Details of Disease | DrugMAP

General Information of Disease (ID: DISTWYN7)

Disease Name	Isolated familial wooly hair disorder
Synonyms	hereditary wooly hair (autosomal dominant); wooly hair syndrome; hereditary woolly hair (autosomal dominant); woolly hair syndrome; familial wooly hair (autosomal recessive); familial woolly hair (autosomal recessive); wooly hair, autosomal dominant; ADWH; woolly hair, autosomal dominant; hereditary woolly hair syndrome; wooly hair; hereditary wooly hair syndrome; woolly hair; familial woolly hair syndrome; familial wooly hair syndrome
Definition	Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.
Disease Hierarchy	DISRPL2H: Hair anomaly DISTWYN7: Isolated familial wooly hair disorder
Disease Identifiers	MONDO ID MONDO_0008686 UMLS CUI C0343073 MedGen ID 87469 HPO ID HP:0002224 Orphanet ID 170

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LPAR6	TTZDAGB	Supportive	Autosomal dominant	[1]
HRAS	TT28ZON	Strong	Biomarker	[2]
LPAR6	TTZDAGB	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT25	OT4JMRN6	Supportive	Autosomal dominant	[3]
KRT71	OTI91X9Z	Supportive	Autosomal dominant	[4]
KRT74	OT9MEIJ1	Supportive	Autosomal dominant	[5]
LIPH	OTRGYLKL	Supportive	Autosomal dominant	[1]
LPAR6	OT4BY3W4	Supportive	Autosomal dominant	[1]
CCDC47	OTUIN61P	Strong	Biomarker	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21.
2	Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.Hum Mol Genet. 2014 Jan 15;23(2):397-407. doi: 10.1093/hmg/ddt429. Epub 2013 Sep 4.
3	A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet. 2015 Oct;52(10):676-80. doi: 10.1136/jmedgenet-2015-103255. Epub 2015 Jul 9.
4	A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. J Invest Dermatol. 2012 Oct;132(10):2342-2349. doi: 10.1038/jid.2012.154. Epub 2012 May 17.
5	Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Am J Hum Genet. 2010 Apr 9;86(4):632-8. doi: 10.1016/j.ajhg.2010.02.025. Epub 2010 Mar 25.
6	Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.