HYPT7
MCID: HYP575
MIFTS: 40

Hypotrichosis 7 (HYPT7)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 7

MalaCards integrated aliases for Hypotrichosis 7:

Name: Hypotrichosis 7 58 12 76 30 6 15
Total Hypotrichosis, Mari Type 54 26 41 74
Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis 6 17 74
Hypotrichosis, Localized, Autosomal Recessive 2 58 12 13
Hypt7 58 12 76
Lah2 58 12 76
Ah 58 26 76
Wh/ht 76 74
Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis 58
Woolly Hair Autosomal Recessive 2 with or Without Hypotrichosis 76
Autosomal Recessive Woolly Hair with or Without Hypotrichosis 26
Hypotrichosis, Localized, Autosomal Recessive 2; Lah2 58
Hypotrichosis Localized Autosomal Recessive 2 76
Autosomal Recessive Localized Hypotrichosis 26
Alopecia Universalis Congenita, Mari Type 54
Mari Type Alopecia Universalis Congenita 54
Alopecia Universalis Congenita Mari Type 76
Hypotrichosis, Autosomal Recessive; Ah 58
Hypotrichosis, Autosomal Recessive 58
Autosomal Recessive Hypotrichosis 26
Hypotrichosis Autosomal Recessive 76
Woolly Hair Autosomal Recessive 2 76
Hypotrichosis, Total, Mari Type 58
Total Mari Type Hypotrichosis, 12
Total Hypotrichosis Mari Type 76
Hypotrichosis 26
Hypotrichoses 26
Arwh2 76
Lah 26
Htl 26

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype ranging from woolly to sparse hair, even within a single family


HPO:

33
hypotrichosis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110704
OMIM 58 604379

Summaries for Hypotrichosis 7

Genetics Home Reference : 26 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 total hypotrichosis, mari type, is related to hypotrichosis 13 and hypotrichosis simplex. An important gene associated with Hypotrichosis 7 is LIPH (Lipase H). Affiliated tissues include skin, and related phenotypes are woolly hair and hypotrichosis

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

UniProtKB/Swiss-Prot : 76 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

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 13 33.8 KRT25 LIPH
2 hypotrichosis simplex 33.5 DSG4 LIPH LPAR6
3 monilethrix 31.9 DSG4 LPAR6
4 hypotrichosis 6 31.2 DSG4 LIPH LPAR6 SNCA
5 hypotrichosis 8 30.9 DSG4 KRT25 LIPH LPAR6 SNCA
6 hypotrichosis 30.2 DSG4 KRT25 LIPH LPAR6
7 woolly hair syndrome 30.2 KRT25 LIPH LPAR6
8 hypotrichosis 2 12.6
9 hypotrichosis, congenital, with juvenile macular dystrophy 12.5
10 hypotrichosis 1 12.5
11 hypotrichosis 4 12.5
12 hypotrichosis 3 12.4
13 marie unna congenital hypotrichosis 12.4
14 hypotrichosis and recurrent skin vesicles 12.4
15 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.4
16 hypotrichosis 11 12.3
17 hypotrichosis 12 12.3
18 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.3
19 hypotrichosis 5 12.3
20 spondyloepimetaphyseal dysplasia with hypotrichosis 12.3
21 metaphyseal dysplasia without hypotrichosis 12.3
22 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.2
23 hypotrichosis 9 12.2
24 hypotrichosis 10 12.2
25 hypotrichosis 14 12.2
26 hypotrichosis simplex of the scalp 12.1
27 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 12.1
28 juvenile macular degeneration and hypotrichosis 12.1
29 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 12.0
30 hypotrichosis-deafness syndrome 12.0
31 brachymetapody-anodontia-hypotrichosis-albinoidism 12.0
32 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 12.0
33 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 12.0
34 hypotrichosis of eyelid 11.9
35 congenital hypotrichosis milia 11.9
36 leukomelanoderma mental redardation hypotrichosis 11.9
37 hypotrichosis-intellectual disability, lopes type 11.9
38 bazex syndrome 11.9
39 schopf-schulz-passarge syndrome 11.8
40 palmoplantar keratoderma and congenital alopecia 1 11.8
41 loose anagen hair syndrome 11.7
42 rombo syndrome 11.7
43 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.6
44 woolly hair, autosomal recessive 3 11.6
45 ichthyosis, congenital, autosomal recessive 11 11.5
46 noonan syndrome-like disorder with loose anagen hair 1 11.4
47 hallermann-streiff syndrome 11.4
48 cartilage-hair hypoplasia 11.4
49 sc phocomelia syndrome 11.3
50 basaran yilmaz syndrome 11.3

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



Diseases related to Hypotrichosis 7

Symptoms & Phenotypes for Hypotrichosis 7

Human phenotypes related to Hypotrichosis 7:

33
# Description HPO Frequency HPO Source Accession
1 woolly hair 33 occasional (7.5%) HP:0002224
2 hypotrichosis 33 HP:0001006
3 sparse eyelashes 33 HP:0000653
4 comedo 33 HP:0025249
5 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Nails:
normal nails

Skin Nails Hair Hair:
twisted hair shaft
sparse scalp hair from birth (in some patients)
woolly hair (in some patients)
sparse to no eyebrows (in some patients)
sparse to no eyelashes (in some patients)
more
Skin Nails Hair Skin:
normal skin
normal sweating

Head And Neck Teeth:
normal teeth

Clinical features from OMIM:

604379

Drugs & Therapeutics for Hypotrichosis 7

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 7

Genetic Tests for Hypotrichosis 7

Genetic tests related to Hypotrichosis 7:

# Genetic test Affiliating Genes
1 Hypotrichosis 7 30 LIPH

Anatomical Context for Hypotrichosis 7

MalaCards organs/tissues related to Hypotrichosis 7:

42
Skin

Publications for Hypotrichosis 7

Articles related to Hypotrichosis 7:

(show all 35)
# Title Authors Year
1
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. ( 30401459 )
2018
2
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )
2016
3
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
4
A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families. ( 25251037 )
2014
5
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH). ( 25429336 )
2014
6
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. ( 24628704 )
2014
7
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. ( 24354445 )
2013
8
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. ( 23066499 )
2012
9
A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. ( 22531990 )
2012
10
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. ( 21070332 )
2011
11
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. ( 25386265 )
2011
12
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees. ( 20528890 )
2011
13
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. ( 21537821 )
2011
14
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. ( 21426374 )
2011
15
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23a8922.3. ( 20054564 )
2010
16
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. ( 20213768 )
2010
17
Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families. ( 20107739 )
2010
18
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. ( 19292720 )
2009
19
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). ( 19167195 )
2009
20
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. ( 19766349 )
2009
21
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. ( 18820939 )
2009
22
A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2). ( 18795930 )
2009
23
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. ( 18692127 )
2008
24
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). ( 18461368 )
2008
25
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). ( 18445047 )
2008
26
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. ( 17333281 )
2007
27
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. ( 17594396 )
2007
28
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. ( 17392831 )
2007
29
Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. ( 16770573 )
2006
30
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ( 16543896 )
2006
31
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ( 16575393 )
2006
32
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 16297213 )
2005
33
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. ( 16382669 )
2005
34
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 15304105 )
2004
35
A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. ( 15191570 )
2004

Variations for Hypotrichosis 7

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

76
# Symbol AA change Variation ID SNP ID
1 LIPH p.Trp108Arg VAR_059050 rs267607219

ClinVar genetic disease variations for Hypotrichosis 7:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 LIPH LIPH, 5-BP DEL, NT346 deletion Pathogenic
2 LIPH LIPH, EX4 DEL deletion Pathogenic
3 LIPH NM_139248.3(LIPH): c.659_660del (p.Ile220Argfs) deletion Pathogenic GRCh37 Chromosome 3, 185241917: 185241918
4 LIPH NM_139248.3(LIPH): c.659_660del (p.Ile220Argfs) deletion Pathogenic GRCh38 Chromosome 3, 185524129: 185524130
5 LIPH LIPH, EXONS 7-8 DEL deletion Pathogenic
6 LIPH NM_139248.2(LIPH): c.322T> C (p.Trp108Arg) single nucleotide variant Pathogenic rs267607219 GRCh37 Chromosome 3, 185252648: 185252648
7 LIPH NM_139248.2(LIPH): c.322T> C (p.Trp108Arg) single nucleotide variant Pathogenic rs267607219 GRCh38 Chromosome 3, 185534860: 185534860
8 LIPH LIPH, 90-BP DUP, NT280 duplication Pathogenic
9 LIPH NM_139248.2(LIPH): c.742C> A (p.His248Asn) single nucleotide variant Pathogenic rs201868115 GRCh37 Chromosome 3, 185237074: 185237074
10 LIPH NM_139248.2(LIPH): c.742C> A (p.His248Asn) single nucleotide variant Pathogenic rs201868115 GRCh38 Chromosome 3, 185519286: 185519286
11 LIPH NM_139248.2(LIPH): c.736T> A (p.Cys246Ser) single nucleotide variant Likely pathogenic rs201249971 GRCh37 Chromosome 3, 185237080: 185237080
12 LIPH NM_139248.2(LIPH): c.736T> A (p.Cys246Ser) single nucleotide variant Likely pathogenic rs201249971 GRCh38 Chromosome 3, 185519292: 185519292

Expression for Hypotrichosis 7

Search GEO for disease gene expression data for Hypotrichosis 7.

Pathways for Hypotrichosis 7

GO Terms for Hypotrichosis 7

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 8.96 ACSM1 LIPC
2 fatty acid biosynthetic process GO:0006633 8.62 ACSM1 LIPC

Molecular functions related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carboxylic ester hydrolase activity GO:0052689 8.96 LIPC LIPH
2 phospholipase activity GO:0004620 8.62 LIPC LIPH

Sources for Hypotrichosis 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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