MCID: HYP559
MIFTS: 40

Hypotrichosis 8

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 8

MalaCards integrated aliases for Hypotrichosis 8:

Name: Hypotrichosis 8 54 12 24 71 29 13 14 69
Hypt8 12 24 71
Woolly Hair, Autosomal Recessive 1, with or Without Hypotrichosis 54 69
Lah3 12 71
Woolly Hair Autosomal Recessive 1 with or Without Hypotrichosis 71
Hypotrichosis, Localized, Autosomal Recessive 3 12
Hypotrichosis Localized Autosomal Recessive 3 71
Arwh1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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



Classifications:



Summaries for Hypotrichosis 8

OMIM : 54
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 1 and third-degree atrioventricular block, and has symptoms including sparse scalp hair, coarse hair and sparse eyelashes. An important gene associated with Hypotrichosis 8 is LPAR6 (Lysophosphatidic Acid Receptor 6), and among its related pathways/superpathways is Keratinization. The drugs Triamcinolone and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include ovary, and related phenotype is integument.

Disease Ontology : 12 A hypotrichosis has material basis in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2.

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.

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:

54

Head And Neck- Teeth:
normal teeth

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

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

Skin Nails & Hair- Hair:
twisted hair shaft
sparse scalp hair (in some patients)
tapered distal end of hair
histology:
absent root sheath components in bulb portion of plucked hair
more
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:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 sparse scalp hair 32 occasional (7.5%) HP:0002209
2 coarse hair 32 HP:0002208
3 sparse eyelashes 32 occasional (7.5%) HP:0000653
4 hypotrichosis 32 HP:0001006
5 dry hair 32 occasional (7.5%) HP:0011359
6 sparse axillary hair 32 occasional (7.5%) HP:0002215
7 nail pits 32 occasional (7.5%) HP:0001803
8 fair hair 32 HP:0002286
9 woolly hair 32 occasional (7.5%) HP:0002224
10 ridged nail 32 occasional (7.5%) HP:0001807
11 sparse and thin eyebrow 32 occasional (7.5%) HP:0000535

MGI Mouse Phenotypes related to Hypotrichosis 8:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 DSG4 KRT25 LIPH PCK1 SNCA

Drugs & Therapeutics for Hypotrichosis 8

Drugs for Hypotrichosis 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2 Anti-Inflammatory Agents Phase 4
3 glucocorticoids Phase 4
4 Hormone Antagonists Phase 4
5 Hormones Phase 4
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
7 Immunosuppressive Agents Phase 4,Phase 2
8 triamcinolone acetonide Phase 4
9 Triamcinolone diacetate Phase 4
10 Triamcinolone hexacetonide Phase 4
11 Anti-Anxiety Agents Phase 4
12 Hypnotics and Sedatives Phase 4
13 Pharmaceutical Solutions Phase 2, Phase 3
14
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
15 Analgesics Phase 1, Phase 2
16 Analgesics, Non-Narcotic Phase 1, Phase 2
17 Interleukin-2 Phase 1, Phase 2
18 Peripheral Nervous System Agents Phase 1, Phase 2
19
s 1 (combination) Phase 1, Phase 2
20
Acetylcholine Approved 51-84-3 187
21
Bimatoprost Approved, Investigational 155206-00-1 5311027
22
Latanoprost Approved, Investigational 130209-82-4 5282380 5311221
23
Minoxidil Approved 38304-91-5 4201
24
Methoxsalen Approved 298-81-7 4114
25 abobotulinumtoxinA
26 Botulinum Toxins
27 Botulinum Toxins, Type A
28 Cholinergic Agents
29 Neuromuscular Agents
30 Neurotransmitter Agents
31 onabotulinumtoxinA
32 Calcium, Dietary
33 Antihypertensive Agents
34 Ophthalmic Solutions
35 Vasodilator Agents
36 insulin
37 Insulin, Globin Zinc
38 Interferon-gamma
39 interferons
40 Mitogens
41 Dermatologic Agents
42 Citrate Nutraceutical
43
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 Intralesional Steroids in the Treatment of Alopecia Areata Recruiting NCT01898806 Phase 4 Intralesional Triamcinolone 2.5 mg/ml;Intralesional Triamcinolone 5 mg/ml;Intralesional Triamcinolone 10 mg/ml;Intralesional Saline
2 Acupuncture for Sedation in the Intensive Care Unit (ICU) Active, not recruiting NCT01362270 Phase 4
3 Enhancing Hair Density With Platelet Rich Fibrin Matrix (PRFM) Completed NCT01590238 Phase 3
4 Efficacy and Safety of LH-8 in Paediatric Alopecia Areata Not yet recruiting NCT03240627 Phase 2, Phase 3 LH-8;Placebos
5 Evaluation of the Efficacy and Tolerability of Treatment With Interleukin-2 in Severe and Resistant Alopecia Areata Unknown status NCT01840046 Phase 1, Phase 2 Interleukin-2
6 Stem Cell Educator Therapy in Alopecia Areata Unknown status NCT01673789 Phase 1, Phase 2
7 Safety and Efficacy of Hair Stimulating Complex (HSC) on Hair Growth in Males With Androgenetic Alopecia Unknown status NCT01501617 Phase 1, Phase 2
8 A Pilot Study of Tralokinumab in Subjects With Moderate to Severe Alopecia Areata Recruiting NCT02684097 Phase 2 Tralokinumab;Placebo
9 Study to Evaluate the Safety and Efficacy of CTP-543 in Adult Patients With Moderate to Severe Alopecia Areata Recruiting NCT03137381 Phase 2 CTP-543;Placebo
10 Abatacept Costimulatory Blockade in the Treatment of Alopecia Totalis/Universalis Withdrawn NCT01314495 Phase 2 Abatacept;Inactive infusion
11 A Clinical Trial to Evaluate the Efficacy of Abatacept in Moderate to Severe Alopecia Areata Withdrawn NCT01917058 Phase 2 Abatacept;placebo
12 The Comparison Study of Intralesional Botulinum Toxin A and Corticosteroid Injection for Alopecia Areata Unknown status NCT00999869 Botulinum toxin type A;Triamcinolone acetonide
13 Study to Assess Efficacy of Platelet-Rich Plasma in Androgenetic Alopecia Unknown status NCT02393040
14 Effect of Follicular Phase Acupuncture on Anti-Mullerian Hormone in Polycystic Ovary Syndrome (PCOS) Patients Undergoing IVF And The Effect on Assisted Reproduction Outcome Completed NCT01778621
15 Efficacy Study of Latanoprost and Bimatoprost Solutions in Promoting Eyelash Growth in Patients With Alopecia Areata Completed NCT00187577 Latanoprost (Xalatan);Bimatoprost (Lumigan);Topical application of latanoprost solution to eyelid
16 Microarray Analysis of Scalp Biopsies After Minoxidil Treatment Completed NCT01309191 Minoxidil
17 Phototoxic Doses of Ultraviolet A for Treatment of Alopecia Areata Completed NCT01559584 Triamcinolone Acetonide
18 Alefacept in Patients With Severe Scalp Alopecia Areata Completed NCT00167102 Alefacept

Search NIH Clinical Center for Hypotrichosis 8

Genetic Tests for Hypotrichosis 8

Genetic tests related to Hypotrichosis 8:

id Genetic test Affiliating Genes
1 Hypotrichosis 8 29 24 LPAR6

Anatomical Context for Hypotrichosis 8

MalaCards organs/tissues related to Hypotrichosis 8:

39
Ovary

Publications for Hypotrichosis 8

Variations for Hypotrichosis 8

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 LPAR6 NM_005767.5(LPAR6): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs121434306 GRCh37 Chromosome 13, 48986097: 48986097
2 LPAR6 LPAR6, 2-BP DEL, 373AA deletion Pathogenic
3 LPAR6 LPAR6, 4-BP INS, 69CATG insertion Pathogenic
4 LPAR6 NM_005767.5(LPAR6): c.562A> T (p.Ile188Phe) single nucleotide variant Pathogenic rs121434307 GRCh37 Chromosome 13, 48985998: 48985998
5 LPAR6 NM_005767.5(LPAR6): c.436G> A (p.Gly146Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434308 GRCh37 Chromosome 13, 48986124: 48986124
6 LPAR6 NM_005767.5(LPAR6): c.565G> A (p.Glu189Lys) single nucleotide variant Pathogenic rs121434309 GRCh37 Chromosome 13, 48985995: 48985995
7 LPAR6 NM_005767.5(LPAR6): c.587C> T (p.Pro196Leu) single nucleotide variant Pathogenic rs115596308 GRCh37 Chromosome 13, 48985973: 48985973
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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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