HRM2
MCID: HRM021
MIFTS: 20

Hair Morphology 2 (HRM2)

Categories: Genetic diseases

Aliases & Classifications for Hair Morphology 2

MalaCards integrated aliases for Hair Morphology 2:

Name: Hair Morphology 2 57 13 70
Hair Curvature, Variation in 57
Curly Hair 29
Hrm2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hair morphology 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 139450
MedGen 41 C2697452
SNOMED-CT via HPO 68 225570000 263681008
UMLS 70 C2697452

Summaries for Hair Morphology 2

MalaCards based summary : Hair Morphology 2, also known as hair curvature, variation in, is related to chand syndrome and curly hair-acral keratoderma-caries syndrome. An important gene associated with Hair Morphology 2 is HRM2 (Hair, Curly). Affiliated tissues include skin and heart, and related phenotype is curly hair.

More information from OMIM: 139450

Related Diseases for Hair Morphology 2

Diseases in the Hair Morphology 2 family:

Hair Morphology 1

Diseases related to Hair Morphology 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 chand syndrome 11.6
2 curly hair-acral keratoderma-caries syndrome 11.5
3 giant axonal neuropathy 11.2
4 cardiofaciocutaneous syndrome 1 11.2
5 woolly hair, autosomal dominant 11.2
6 hypotrichosis 8 11.2
7 trichodentoosseous syndrome 11.2
8 familial woolly hair syndrome 11.1
9 hypotrichosis 7 11.0
10 woolly hair, autosomal recessive 3 11.0
11 palmoplantar keratosis 10.3
12 ectodermal dysplasia 10.2
13 alopecia 10.2
14 atrial standstill 1 10.1
15 cleft palate, isolated 10.1
16 oculodentodigital dysplasia 10.1
17 major affective disorder 8 10.1
18 major affective disorder 9 10.1
19 keratosis 10.1
20 bipolar disorder 10.1
21 ankyloblepharon-ectodermal defects-cleft lip/palate 10.0
22 tooth agenesis, selective, 1 10.0
23 scleroderma, familial progressive 10.0
24 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
25 lung cancer 10.0
26 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.0
27 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
28 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0
29 giant axonal neuropathy 1, autosomal recessive 10.0
30 ectodermal dysplasia 1, hypohidrotic, x-linked 10.0
31 ataxia and polyneuropathy, adult-onset 10.0
32 naxos disease 10.0
33 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0
34 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
35 choanal atresia, posterior 10.0
36 nail disorder, nonsyndromic congenital, 9 10.0
37 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
38 congenital hypothyroidism 10.0
39 arrhythmogenic right ventricular cardiomyopathy 10.0
40 tooth agenesis 10.0
41 diffuse alopecia areata 10.0
42 charcot-marie-tooth disease 10.0
43 tooth disease 10.0
44 anhidrosis 10.0
45 dilated cardiomyopathy 10.0
46 hypothyroidism 10.0
47 melanoma 10.0
48 kidney cancer 10.0
49 nail disease 10.0
50 acne 10.0

Graphical network of the top 20 diseases related to Hair Morphology 2:



Diseases related to Hair Morphology 2

Symptoms & Phenotypes for Hair Morphology 2

Human phenotypes related to Hair Morphology 2:

31
# Description HPO Frequency HPO Source Accession
1 curly hair 31 HP:0002212

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hair:
curly hair

Clinical features from OMIM®:

139450 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hair Morphology 2

Search Clinical Trials , NIH Clinical Center for Hair Morphology 2

Genetic Tests for Hair Morphology 2

Genetic tests related to Hair Morphology 2:

# Genetic test Affiliating Genes
1 Curly Hair 29

Anatomical Context for Hair Morphology 2

MalaCards organs/tissues related to Hair Morphology 2:

40
Skin, Heart

Publications for Hair Morphology 2

Articles related to Hair Morphology 2:

(show all 26)
# Title Authors PMID Year
1
Common variants in the trichohyalin gene are associated with straight hair in Europeans. 57
19896111 2009
2
Shape variability and classification of human hair: a worldwide approach. 57
18078200 2007
3
Human hair shape is programmed from the bulb. 57
15840091 2005
4
Current research on ethnic hair. 57
12789163 2003
5
Quantitative hair form variation in seven populations. 57
4713565 1973
6
Stem Cell Factor-Inducible MITF-M Expression in Therapeutics for Acquired Skin Hyperpigmentation. 61
31903124 2020
7
In vitro and in vivo evidence of tyrosinase inhibitory activity of a synthesized (Z)-5-(3-hydroxy-4-methoxybenzylidene)-2-thioxothiazolidin-4-one (5-HMT). 61
30554432 2019
8
Electrotrophic activity and electrosynthetic acetate production by Desulfobacterium autotrophicum HRM2. 61
29753938 2018
9
Attenuation of melanogenesis by Nymphaea nouchali (Burm. f) flower extract through the regulation of cAMP/CREB/MAPKs/MITF and proteasomal degradation of tyrosinase. 61
30224716 2018
10
Evaluation of Antimelanogenic Activity and Mechanism of Galangin in Silico and in Vivo. 61
29311485 2018
11
Skin renewal activity of non-thermal plasma through the activation of β-catenin in keratinocytes. 61
28733577 2017
12
The marine sulfate reducer Desulfobacterium autotrophicum HRM2 can switch between low and high apparent half-saturation constants for dissimilatory sulfate reduction. 61
28158724 2017
13
Differential proteomic analysis of the metabolic network of the marine sulfate-reducer Desulfobacterium autotrophicum HRM2. 61
27701823 2016
14
A genomic view on syntrophic versus non-syntrophic lifestyle in anaerobic fatty acid degrading communities. 61
24973598 2014
15
Characterization of a small molecule inhibitor of melanogenesis that inhibits tyrosinase activity and scavenges nitric oxide (NO). 61
23769841 2013
16
Complete genome, catabolic sub-proteomes and key-metabolites of Desulfobacula toluolica Tol2, a marine, aromatic compound-degrading, sulfate-reducing bacterium. 61
23088741 2013
17
The novel PPAR α/γ dual agonist MHY 966 modulates UVB-induced skin inflammation by inhibiting NF-κB activity. 61
24130794 2013
18
Evaluation of in vitro and in vivo anti-melanogenic activity of a newly synthesized strong tyrosinase inhibitor (E)-3-(2,4 dihydroxybenzylidene)pyrrolidine-2,5-dione (3-DBP). 61
22498140 2012
19
Substrate-dependent regulation of carbon catabolism in marine sulfate-reducing Desulfobacterium autotrophicum HRM2. 61
20110731 2010
20
Genome sequence of Desulfobacterium autotrophicum HRM2, a marine sulfate reducer oxidizing organic carbon completely to carbon dioxide. 61
19187283 2009
21
Evidence that the heme regulatory motifs in heme oxygenase-2 serve as a thiol/disulfide redox switch regulating heme binding. 61
17540772 2007
22
SCH9, a putative protein kinase from Saccharomyces cerevisiae, affects HOT1-stimulated recombination. 61
15349770 2004
23
Comparative usefulness of beat-to-beat QT dispersion and QT interval fluctuations for identifying patients with organic heart disease at risk for ventricular arrhythmias. 61
12547993 2003
24
Physiological response to temperature changes of the marine, sulfate-reducing bacterium Desulfobacterium autotrophicum. 61
19709300 2002
25
Detection of extrachromosomal DNA in Italian isolates of weakly beta-haemolytic human intestinal spirochaetes. 61
9699203 1998
26
Mutations affecting RNA polymerase I-stimulated exchange and rDNA recombination in yeast. 61
2016045 1991

Variations for Hair Morphology 2

Expression for Hair Morphology 2

Search GEO for disease gene expression data for Hair Morphology 2.

Pathways for Hair Morphology 2

GO Terms for Hair Morphology 2

Sources for Hair Morphology 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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