HYPT8
MCID: HYP559
MIFTS: 39

Hypotrichosis 8 (HYPT8)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Hypotrichosis 8

MalaCards integrated aliases for Hypotrichosis 8:

Name: Hypotrichosis 8 57 11 73 28 5 14 71
Hypt8 57 11 73
Lah3 57 11 73
Woolly Hair, Autosomal Recessive 1, with or Without Hypotrichosis 57 71
Autosomal Recessive Woolly Hair 1, with or Without Hypotrichosis 28 5
Hypotrichosis, Localized, Autosomal Recessive 3 57 11
Woolly Hair Autosomal Recessive 1 with or Without Hypotrichosis 73
Hypotrichosis Localized Autosomal Recessive 3 73
Hypotrichosis, Type 8 38
Arwh1 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype within families ranging from woolly hair to hypotrichosis


Classifications:



External Ids:

Disease Ontology 11 DOID:0110705
OMIM® 57 278150
OMIM Phenotypic Series 57 PS605389
UMLS 71 C1848435 C3279470

Summaries for Hypotrichosis 8

OMIM®: 57 Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) 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 (summary by Schaffer et al., 2006). Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011). Woolly hair is also a feature of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (601214) (Carvajal-Huerta, 1998). (278150) (Updated 08-Dec-2022)

MalaCards based summary: Hypotrichosis 8, also known as hypt8, is related to hypotrichosis 1 and hypotrichosis simplex. An important gene associated with Hypotrichosis 8 is LPAR6 (Lysophosphatidic Acid Receptor 6), and among its related pathways/superpathways are Nervous system development and Keratinization. Related phenotypes are sparse scalp hair and woolly hair

UniProtKB/Swiss-Prot 73 Hypotrichosis 8: 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. HYPT8 inheritance is autosomal recessive.

Woolly hair autosomal recessive 1 with or without hypotrichosis: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals exhibit features of hypotrichosis.

Disease Ontology: 11 A hypotrichosis has material basis in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2.

Related Diseases for Hypotrichosis 8

Diseases in the Hypotrichosis family:

Hypotrichosis 2 Hypotrichosis 4
Hypotrichosis 8 Hypotrichosis 7
Hypotrichosis 1 Hypotrichosis 6
Hypotrichosis 5 Hypotrichosis 3
Hypotrichosis 9 Hypotrichosis 10
Hypotrichosis 11 Hypotrichosis 12
Hypotrichosis 13 Hypotrichosis 14

Diseases related to Hypotrichosis 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 31.9 LIPH KRT74
2 hypotrichosis simplex 29.8 SNRPE LPAR6 LIPH DSG4
3 hypotrichosis 7 29.5 SNRPE LPAR6 LIPH KRT74 KRT25 DSG4
4 hair disease 28.8 LPAR6 LIPH KRT83 KRT74 KRT71 DSG4
5 hypotrichosis 28.7 SNRPE LPAR6 LIPH KRT83 KRT74 KRT71
6 hypotrichosis 6 28.6 SNRPE LPAR6 LIPH KRT85 KRT83 KRT74
7 familial woolly hair syndrome 28.2 LPAR6 LIPH KRT85 KRT83 KRT74 KRT71
8 woolly hair, autosomal recessive 3 10.1 LPAR6 LIPH KRT25
9 hypotrichosis simplex of the scalp 10.1 KRT74 CDSN
10 mucinoses 10.0 KRT74 KRT71
11 nonsyndromic congenital nail disorder 10.0 KRT74 KRT71
12 nail disorder, nonsyndromic congenital, 4 10.0 KRT74 KRT71
13 ectodermal dysplasia 9, hair/nail type 10.0 KRT85 KRT74
14 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 9.9
15 alopecia 9.9
16 impetigo 9.9 SERPINA3 DSG4
17 ectodermal dysplasia 6, hair/nail type 9.9 KRT85 KRT74 DSG4
18 ectodermal dysplasia 5, hair/nail type 9.9 KRT85 KRT74 DSG4
19 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 9.9 DSG4 CDSN CDH15
20 ectodermal dysplasia 7, hair/nail type 9.9 KRT85 KRT74 DSG4
21 hypotrichosis 3 9.9 LPAR6 LIPH KRT74 KRT71
22 white sponge nevus 1 9.8 KRT85 KRT74
23 dermatopathia pigmentosa reticularis 9.8 KRT85 KRT83
24 alopecia, neurologic defects, and endocrinopathy syndrome 9.7 SNRPE RBM28
25 hypotrichosis 4 9.7 SNRPE LPAR6 LIPH KRT74 KRT71
26 hypotrichosis, congenital, with juvenile macular dystrophy 9.7 LPAR6 LIPH DSG4 CDSN CDH15
27 naegeli-franceschetti-jadassohn syndrome 9.7 KRT85 KRT83 KRT74 KRT25
28 atrichia with papular lesions 9.5 LPAR6 LIPH KRT83 KRT74 DSG4 CDSN
29 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.5 KRT85 KRT83 KRT74 KRT71
30 woolly hair, autosomal dominant 9.5 LPAR6 LIPH KRT85 KRT74 KRT71 KRT25
31 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.4 LPAR6 LIPH KRT71 DSG4 CDSN CDH15
32 hypotrichosis 2 9.3 LPAR6 LIPH KRT83 KRT74 DSG4 CDSN
33 hypotrichosis 13 9.3 SNRPE LPAR6 LIPH KRT74 KRT71 KRT25
34 ectodermal dysplasia 4, hair/nail type 9.2 LPAR6 LIPH KRT85 KRT83 KRT74 KRT71
35 hypotrichosis 11 9.0 SNRPE RBM28 LPAR6 LIPH KRT74 DSG4
36 monilethrix 8.9 LPAR6 LIPH KRT85 KRT83 KRT74 KRT71

Graphical network of the top 20 diseases related to Hypotrichosis 8:



Diseases related to Hypotrichosis 8

Symptoms & Phenotypes for Hypotrichosis 8

Human phenotypes related to Hypotrichosis 8:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse scalp hair 30 Occasional (7.5%) HP:0002209
2 woolly hair 30 Occasional (7.5%) HP:0002224
3 sparse eyelashes 30 Occasional (7.5%) HP:0000653
4 nail pits 30 Occasional (7.5%) HP:0001803
5 sparse axillary hair 30 Occasional (7.5%) HP:0002215
6 ridged nail 30 Occasional (7.5%) HP:0001807
7 dry hair 30 Occasional (7.5%) HP:0011359
8 coarse hair 30 HP:0002208
9 sparse hair 30 HP:0008070
10 sparse eyebrow 30 HP:0045075
11 comedo 30 HP:0025249
12 fair hair 30 HP:0002286

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Teeth:
normal teeth

Skin Nails Hair Hair:
sparse scalp hair (in some patients)
twisted hair shaft
tapered distal end of hair
absent root sheath components in bulb portion of plucked hair
comedo-like remnant hair follicles
more
Skin Nails Hair Skin Histology:
absent root sheath components in bulb portion of plucked hair
comedo-like remnant hair follicles

Skin Nails Hair Skin:
normal sweating

Head And Neck Eyes:
sparse eyebrows (in some patients)
sparse eyelashes (in some patients)

Skin Nails Hair Nails:
normal nails (in most patients)
pitted nails (rare)
longitudinal ridging (rare)

Clinical features from OMIM®:

278150 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 CDH15 CDSN DSG4 GLDN KRT25 KRT71
2 no effect GR00402-S-2 10.14 CDH15 CDSN GLDN KRT25 KRT71 KRT74

Drugs & Therapeutics for Hypotrichosis 8

Search Clinical Trials, NIH Clinical Center for Hypotrichosis 8

Genetic Tests for Hypotrichosis 8

Genetic tests related to Hypotrichosis 8:

# Genetic test Affiliating Genes
1 Autosomal Recessive Woolly Hair 1, with or Without Hypotrichosis 28
2 Hypotrichosis 8 28 LPAR6

Anatomical Context for Hypotrichosis 8

Publications for Hypotrichosis 8

Articles related to Hypotrichosis 8:

(show all 18)
# Title Authors PMID Year
1
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 62 57 5
18461368 2008
2
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. 57 5
21426374 2011
3
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. 57 5
21070332 2011
4
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 57 5
18297072 2008
5
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 57 5
18297070 2008
6
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. 62 57
17594396 2007
7
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 5
26160856 2015
8
In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. 5
25119526 2014
9
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. 57
19365138 2009
10
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. 57
16543896 2006
11
Hereditary hypotrichosis simplex: report of a family. 57
12472539 2002
12
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. 57
9738775 1998
13
Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies. 62
33988877 2021
14
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. 62
27472364 2016
15
A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. 62
22531990 2012
16
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. 62
19292720 2009
17
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). 62
19167195 2009
18
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 62
18445047 2008

Variations for Hypotrichosis 8

ClinVar genetic disease variations for Hypotrichosis 8:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT25 NM_181534.4(KRT25):c.950T>C (p.Leu317Pro) SNV Pathogenic
217303 rs766783183 GRCh37: 17:38907213-38907213
GRCh38: 17:40750961-40750961
2 RB1, LPAR6 NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter) SNV Pathogenic
1824 rs121434306 GRCh37: 13:48986097-48986097
GRCh38: 13:48411961-48411961
3 RB1, LPAR6 NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe) SNV Pathogenic
1827 rs121434307 GRCh37: 13:48985998-48985998
GRCh38: 13:48411862-48411862
4 RB1, LPAR6 NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys) SNV Pathogenic
1829 rs121434309 GRCh37: 13:48985995-48985995
GRCh38: 13:48411859-48411859
5 RB1, LPAR6 NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu) SNV Pathogenic
30780 rs115596308 GRCh37: 13:48985973-48985973
GRCh38: 13:48411837-48411837
6 RB1, LPAR6 NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val) SNV Pathogenic
217499 rs879255262 GRCh37: 13:48986372-48986372
GRCh38: 13:48412236-48412236
7 RB1, LPAR6 NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs) DEL Pathogenic
592094 rs1566212378 GRCh37: 13:48986186-48986187
GRCh38: 13:48412050-48412051
8 RB1, LPAR6 NM_001162498.3(LPAR6):c.66_69dup (p.Phe24fs) DUP Pathogenic
Pathogenic
1323245 GRCh37: 13:48986490-48986491
GRCh38: 13:48412354-48412355
9 RB1, LPAR6 NM_001162498.3(LPAR6):c.1A>G (p.Met1Val) SNV Pathogenic
1685927 GRCh37: 13:48986559-48986559
GRCh38: 13:48412423-48412423
10 RB1, LPAR6 NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg) SNV Pathogenic/Likely Pathogenic
1828 rs121434308 GRCh37: 13:48986124-48986124
GRCh38: 13:48411988-48411988
11 RB1, LPAR6 NM_001162498.3(LPAR6):c.107G>A (p.Cys36Tyr) SNV Uncertain Significance
1699007 GRCh37: 13:48986453-48986453
GRCh38: 13:48412317-48412317

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 8:

73
# Symbol AA change Variation ID SNP ID
1 LPAR6 p.Asp63Val VAR_044326 rs879255262
2 LPAR6 p.Ile188Phe VAR_044327 rs121434307
3 LPAR6 p.Glu189Lys VAR_044328 rs121434309

Expression for Hypotrichosis 8

Search GEO for disease gene expression data for Hypotrichosis 8.

Pathways for Hypotrichosis 8

Pathways related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 KRT85 KRT83 KRT74 KRT71 KRT25 DSG4
2
Show member pathways
11.71 KRT85 KRT83 KRT74 KRT71 KRT25 DSG4

GO Terms for Hypotrichosis 8

Cellular components related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.35 KRT85 KRT83 KRT74 KRT71 KRT25
2 keratin filament GO:0045095 9.32 KRT85 KRT83 KRT74 KRT71 KRT25

Biological processes related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.65 KRT85 KRT83 CDSN
2 keratinization GO:0031424 9.56 KRT85 KRT83 KRT74 KRT71
3 hair cycle GO:0042633 9.46 KRT83 KRT25
4 intermediate filament organization GO:0045109 9.32 KRT85 KRT83 KRT74 KRT71 KRT25

Molecular functions related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid receptor activity GO:0070915 9.26 LPAR6 LPAR1
2 structural constituent of skin epidermis GO:0030280 9.23 KRT85 KRT83 KRT74 KRT71

Sources for Hypotrichosis 8

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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