Aliases & Classifications for Hypotrichosis 7

MalaCards integrated aliases for Hypotrichosis 7:

Name: Hypotrichosis 7 53 12 71 28 14
Hypotrichosis, Localized, Autosomal Recessive 2 53 12 13
Total Hypotrichosis, Mari Type 49 24 69
Hypt7 53 12 71
Lah2 53 12 71
Ah 53 24 71
Wh/ht 71 69
Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis 69
Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis 53
Woolly Hair Autosomal Recessive 2 with or Without Hypotrichosis 71
Autosomal Recessive Woolly Hair with or Without Hypotrichosis 24
Hypotrichosis, Localized, Autosomal Recessive 2; Lah2 53
Hypotrichosis Localized Autosomal Recessive 2 71
Autosomal Recessive Localized Hypotrichosis 24
Alopecia Universalis Congenita, Mari Type 49
Mari Type Alopecia Universalis Congenita 49
Alopecia Universalis Congenita Mari Type 71
Hypotrichosis, Autosomal Recessive; Ah 53
Hypotrichosis, Autosomal Recessive 53
Autosomal Recessive Hypotrichosis 24
Hypotrichosis Autosomal Recessive 71
Woolly Hair Autosomal Recessive 2 71
Hypotrichosis, Total, Mari Type 53
Total Mari Type Hypotrichosis, 12
Total Hypotrichosis Mari Type 71
Hypotrichosis 24
Hypotrichoses 24
Arwh2 71
Lah 24
Htl 24

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
hypotrichosis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 604379
Disease Ontology 12 DOID:0110704

Summaries for Hypotrichosis 7

Genetics Home Reference : 24 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 6 and hypotrichosis, 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. Affiliated tissues include skin.

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

UniProtKB/Swiss-Prot : 71 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 via clinical synopsis from OMIM:

53
Head And Neck Eyes:
sparse eyebrows
sparse eyelashes

Skin Nails Hair Skin:
normal skin
normal sweating

Skin Nails Hair Hair:
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)
sparse to no axillary hair (in some patients)
more
Head And Neck Teeth:
normal teeth

Skin Nails Hair Nails:
normal nails


Clinical features from OMIM:

604379

Human phenotypes related to Hypotrichosis 7:

31
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 31 HP:0001006
2 woolly hair 31 occasional (7.5%) HP:0002224
3 sparse eyelashes 31 HP:0000653
4 sparse and thin eyebrow 31 HP:0000535

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 28 LIPH

Anatomical Context for Hypotrichosis 7

MalaCards organs/tissues related to Hypotrichosis 7:

38
Skin

Publications for Hypotrichosis 7

Articles related to Hypotrichosis 7:

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

Variations for Hypotrichosis 7

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

71
# Symbol AA change Variation ID SNP ID
1 LIPH p.Trp108Arg VAR_059050 rs267607219

ClinVar genetic disease variations for Hypotrichosis 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LIPH LIPH, CYS246SER undetermined variant Pathogenic
2 LIPH NM_139248.2(LIPH): c.742C> A (p.His248Asn) single nucleotide variant Pathogenic rs201868115 GRCh37 Chromosome 3, 185237074: 185237074
3 LIPH LIPH, EX4 DEL deletion Pathogenic
4 LIPH LIPH, 5-BP DEL, NT346 deletion Pathogenic
5 LIPH LIPH, 2-BP DEL, 659TA deletion Pathogenic
6 LIPH LIPH, EXONS 7-8 DEL deletion Pathogenic
7 LIPH NM_139248.2(LIPH): c.322T> C (p.Trp108Arg) single nucleotide variant Pathogenic rs267607219 GRCh37 Chromosome 3, 185252648: 185252648
8 LIPH LIPH, 90-BP DUP, NT280 duplication Pathogenic
9 LIPH NM_139248.2(LIPH): c.736T> A (p.Cys246Ser) single nucleotide variant Likely pathogenic rs201249971 GRCh37 Chromosome 3, 185237080: 185237080

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:

# 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:

# 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
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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