HYPT13
MCID: HYP577
MIFTS: 34

Hypotrichosis 13 (HYPT13)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Hypotrichosis 13

MalaCards integrated aliases for Hypotrichosis 13:

Name: Hypotrichosis 13 57 11 73 28 5 14 71
Hypotrichosis with Woolly Hair 57 11 73
Hypt13 57 11 73
Hypotrichosis, Type 13 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
symptoms improve with age, resulting in woolly hair with almost normal hair density
based on the report of 1 japanese family (last curated july 2014)


Classifications:



External Ids:

Disease Ontology 11 DOID:0110710
OMIM® 57 615896
OMIM Phenotypic Series 57 PS605389
MeSH 43 D007039
SNOMED-CT via HPO 69 52564001
UMLS 71 C4014616

Summaries for Hypotrichosis 13

UniProtKB/Swiss-Prot: 73 A form of hypotrichosis, 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 extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is an autosomal dominant form characterized by sparse woolly hair.

MalaCards based summary: Hypotrichosis 13, also known as hypotrichosis with woolly hair, is related to hypotrichosis 1 and woolly hair, autosomal recessive 3. An important gene associated with Hypotrichosis 13 is KRT71 (Keratin 71), and among its related pathways/superpathways are Nervous system development and Integrated breast cancer pathway. Related phenotypes are woolly hair and sparse eyelashes

Disease Ontology: 11 A hypotrichosis that has material basis in a autosomal dominant mutation of KRT71 on chromosome 12q13.13.

More information from OMIM: 615896 PS605389

Related Diseases for Hypotrichosis 13

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 30.6 LIPH KRT74
2 woolly hair, autosomal recessive 3 30.2 LPAR6 LIPH KRT25 IRS1
3 hypotrichosis simplex 30.0 SNRPE LPAR6 LIPH DSG4
4 hypotrichosis 7 29.6 SNRPE LPAR6 LIPH KRT74 KRT25 DSG4
5 familial woolly hair syndrome 29.5 LPAR6 LIPH LIPC KRT74 KRT71 KRT25
6 hypotrichosis 29.2 SNRPE LPAR6 LIPH LIPC KRT74 KRT71
7 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 10.4
8 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
9 marie unna congenital hypotrichosis 10.2
10 mucinoses 10.2 KRT74 KRT71
11 nonsyndromic congenital nail disorder 10.1 KRT74 KRT71
12 naegeli-franceschetti-jadassohn syndrome 10.1 KRT74 KRT25
13 ectodermal dysplasia 6, hair/nail type 10.1 KRT74 DSG4
14 hypotrichosis simplex of the scalp 10.0 KRT74 CDSN
15 ectodermal dysplasia 5, hair/nail type 10.0 KRT74 DSG4
16 nail disorder, nonsyndromic congenital, 4 10.0 KRT74 KRT71
17 ectodermal dysplasia 7, hair/nail type 9.9 KRT74 DSG4
18 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 9.9 DSG4 CDSN
19 hypotrichosis 3 9.9 LPAR6 LIPH KRT74 KRT71
20 mixed cell adenoma 9.9 IRS1 EGFR
21 woolly hair, autosomal dominant 9.8 LPAR6 LIPH KRT74 KRT71 KRT25
22 hypotrichosis 4 9.8 SNRPE LPAR6 LIPH KRT74 KRT71
23 hypotrichosis, congenital, with juvenile macular dystrophy 9.8 LPAR6 LIPH DSG4 CDSN
24 ectodermal dysplasia 4, hair/nail type 9.7 LPAR6 LIPH KRT74 KRT71 DSG4
25 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.7 LPAR6 LIPH KRT71 DSG4 CDSN
26 atrichia with papular lesions 9.6 LPAR6 LIPH KRT74 DSG4 CDSN
27 hypotrichosis 2 9.6 LPAR6 LIPH KRT74 DSG4 CDSN
28 aggressive systemic mastocytosis 9.6 SNRNP70 ABL1
29 hypotrichosis 6 9.6 SNRPE LPAR6 LIPH KRT74 KRT71 DSG4
30 hypotrichosis 11 9.5 SNRPE LPAR6 LIPH KRT74 DSG4 CDSN
31 monilethrix 9.4 LPAR6 LIPH KRT74 KRT71 KRT25 DSG4
32 hypotrichosis 8 9.2 SNRPE LPAR6 LIPH KRT74 KRT71 KRT25
33 hair disease 9.1 LPAR6 LIPH KRT74 KRT71 EGFR DSG4

Graphical network of the top 20 diseases related to Hypotrichosis 13:



Diseases related to Hypotrichosis 13

Symptoms & Phenotypes for Hypotrichosis 13

Human phenotypes related to Hypotrichosis 13:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 woolly hair 30 Very rare (1%) HP:0002224
2 sparse eyelashes 30 Very rare (1%) HP:0000653

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
hypotrichosis
tightly curled ('woolly') scalp hair
scalp hair stops growing at a few inches
reduced density of scalp hair
longitudinal grooves in hair shafts
more

Clinical features from OMIM®:

615896 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Hypotrichosis 13 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.05 ABL1 CDSN DSG4 EGFR F11 IRS1
2 no effect GR00402-S-2 10.05 ABL1 CDSN EGFR IRS1 KRT25 KRT71

MGI Mouse Phenotypes related to Hypotrichosis 13:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.28 ABL1 CDSN DSG4 EGFR IRS1 KRT25

Drugs & Therapeutics for Hypotrichosis 13

Search Clinical Trials, NIH Clinical Center for Hypotrichosis 13

Genetic Tests for Hypotrichosis 13

Genetic tests related to Hypotrichosis 13:

# Genetic test Affiliating Genes
1 Hypotrichosis 13 28 KRT71

Anatomical Context for Hypotrichosis 13

Publications for Hypotrichosis 13

Articles related to Hypotrichosis 13:

# Title Authors PMID Year
1
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. 57 5
22592156 2012
2
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 62
31790498 2019
3
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 62
26902920 2016
4
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. 62
24586639 2014
5
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. 62
23066499 2012
6
Marie-Unna hereditary hypotrichosis or autosomal recessive hereditary hypotrichosis with woolly hair: the diagnostic dilemma of labeling cases with hypotrichosis. 62
22082473 2011

Variations for Hypotrichosis 13

ClinVar genetic disease variations for Hypotrichosis 13:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT71 NM_033448.3(KRT71):c.422T>G (p.Phe141Cys) SNV Pathogenic
140460 rs587777545 GRCh37: 12:52946440-52946440
GRCh38: 12:52552656-52552656
2 IRS1 NM_005544.3(IRS1):c.158G>A (p.Trp53Ter) SNV Likely Pathogenic
804395 rs1574667668 GRCh37: 2:227663297-227663297
GRCh38: 2:226798581-226798581
3 KRT71 NM_033448.3(KRT71):c.1349C>T (p.Pro450Leu) SNV Uncertain Significance
1028520 rs372311616 GRCh37: 12:52939360-52939360
GRCh38: 12:52545576-52545576

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 13:

73
# Symbol AA change Variation ID SNP ID
1 KRT71 p.Phe141Cys VAR_071406 rs587777545

Expression for Hypotrichosis 13

Search GEO for disease gene expression data for Hypotrichosis 13.

Pathways for Hypotrichosis 13

Pathways related to Hypotrichosis 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 KRT74 KRT71 KRT25 EGFR DSG4 CDSN
2 11.68 IRS1 EGFR ABL1
3 11.6 IRS1 EGFR ABL1
4
Show member pathways
11.56 KRT74 KRT71 KRT25 DSG4 CDSN
5 10.79 IRS1 EGFR ABL1
6 10.5 SORBS2 EGFR

GO Terms for Hypotrichosis 13

Cellular components related to Hypotrichosis 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 9.1 KRT74 KRT71 KRT25

Biological processes related to Hypotrichosis 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.5 EGFR DSG4 CDSN ABL1
2 peptidyl-tyrosine autophosphorylation GO:0038083 9.46 EGFR ABL1
3 intermediate filament organization GO:0045109 9.1 KRT74 KRT71 KRT25

Molecular functions related to Hypotrichosis 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipase activity GO:0016298 9.26 LIPH LIPC
2 lipoprotein lipase activity GO:0004465 8.92 LIPH LIPC

Sources for Hypotrichosis 13

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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