MCID: HYP577
MIFTS: 27

Hypotrichosis 13

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 13

MalaCards integrated aliases for Hypotrichosis 13:

Name: Hypotrichosis 13 57 12 75 29 6 15 73
Hypotrichosis with Woolly Hair 57 12 75
Hypt13 57 12 75
Hypotrichosis, Type 13 40

Characteristics:

OMIM:

57
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:

32
hypotrichosis 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615896
Disease Ontology 12 DOID:0110710
MeSH 44 D007039
UMLS 73 C4014616

Summaries for Hypotrichosis 13

UniProtKB/Swiss-Prot : 75 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 characterized by sparse woolly hair.

MalaCards based summary : Hypotrichosis 13, also known as hypotrichosis with woolly hair, is related to hypotrichosis 7 and woolly hair syndrome. An important gene associated with Hypotrichosis 13 is KRT71 (Keratin 71), and among its related pathways/superpathways is Keratinization. Related phenotypes are hypotrichosis and woolly hair

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

Description from OMIM: 615896

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

Diseases related to Hypotrichosis 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 7 28.1 KRT25 KRT74 LIPH
2 woolly hair syndrome 27.7 KRT25 KRT71 KRT74 LIPH
3 hypotrichosis 27.6 KRT25 KRT71 KRT74 LIPH
4 hypotrichosis 6 8.9 KRT74 LIPH
5 hypotrichosis 8 8.6 KRT25 KRT74 LIPH
6 hair disease 8.5 KRT25 KRT74 LIPH

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



Diseases related to Hypotrichosis 13

Symptoms & Phenotypes for Hypotrichosis 13

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

615896

Human phenotypes related to Hypotrichosis 13:

32
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 32 HP:0001006
2 woolly hair 32 HP:0002224

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 Year
1
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )
2016
2
Marie-Unna hereditary hypotrichosis or autosomal recessive hereditary hypotrichosis with woolly hair: the diagnostic dilemma of labeling cases with hypotrichosis. ( 22082473 )
2011

Variations for Hypotrichosis 13

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

75
# Symbol AA change Variation ID SNP ID
1 KRT71 p.Phe141Cys VAR_071406 rs587777545

ClinVar genetic disease variations for Hypotrichosis 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT71 NM_033448.2(KRT71): c.422T> G (p.Phe141Cys) single nucleotide variant Pathogenic rs587777545 GRCh37 Chromosome 12, 52946440: 52946440
2 KRT71 NM_033448.2(KRT71): c.422T> G (p.Phe141Cys) single nucleotide variant Pathogenic rs587777545 GRCh38 Chromosome 12, 52552656: 52552656

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
11.25 KRT25 KRT71 KRT74

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 8.96 KRT71 KRT74
2 intermediate filament GO:0005882 8.8 KRT25 KRT71 KRT74

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.33 KRT25 KRT71 KRT74
2 hair follicle morphogenesis GO:0031069 9.26 KRT25 KRT71
3 intermediate filament organization GO:0045109 8.96 KRT25 KRT71
4 cornification GO:0070268 8.8 KRT25 KRT71 KRT74

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.8 KRT25 KRT71 KRT74

Sources for Hypotrichosis 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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