Aliases & Classifications for Hypotrichosis 6

MalaCards integrated aliases for Hypotrichosis 6:

Name: Hypotrichosis 6 57 12 75 29 6 15 73
Hypotrichosis, Localized, Autosomal Recessive 57 13 55
Monilethrix-Like Hypotrichosis 57 12 75
Hypt6 57 12 75
Lah1 57 12 75
Hypotrichosis, Localized, Autosomal Recessive 1 57 12
Lah 57 75
Htl 57 75
Hypotrichosis, Localized, Autosomal Recessive 1; Lah1 57
Hypotrichosis, Localized, Autosomal Recessive; Lah 57
Hypotrichosis Localized Autosomal Recessive 1 75
Autosomal Recessive Localized Hypotrichosis 12
Hypotrichosis Localized Autosomal Recessive 75
Localized Autosomal Recessive Hypotrichosis 37
Hypotrichosis, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypotrichosis 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypotrichosis 6

OMIM : 57 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. 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, and related phenotypes are pruritus and hypotrichosis

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

UniProtKB/Swiss-Prot : 75 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:

57
Skin Nails Hair Skin:
follicular hyperkeratosis of occipital scalp, nape of neck, and extensor surfaces of upper limbs
erythema in affected areas
pruritus in affected areas

Skin Nails Hair Skin Electron Microscopy:
elliptical nodes (in some patients)
trichoschisis (in some patients)
pili torti (in some patients)
tapered hair

Skin Nails Hair Skin Histology:
abnormal hair follicles with thin, atrophic shafts
hair shafts often coiled within skin
marked swelling of precortical region

Skin Nails Hair Hair:
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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 hypotrichosis 32 HP:0001006
3 erythema 32 HP:0010783
4 sparse eyelashes 32 HP:0000653
5 pili torti 32 occasional (7.5%) HP:0003777
6 brittle hair 32 HP:0002299
7 follicular hyperkeratosis 32 HP:0007502
8 sparse and thin eyebrow 32 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 29 DSG4

Anatomical Context for Hypotrichosis 6

MalaCards organs/tissues related to Hypotrichosis 6:

41
Skin

Publications for Hypotrichosis 6

Articles related to Hypotrichosis 6:

# 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
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH). ( 25429336 )
2014
3
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. ( 21537821 )
2011
4
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. ( 17392831 )
2007
5
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ( 16543896 )
2006
6
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ( 16575393 )
2006
7
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 16297213 )
2005
8
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. ( 16382669 )
2005
9
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 15304105 )
2004

Variations for Hypotrichosis 6

ClinVar genetic disease variations for Hypotrichosis 6:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSG4 NM_177986.4(DSG4): c.800C> G (p.Pro267Arg) single nucleotide variant Pathogenic rs267606776 GRCh38 Chromosome 18, 31391193: 31391193
2 DSG4 DSG4, 1-BP DEL, 763T deletion Pathogenic
3 DSG4 NM_177986.4(DSG4): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs267606777 GRCh37 Chromosome 18, 28972163: 28972163
4 DSG4 NM_177986.4(DSG4): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs267606777 GRCh38 Chromosome 18, 31392200: 31392200
5 DSG4 DSG4, EX5-8DEL deletion Pathogenic
6 DSG4 DSG4, 1-BP DEL, 87G deletion Pathogenic
7 DSG4 NM_177986.4(DSG4): c.574T> C (p.Ser192Pro) single nucleotide variant Pathogenic rs267606775 GRCh37 Chromosome 18, 28970675: 28970675
8 DSG4 NM_177986.4(DSG4): c.574T> C (p.Ser192Pro) single nucleotide variant Pathogenic rs267606775 GRCh38 Chromosome 18, 31390712: 31390712
9 DSG4 NM_177986.4(DSG4): c.2038dupT (p.Ser680Phefs) duplication Pathogenic rs786200875 GRCh38 Chromosome 18, 31409556: 31409556
10 DSG4 NM_177986.4(DSG4): c.2038dupT (p.Ser680Phefs) duplication Pathogenic rs786200875 GRCh37 Chromosome 18, 28989519: 28989519
11 DSG4 DSG4, IVS3, G-T, +1 single nucleotide variant Pathogenic
12 DSG4 NM_177986.4(DSG4): c.800C> G (p.Pro267Arg) single nucleotide variant Pathogenic rs267606776 GRCh37 Chromosome 18, 28971156: 28971156

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:

37
# 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 cornification GO:0070268 8.62 DSG4 KRT74

Sources for Hypotrichosis 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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