HYPT13
MCID: HYP577
MIFTS: 33

Hypotrichosis 13 (HYPT13)

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

Aliases & Classifications for Hypotrichosis 13

MalaCards integrated aliases for Hypotrichosis 13:

Name: Hypotrichosis 13 57 12 72 29 6 15 70
Hypotrichosis with Woolly Hair 57 12 72
Hypt13 57 12 72
Hypotrichosis, Type 13 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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)


HPO:

31
hypotrichosis 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110710
OMIM® 57 615896
OMIM Phenotypic Series 57 PS605389
MeSH 44 D007039
UMLS 70 C4014616

Summaries for Hypotrichosis 13

UniProtKB/Swiss-Prot : 72 Hypotrichosis 13: 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 woolly hair, autosomal recessive 3 and hypotrichosis simplex. An important gene associated with Hypotrichosis 13 is KRT71 (Keratin 71), and among its related pathways/superpathways are Developmental Biology and Keratinization. Related phenotypes are sparse hair and woolly hair

Disease Ontology : 12 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

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:

31
# Description HPO Frequency HPO Source Accession
1 sparse hair 31 HP:0008070
2 woolly hair 31 HP:0002224
3 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

MGI Mouse Phenotypes related to Hypotrichosis 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.1 DSG4 EGFR IRS1 KRT25 KRT71 LIPC

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 29 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 6
22592156 2012
2
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 61
31790498 2019
3
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 61
26902920 2016
4
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. 61
24586639 2014
5
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. 61
23066499 2012
6
Marie-Unna hereditary hypotrichosis or autosomal recessive hereditary hypotrichosis with woolly hair: the diagnostic dilemma of labeling cases with hypotrichosis. 61
22082473 2011

Variations for Hypotrichosis 13

ClinVar genetic disease variations for Hypotrichosis 13:

6
# 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 KRT71 NM_033448.3(KRT71):c.441+1G>T SNV Pathogenic 1031561 GRCh37: 12:52946420-52946420
GRCh38: 12:52552636-52552636
3 IRS1 NM_005544.2(IRS1):c.158G>A (p.Trp53Ter) SNV Likely pathogenic 804395 rs1574667668 GRCh37: 2:227663297-227663297
GRCh38: 2:226798581-226798581
4 KRT71 NM_033448.3(KRT71):c.1349C>T (p.Pro450Leu) SNV Uncertain significance 1028520 GRCh37: 12:52939360-52939360
GRCh38: 12:52545576-52545576

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

72
# 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
12.77 KRT71 KRT25 IRS1 EGFR DSG4
2
Show member pathways
11.25 KRT71 KRT25 DSG4
3 11.08 IRS1 EGFR
4 10.65 IRS1 EGFR

GO Terms for Hypotrichosis 13

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 KRT71 KRT25 DSG4
2 hair follicle development GO:0001942 9.37 EGFR DSG4
3 hair follicle morphogenesis GO:0031069 9.32 KRT71 KRT25
4 triglyceride catabolic process GO:0019433 9.16 LIPH LIPC
5 intermediate filament organization GO:0045109 8.96 KRT71 KRT25
6 cornification GO:0070268 8.8 KRT71 KRT25 DSG4

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

# Name GO ID Score Top Affiliating Genes
1 carboxylic ester hydrolase activity GO:0052689 9.32 LIPH LIPC
2 phospholipase activity GO:0004620 9.26 LIPH LIPC
3 triglyceride lipase activity GO:0004806 9.16 LIPH LIPC
4 lipase activity GO:0016298 8.96 LIPH LIPC
5 lipoprotein lipase activity GO:0004465 8.62 LIPH LIPC

Sources for Hypotrichosis 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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