syndrome

Expression for genes affiliated with Hair-an Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hair-an Syndrome

Search GEO for disease gene expression data for Hair-an Syndrome.

Pathways for genes affiliated with Hair-an Syndrome

Sources:
52QIAGEN, 53R&D Systems, 54Reactome, 30KEGG, 4Cell Signaling Technology, 12EMD Millipore, 38NCBI BioSystems Database, 50PharmGKB
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Pathways related to Hair-an Syndrome according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1INS, INSR
2
Hide members
9.1INSR, INS
39.1INSR, INS
4
Hide members
9.1INSR, INS
59.1INSR, INS
69.1INSR, INS
7
Translation Insulin regulation of translation
Hide members
9.1INS, INSR
8
Hide members
9.1INS, INSR
9
Hide members
9.1INS, INSR
109.1INSR, INS
11
Hide members
9.1INS, INSR
129.1INSR, INS
13
Hide members
9.1INS, INSR
149.1INSR, INS
15
Hide members
9.1INSR, INS
169.1INSR, INS
179.1INSR, INS
18
Transcription Transcription factor Tubby signaling pathways
Hide members
9.1INS, INSR
199.1INS, INSR
209.1INS, INSR
219.1INS, INSR
229.1INSR, INS
23
Hide members
9.1INSR, INS
249.1INS, INSR
25
Hide members
9.1INSR, INS

Compounds for genes affiliated with Hair-an Syndrome

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB
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Compounds related to Hair-an Syndrome according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1palmitate4510.2INS
2poly(glu(80)tyr(20))459.5INS, INSR
3chromium picolinate459.5INS, INSR
4mecasermin45 1110.5INS, INSR
5vanadyl sulfate459.5INS, INSR
6preproinsulin459.5INSR, INS
7moxonidine459.5INS, INSR
8glimepiride45 50 1111.5INS, INSR
9gliclazide45 50 1111.5INS, INSR
10clomiphene citrate459.5INSR, INS
11aicar45 11 2411.5INSR, INS
12alpha lipoic acid459.5INS, INSR
13streptozotocin459.5INSR, INS
14fenofibrate45 50 1111.5INS, INSR
15glibenclamide45 29 50 6012.5INSR, INS
162-deoxyglucose45 1110.5INS, INSR
17octreotide45 60 29 1112.4INSR, INS
18metformin45 50 1111.4INSR, INS
19c-peptide459.4INSR, INS
20pioglitazone45 50 29 1112.4INS, INSR
21hydrocortisone45 2 60 1112.4INSR, INS
22rosiglitazone45 50 29 11 2413.4INSR, INS
23troglitazone45 29 60 1112.4INS, INSR
24ibmx45 29 6011.3INSR, INS
25carbohydrates459.3INSR, INS
26thyroxine45 2410.3INSR, INS
27glycerol45 11 2411.2INS, INSR
28epinephrine45 11 2411.2INS, INSR
29rapamycin459.1INS, INSR
30glycogen45 2410.1INSR, INS
31ly294002459.0INS, INSR
32wortmannin458.8INS, INSR

GO Terms for genes affiliated with Hair-an Syndrome

Sources:
16Gene Ontology
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Biological processes related to Hair-an Syndrome according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of respiratory burstGO:0602679.4INS, INSR
2positive regulation of glycolysisGO:0458219.4INSR, INS
3positive regulation of glycogen biosynthetic processGO:0457259.4INSR, INS
4activation of protein kinase B activityGO:0321489.4INS, INSR
5positive regulation of mitosisGO:0458409.4INS, INSR
6positive regulation of glucose importGO:0463269.4INS, INSR
7positive regulation of nitric oxide biosynthetic processGO:0454299.3INS, INSR
8positive regulation of DNA replicationGO:0457409.3INS, INSR
9positive regulation of MAPK cascadeGO:0434109.3INS, INSR
10positive regulation of protein kinase B signaling cascadeGO:0518979.2INS, INSR
11glucose homeostasisGO:0425939.2INSR, INS
12positive regulation of cell migrationGO:0303359.1INS, INSR
13positive regulation of cell proliferationGO:0082849.1INS, INSR
14insulin receptor signaling pathwayGO:0082869.0INSR, INS
15G-protein coupled receptor signaling pathwayGO:0071868.8INS, INSR

Molecular functions related to Hair-an Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:0051599.1INSR, INS

Products for genes affiliated with Hair-an Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hair-an Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet