MCID: HYP559
MIFTS: 34

Hypotrichosis 8

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 8

MalaCards integrated aliases for Hypotrichosis 8:

Name: Hypotrichosis 8 53 12 71 28 13 14 69
Hypt8 53 12 71
Lah3 53 12 71
Woolly Hair, Autosomal Recessive 1, with or Without Hypotrichosis 53 69
Hypotrichosis, Localized, Autosomal Recessive 3 53 12
Woolly Hair Autosomal Recessive 1 with or Without Hypotrichosis 71
Hypotrichosis, Localized, Autosomal Recessive 3; Lah3 53
Hypotrichosis Localized Autosomal Recessive 3 71
Arwh1 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype within families ranging from woolly hair to hypotrichosis



Classifications:



Summaries for Hypotrichosis 8

OMIM : 53 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)

MalaCards based summary : Hypotrichosis 8, also known as hypt8, is related to hypotrichosis and hypotrichosis 7, and has symptoms including coarse hair, hypotrichosis and sparse scalp hair. An important gene associated with Hypotrichosis 8 is LPAR6 (Lysophosphatidic Acid Receptor 6), and among its related pathways/superpathways is Keratinization. Related phenotype is integument.

UniProtKB/Swiss-Prot : 71 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. 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 : 12 A hypotrichosis has material basis in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2.

Related Diseases for Hypotrichosis 8

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



Diseases related to Hypotrichosis 8

Symptoms & Phenotypes for Hypotrichosis 8

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Hypotrichosis 8:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 coarse hair 31 HP:0002208
2 hypotrichosis 31 HP:0001006
3 sparse scalp hair 31 occasional (7.5%) HP:0002209
4 woolly hair 31 occasional (7.5%) HP:0002224
5 nail pits 31 occasional (7.5%) HP:0001803
6 ridged nail 31 occasional (7.5%) HP:0001807
7 sparse eyelashes 31 occasional (7.5%) HP:0000653
8 sparse axillary hair 31 occasional (7.5%) HP:0002215
9 dry hair 31 occasional (7.5%) HP:0011359
10 fair hair 31 HP:0002286
11 sparse and thin eyebrow 31 occasional (7.5%) HP:0000535

MGI Mouse Phenotypes related to Hypotrichosis 8:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 DSG4 KRT25 LIPH PCK1 SNCA

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 Hypotrichosis 8 28 LPAR6

Anatomical Context for Hypotrichosis 8

Publications for Hypotrichosis 8

Articles related to Hypotrichosis 8:

# Title Authors Year
1
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). ( 18461368 )
2008
2
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. ( 17594396 )
2007

Variations for Hypotrichosis 8

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

71
# 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

ClinVar genetic disease variations for Hypotrichosis 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LPAR6 NM_005767.5(LPAR6): c.587C> T (p.Pro196Leu) single nucleotide variant Pathogenic rs115596308 GRCh37 Chromosome 13, 48985973: 48985973
2 LPAR6 NM_005767.5(LPAR6): c.565G> A (p.Glu189Lys) single nucleotide variant Pathogenic rs121434309 GRCh37 Chromosome 13, 48985995: 48985995
3 LPAR6 NM_005767.5(LPAR6): c.436G> A (p.Gly146Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434308 GRCh38 Chromosome 13, 48411988: 48411988
4 LPAR6 NM_005767.5(LPAR6): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs121434306 GRCh37 Chromosome 13, 48986097: 48986097
5 LPAR6 LPAR6, 2-BP DEL, 373AA deletion Pathogenic
6 LPAR6 LPAR6, 4-BP INS, 69CATG insertion Pathogenic
7 LPAR6 NM_005767.5(LPAR6): c.562A> T (p.Ile188Phe) single nucleotide variant Pathogenic rs121434307 GRCh37 Chromosome 13, 48985998: 48985998
8 KRT25 NM_181534.3(KRT25): c.950T> C (p.Leu317Pro) single nucleotide variant Pathogenic rs766783183 GRCh37 Chromosome 17, 38907213: 38907213
9 LPAR6 NM_005767.5(LPAR6): c.188A> T (p.Asp63Val) single nucleotide variant Pathogenic rs879255262 GRCh38 Chromosome 13, 48412236: 48412236

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
11.25 DSG4 KRT25 KRT74

GO Terms for Hypotrichosis 8

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.33 DSG4 KRT25 KRT74
2 aging GO:0007568 9.13 KRT25 PCK1 SNCA
3 cornification GO:0070268 8.8 DSG4 KRT25 KRT74

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL2A1 MATN3

Sources for Hypotrichosis 8

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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