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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615896

Disease Ontology ¹² DOID:0110710

MedGen ⁴² C4014616 CN196687

MeSH ⁴⁴ D007039

SNOMED-CT via HPO ⁶⁹ 263681008 53602002 56558005 more

UMLS ⁷³ C4014616

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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

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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

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:

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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

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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 ²⁹	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	Year
1	Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )	Zernov N.V....Zinchenko R.A.	2016
2	Marie-Unna hereditary hypotrichosis or autosomal recessive hereditary hypotrichosis with woolly hair: the diagnostic dilemma of labeling cases with hypotrichosis. ( 22082473 )	Al Aboud K....Al Aboud D.	2011

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Genes for Hypotrichosis 13

Genes related to Hypotrichosis 13 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KRT71	Keratin 71	Protein Coding	1376.86	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	22592156
2	KRT25	Keratin 25	Protein Coding	18.59	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	LIPH	Lipase H	Protein Coding	17.42	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	KRT74	Keratin 74	Protein Coding	17.34	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	SCGB2A1	Secretoglobin Family 2A Member 1	Protein Coding	6.7	DISEASES inferred ¹⁵

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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

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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	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.25	KRT25 KRT71 KRT74

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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	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

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Sources for Hypotrichosis 13

¹ BioSystems

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⁵⁹ Orphanet

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia