HYPT7
MCID: HYP575
MIFTS: 35

Hypotrichosis 7 (HYPT7) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 7

Aliases & Descriptions for Hypotrichosis 7:

Name: Hypotrichosis 7 54 12 24 66 29 14
Hypotrichosis, Localized, Autosomal Recessive 2 12 24 13
Total Hypotrichosis, Mari Type 50 25 69
Hypt7 12 24 66
Lah2 12 24 66
Ah 24 25 66
Wh/ht 66 69
Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis 69
Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis 54
Woolly Hair Autosomal Recessive 2 with or Without Hypotrichosis 66
Autosomal Recessive Woolly Hair with or Without Hypotrichosis 25
Hypotrichosis Localized Autosomal Recessive 2 66
Autosomal Recessive Localized Hypotrichosis 25
Alopecia Universalis Congenita, Mari Type 50
Mari Type Alopecia Universalis Congenita 50
Alopecia Universalis Congenita Mari Type 66
Hypotrichosis, Autosomal Recessive 24
Autosomal Recessive Hypotrichosis 25
Hypotrichosis Autosomal Recessive 66
Woolly Hair Autosomal Recessive 2 66
Hypotrichosis, Total, Mari Type 24
Total Mari Type Hypotrichosis, 12
Total Hypotrichosis Mari Type 66
Hypotrichosis 25
Hypotrichoses 25
Arwh2 66
Lah 25
Htl 25

Characteristics:

HPO:

32
hypotrichosis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 604379
Disease Ontology 12 DOID:0110704

Summaries for Hypotrichosis 7

Genetics Home Reference : 25 Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.

MalaCards based summary : Hypotrichosis 7, also known as hypotrichosis, localized, autosomal recessive 2, is related to hypotrichosis 2 and loose anagen hair syndrome, and has symptoms including hypotrichosis, woolly hair and sparse eyelashes. An important gene associated with Hypotrichosis 7 is LIPH (Lipase H), and among its related pathways/superpathways is Keratinization. The drugs Hydrocortisone and Dutasteride have been mentioned in the context of this disorder.

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal recessive mutation of LIPH on chromosome 3q27.2.

UniProtKB/Swiss-Prot : 66 Hypotrichosis 7: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes. Woolly hair autosomal recessive 2: 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 may present with hypotrichosis.

Description from OMIM: 604379

Related Diseases for Hypotrichosis 7

Graphical network of the top 20 diseases related to Hypotrichosis 7:



Diseases related to Hypotrichosis 7

Symptoms & Phenotypes for Hypotrichosis 7

Symptoms by clinical synopsis from OMIM:

604379

Clinical features from OMIM:

604379

Human phenotypes related to Hypotrichosis 7:

32
id Description HPO Frequency HPO Source Accession
1 hypotrichosis 32 HP:0001006
2 woolly hair 32 HP:0002224
3 sparse eyelashes 32 HP:0000653
4 sparse and thin eyebrow 32 HP:0000535

Drugs & Therapeutics for Hypotrichosis 7

Drugs for Hypotrichosis 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
2
Dutasteride Approved, Investigational Phase 3 164656-23-9 152945 6918296
3
Bimatoprost Approved, Investigational Phase 3 155206-00-1 5311027
4
Butyric Acid Experimental Phase 3 107-92-6 264
5
Clobetasol Phase 3 25122-46-7 32798 5311051
6 glucocorticoids Phase 3
7 Steroid Synthesis Inhibitors Phase 3
8 Cortisol succinate Phase 3
9 Hormone Antagonists Phase 3
10 Hormones Phase 3
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
12 Hydrocortisone 17-butyrate 21-propionate Phase 3
13 Hydrocortisone acetate Phase 3
14 Hydrocortisone-17-butyrate Phase 3
15 Pharmaceutical Solutions Phase 3
16 5-alpha Reductase Inhibitors Phase 3
17 Anti-Inflammatory Agents Phase 3
18 Antihypertensive Agents Phase 3
19
Ethanol Approved Phase 2 64-17-5 702
20
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
21 Tempol Phase 2 2226-96-2
22 Interleukin-2 Phase 1, Phase 2
23 Analgesics Phase 1, Phase 2
24
s 1 (combination) Phase 1, Phase 2
25 Neuroprotective Agents Phase 2
26 Analgesics, Non-Narcotic Phase 1, Phase 2
27 Peripheral Nervous System Agents Phase 1, Phase 2
28 Anti-Infective Agents Phase 2
29 Protective Agents Phase 2
30 Anti-Infective Agents, Local Phase 2
31 Radiation-Protective Agents Phase 2
32 Antioxidants Phase 2
33 Central Nervous System Depressants Phase 2
34
Triamcinolone Approved, Vet_approved 124-94-7 31307
35 triamcinolone acetonide
36 Triamcinolone diacetate
37 Triamcinolone hexacetonide
38 Immunosuppressive Agents

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 Bimatoprost for the Treatment of Eyebrow Hypotrichosis Completed NCT01765764 Phase 3
2 A Long-term Study to Determine Safety and Efficacy of Dutasteride in Male Subjects With Androgenetic Alopecia Completed NCT01831791 Phase 3
3 A Trial of Clobetasol Propionate Versus Hydrocortisone in Children With Alopecia Areata Completed NCT01453686 Phase 3
4 Efficacy Study of Tempol to Prevent Hair Loss From Radiotherapy to the Brain Unknown status NCT00801086 Phase 2
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
6 A Pilot Study of Tralokinumab in Subjects With Moderate to Severe Alopecia Areata Recruiting NCT02684097 Phase 2
7 Phase 2A Study of Setipiprant Tablets in Androgenetic Alopecia in Males Recruiting NCT02781311 Phase 2
8 Safety and Preliminary Efficacy Study of MTS-01 for the Prevention of Alopecia Induced by WHole Brain Radiotherapy Terminated NCT00713154 Phase 2
9 Hair Counts From Vertical and Horizontal Sections of Scalp Biopsy SPecimens in Thai Population With Alopecia Unknown status NCT01651689
10 Treatment of Androgenetic Alopecia in Males Completed NCT00947505
11 The Efficacy and Safety of Different Concentrations of Localized Injections of Steroids in the Treatment of Alopecia Areata Completed NCT01246284
12 Yoga-Based Rehabilitation Program in Reducing Physical and Emotional Side Effects in Patients With Cancer Completed NCT00179348

Search NIH Clinical Center for Hypotrichosis 7

Genetic Tests for Hypotrichosis 7

Genetic tests related to Hypotrichosis 7:

id Genetic test Affiliating Genes
1 Hypotrichosis 7 29 24 LIPH

Anatomical Context for Hypotrichosis 7

Publications for Hypotrichosis 7

Variations for Hypotrichosis 7

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 7:

66
id Symbol AA change Variation ID SNP ID
1 LIPH p.Trp108Arg VAR_059050 rs267607219

ClinVar genetic disease variations for Hypotrichosis 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LIPH LIPH, EX4 DEL deletion Pathogenic
2 LIPH LIPH, 5-BP DEL, NT346 deletion Pathogenic
3 LIPH LIPH, 2-BP DEL, 659TA deletion Pathogenic
4 LIPH LIPH, EXONS 7-8 DEL deletion Pathogenic
5 LIPH NM_139248.2(LIPH): c.322T> C (p.Trp108Arg) single nucleotide variant Pathogenic rs267607219 GRCh37 Chromosome 3, 185252648: 185252648
6 LIPH LIPH, 90-BP DUP, NT280 duplication Pathogenic
7 LIPH LIPH, CYS246SER undetermined variant Pathogenic
8 LIPH NM_139248.2(LIPH): c.742C> A (p.His248Asn) single nucleotide variant Pathogenic rs201868115 GRCh37 Chromosome 3, 185237074: 185237074

Expression for Hypotrichosis 7

Search GEO for disease gene expression data for Hypotrichosis 7.

Pathways for Hypotrichosis 7

Pathways related to Hypotrichosis 7 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 7

Biological processes related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.13 DSG4 KRT25 KRT74
2 cornification GO:0070268 8.8 DSG4 KRT25 KRT74

Sources for Hypotrichosis 7

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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