Aliases & Classifications for Hypotrichosis 6

MalaCards integrated aliases for Hypotrichosis 6:

Name: Hypotrichosis 6 53 12 71 28 14 69
Hypotrichosis, Localized, Autosomal Recessive 53 13 51
Monilethrix-Like Hypotrichosis 53 12 71
Hypt6 53 12 71
Lah1 53 12 71
Hypotrichosis, Localized, Autosomal Recessive 1 53 12
Lah 53 71
Htl 53 71
Hypotrichosis, Localized, Autosomal Recessive 1; Lah1 53
Hypotrichosis, Localized, Autosomal Recessive; Lah 53
Hypotrichosis Localized Autosomal Recessive 1 71
Autosomal Recessive Localized Hypotrichosis 12
Hypotrichosis Localized Autosomal Recessive 71
Localized Autosomal Recessive Hypotrichosis 36

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
hypotrichosis 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypotrichosis 6

OMIM : 53 Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006). (607903)

MalaCards based summary : Hypotrichosis 6, also known as hypotrichosis, localized, autosomal recessive, is related to hypotrichosis 7 and hypotrichosis 8, and has symptoms including pruritus, hypotrichosis and erythema. An important gene associated with Hypotrichosis 6 is DSG4 (Desmoglein 4), and among its related pathways/superpathways are Endocrine and other factor-regulated calcium reabsorption and Mineral absorption. Affiliated tissues include skin.

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal recessive mutation of DSG4 on chromosome 18q12.1.

UniProtKB/Swiss-Prot : 71 Hypotrichosis 6: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed.

Related Diseases for Hypotrichosis 6

Graphical network of the top 20 diseases related to Hypotrichosis 6:



Diseases related to Hypotrichosis 6

Symptoms & Phenotypes for Hypotrichosis 6

Symptoms via clinical synopsis from OMIM:

53
SkinNailsHairSkin:
follicular hyperkeratosis of occipital scalp, nape of neck, and extensor surfaces of upper limbs
erythema in affected areas
pruritus in affected areas

SkinNailsHairSkinElectronMicroscopy:
elliptical nodes (in some patients)
trichoschisis (in some patients)
pili torti (in some patients)
tapered hair

SkinNailsHairSkinHistology:
abnormal hair follicles with thin, atrophic shafts
hair shafts often coiled within skin
marked swelling of precortical region

SkinNailsHairHair:
fragile hair that breaks easily
short, sparse hair on scalp
eyebrows and eyelashes may be sparse
beard, axillary, and pubic hair usually normal


Clinical features from OMIM:

607903

Human phenotypes related to Hypotrichosis 6:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pruritus 31 HP:0000989
2 hypotrichosis 31 HP:0001006
3 erythema 31 HP:0010783
4 sparse eyelashes 31 HP:0000653
5 pili torti 31 occasional (7.5%) HP:0003777
6 brittle hair 31 HP:0002299
7 follicular hyperkeratosis 31 HP:0007502
8 sparse and thin eyebrow 31 HP:0000535

Drugs & Therapeutics for Hypotrichosis 6

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 6

Genetic Tests for Hypotrichosis 6

Genetic tests related to Hypotrichosis 6:

# Genetic test Affiliating Genes
1 Hypotrichosis 6 28 DSG4

Anatomical Context for Hypotrichosis 6

MalaCards organs/tissues related to Hypotrichosis 6:

38
Skin

Publications for Hypotrichosis 6

Articles related to Hypotrichosis 6:

(show all 13)
# Title Authors Year
1
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
2
Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy. ( 26096762 )
2015
3
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH). ( 25429336 )
2014
4
Lymphoma-associated hemophagocytic syndrome (LAHS) in advanced-stage mycosis fungoides/SAczary syndrome cutaneous T-cell lymphoma. ( 21550694 )
2011
5
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. ( 21537821 )
2011
6
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. ( 17392831 )
2007
7
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ( 16575393 )
2006
8
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ( 16543896 )
2006
9
Authors' voluntary retraction: H. Wilkie, A. Osei-Lah, B. Chioza, L. Nashef, D. McCormick, P. Asherson, and A.J. Makoff: Association of the mu-opioid receptor subunit gene and idiopathic generalized epilepsy. Neurology 2002;59:724-728. ( 15699410 )
2005
10
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 16297213 )
2005
11
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. ( 16382669 )
2005
12
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 15304105 )
2004
13
Netherton syndrome is not linked to 18q12, a region homologous to the murine lanceolate hair (lah) locus. ( 10745035 )
2000

Variations for Hypotrichosis 6

ClinVar genetic disease variations for Hypotrichosis 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DSG4 DSG4, EX5-8DEL deletion Pathogenic
2 DSG4 DSG4, 1-BP DEL, 87G deletion Pathogenic
3 DSG4 NM_177986.4(DSG4): c.574T> C (p.Ser192Pro) single nucleotide variant Pathogenic rs267606775 GRCh37 Chromosome 18, 28970675: 28970675
4 DSG4 NM_177986.4(DSG4): c.2038dupT (p.Ser680Phefs) duplication Pathogenic rs786200875 GRCh38 Chromosome 18, 31409556: 31409556
5 DSG4 DSG4, IVS3, G-T, +1 single nucleotide variant Pathogenic
6 DSG4 NM_177986.4(DSG4): c.800C> G (p.Pro267Arg) single nucleotide variant Pathogenic rs267606776 GRCh37 Chromosome 18, 28971156: 28971156
7 DSG4 DSG4, 1-BP DEL, 763T deletion Pathogenic
8 DSG4 NM_177986.4(DSG4): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs267606777 GRCh37 Chromosome 18, 28972163: 28972163

Expression for Hypotrichosis 6

Search GEO for disease gene expression data for Hypotrichosis 6.

Pathways for Hypotrichosis 6

Pathways related to Hypotrichosis 6 according to KEGG:

36
# Name Kegg Source Accession
1 Endocrine and other factor-regulated calcium reabsorption hsa04961
2 Mineral absorption hsa04978

GO Terms for Hypotrichosis 6

Cellular components related to Hypotrichosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.8 CYP2C18 LPAR6 SNCA

Biological processes related to Hypotrichosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 8.96 DSG4 KRT74
2 cornification GO:0070268 8.62 DSG4 KRT74

Sources for Hypotrichosis 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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