Hypotrichosis 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Oral diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0110710

OMIM® ⁵⁷ 615896

OMIM Phenotypic Series ⁵⁷ PS605389

MeSH ⁴³ D007039

MedGen ⁴⁰ C4014616 CN196687

SNOMED-CT via HPO ⁶⁹ 52564001

UMLS ⁷¹ C4014616

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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

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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:

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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

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Drugs & Therapeutics for Hypotrichosis 13

Search Clinical Trials, NIH Clinical Center for Hypotrichosis 13

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Genetic Tests for Hypotrichosis 13

Genetic tests related to Hypotrichosis 13:

#	Genetic test	Affiliating Genes
1	Hypotrichosis 13 ²⁸	KRT71

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Anatomical Context for Hypotrichosis 13

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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	Fujimoto A...Shimomura Y	22592156	2012
2	Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. ⁶²	Schlaweck AE...Betz RC	31790498	2019
3	Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ⁶²	Zernov NV...Zinchenko RA	26902920	2016
4	Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. ⁶²	Tanahashi K...Akiyama M	24586639	2014
5	A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. ⁶²	Tariq M...Klar J	23066499	2012
6	Marie-Unna hereditary hypotrichosis or autosomal recessive hereditary hypotrichosis with woolly hair: the diagnostic dilemma of labeling cases with hypotrichosis. ⁶²	Aboud KA...Aboud DA	22082473	2011

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Genes for Hypotrichosis 13

Genes related to Hypotrichosis 13 (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KRT71	Keratin 71	Protein Coding	1362.95	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	22592156
2	IRS1	Insulin Receptor Substrate 1	Protein Coding	25	Likely pathogenic ⁵
3	LIPH	Lipase H	Protein Coding	7.63	DISEASES inferred ¹⁴
4	KRT25	Keratin 25	Protein Coding	7.28	DISEASES inferred ¹⁴
5	LPAR6	Lysophosphatidic Acid Receptor 6	Protein Coding	6.5	DISEASES inferred ¹⁴
6	SCGB2A1	Secretoglobin Family 2A Member 1	Protein Coding	6.34	DISEASES inferred ¹⁴
7	SORBS2	Sorbin And SH3 Domain Containing 2	Protein Coding	6.06	DISEASES inferred ¹⁴
8	KRT74	Keratin 74	Protein Coding	5.84	DISEASES inferred ¹⁴
9	LIPC	Lipase C, Hepatic Type	Protein Coding	5.45	DISEASES inferred ¹⁴
10	SNRPE	Small Nuclear Ribonucleoprotein Polypeptide E	Protein Coding	5	DISEASES inferred ¹⁴
11	DSG4	Desmoglein 4	Protein Coding	4.62	DISEASES inferred ¹⁴
12	CDSN	Corneodesmosin	Protein Coding	4.58	DISEASES inferred ¹⁴
13	F11	Coagulation Factor XI	Protein Coding	4.1	DISEASES inferred ¹⁴
14	SNRNP70	Small Nuclear Ribonucleoprotein U1 Subunit 70	Protein Coding	3.73	DISEASES inferred ¹⁴
15	EGFR	Epidermal Growth Factor Receptor	Protein Coding	3.11	DISEASES inferred ¹⁴
16	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	2.8	DISEASES inferred ¹⁴

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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

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Expression for Hypotrichosis 13

Search GEO for disease gene expression data for Hypotrichosis 13.

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Pathways for Hypotrichosis 13

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

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.27	KRT74 KRT71 KRT25 EGFR DSG4 CDSN
2	Integrated breast cancer pathway ⁷⁴	11.68	IRS1 EGFR ABL1
3	Tyrosine Kinases / Adaptors ³	11.6	IRS1 EGFR ABL1
4	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.56	KRT74 KRT71 KRT25 DSG4 CDSN
5	Signaling events mediated by PTP1B ⁶¹	10.79	IRS1 EGFR ABL1
6	Extracellular vesicles in the crosstalk of cardiac cells ⁷⁴	10.5	SORBS2 EGFR

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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

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Sources for Hypotrichosis 13

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HYPT13 MCID: HYP577 MIFTS: 34	Hypotrichosis 13 (HYPT13) Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Hypotrichosis 13 (HYPT13)

Aliases & Classifications for Hypotrichosis 13

MalaCards integrated aliases for Hypotrichosis 13:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Hypotrichosis 13

Related Diseases for Hypotrichosis 13

Diseases in the Hypotrichosis family:

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

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

Symptoms & Phenotypes for Hypotrichosis 13

Human phenotypes related to Hypotrichosis 13:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

MGI Mouse Phenotypes related to Hypotrichosis 13:

Drugs & Therapeutics for Hypotrichosis 13

Genetic Tests for Hypotrichosis 13

Genetic tests related to Hypotrichosis 13:

Anatomical Context for Hypotrichosis 13

Publications for Hypotrichosis 13

Articles related to Hypotrichosis 13:

Genes for Hypotrichosis 13

Genes related to Hypotrichosis 13 (1 elite genes):

Variations for Hypotrichosis 13

ClinVar genetic disease variations for Hypotrichosis 13:

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

Expression for Hypotrichosis 13

Pathways for Hypotrichosis 13

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

GO Terms for Hypotrichosis 13

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

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

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

Sources for Hypotrichosis 13