Trichomegaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

TCMGLY MCID: TRC077 MIFTS: 39	Trichomegaly (TCMGLY) Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Trichomegaly

MalaCards integrated aliases for Trichomegaly:

Name: Trichomegaly ⁵⁷ ⁷² ³⁶ ²⁹ ⁵⁴ ⁶ ³⁹

Long Eyelashes ⁷² ²⁹ ⁶

Goldstein Hutt Syndrome ⁷² ⁷⁰

Tcmgly ⁵⁷ ⁷²

Familial Isolated Trichomegaly ⁵⁸

Eyelashes, Long ⁵⁷

Movie Lashes ⁷²

Characteristics:

Orphanet epidemiological data:

⁵⁸

familial isolated trichomegaly
Inheritance: Autosomal recessive;

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

HPO:

³¹

trichomegaly:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

OMIM® ⁵⁷ 190330

KEGG ³⁶ H01905

MeSH ⁴⁴ D005128

Orphanet ⁵⁸ ORPHA411788

MedGen ⁴¹ C0854699

SNOMED-CT via HPO ⁶⁸ 128306009 193570009 247053007 more

UMLS ⁷⁰ C2931465

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Summaries for Trichomegaly

KEGG : ³⁶ Eyelash trichomegaly is defined as eyelashes which are found to be of increased length, thickness, and pigmentation. It can be present at birth as part of variety congenital syndromes or as a benign familial trait. Congenital syndromes that include eyelash trichomegaly as a defining diagnostic feature, are Oliver-McFarlane syndrome [DS:H01898] and Cornelia de Lange syndrome [DS:H00631]. It has been identified that mutations in FGF5 underlie the trichomegaly. There are also acquired conditions and drugs that are known to cause eyelash trichomegaly. For example, acquired conditions, such as allergic rhinitis, atopic dermatitis, HIV infection, and certain eye diseases, have commonly been reported to be associated with increased length of the eyelashes.

MalaCards based summary : Trichomegaly, also known as long eyelashes, is related to hypertrichosis and hereditary spherocytosis. An important gene associated with Trichomegaly is FGF5 (Fibroblast Growth Factor 5), and among its related pathways/superpathways are MAPK signaling pathway and Gastric cancer. Affiliated tissues include eye, lung and retina, and related phenotypes are cataract and long eyelashes

OMIM® : ⁵⁷ Trichomegaly (TCMGLY), or excessively long eyelashes, is a rare familial trait (Higgins et al., 2014). (190330) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : ⁷² Trichomegaly: A morphologic trait characterized by unusually long eyelashes and mild hypertrichosis of eyebrows. It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis.

Wikipedia : ⁷³ Trichomegaly is a congenital condition in which the eyelashes are abnormally long, greater than 12mm in... more...

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Related Diseases for Trichomegaly

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

(show top 50) (show all 90)

#	Related Disease	Score	Top Affiliating Genes
1	hypertrichosis	29.7	FGF5 ARID1B
2	hereditary spherocytosis	29.0	RPS23 FGF5
3	oliver-mcfarlane syndrome	11.7
4	brachycephaly, trichomegaly, and developmental delay	11.5
5	floating-harbor syndrome	11.2
6	acromicric dysplasia	11.2
7	familial isolated trichomegaly	11.1
8	wiedemann-steiner syndrome	11.1
9	laurence-moon syndrome	11.1
10	kabuki syndrome 1	10.9
11	rubinstein-taybi syndrome 1	10.9
12	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	10.9
13	cohen syndrome	10.9
14	filippi syndrome	10.9
15	phelan-mcdermid syndrome	10.9
16	rubinstein-taybi syndrome 2	10.9
17	chops syndrome	10.9
18	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	10.9
19	cornelia de lange syndrome	10.9
20	7q11.23 duplication syndrome	10.9
21	pacs1 syndrome	10.9
22	pnpla6-related disorders	10.9
23	alopecia	10.2
24	acquired immunodeficiency syndrome	10.1
25	immune deficiency disease	10.0
26	retinitis pigmentosa	10.0
27	exanthem	10.0
28	neuroretinitis	10.0
29	retinitis	10.0
30	alopecia areata	10.0
31	facial hypertrichosis	9.9
32	porphyria cutanea tarda	9.9
33	lung cancer	9.9
34	anorexia nervosa	9.9
35	oculocutaneous albinism	9.9
36	dermatomyositis	9.9
37	uveitis	9.9
38	porphyria	9.9
39	hypothyroidism	9.9
40	conjunctivitis	9.9
41	cataract	9.9
42	corneal ulcer	9.9
43	albinism	9.9
44	chronic conjunctivitis	9.9
45	dermatitis	9.9
46	hypotrichosis	9.9
47	alopecia, androgenetic, 1	9.8
48	colorectal cancer	9.8
49	systemic lupus erythematosus	9.8
50	small cell cancer of the lung	9.8

Graphical network of the top 20 diseases related to Trichomegaly:

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Symptoms & Phenotypes for Trichomegaly

Human phenotypes related to Trichomegaly:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	cataract ³¹		HP:0000518
2	long eyelashes ³¹		HP:0000527

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Face:
hypertrichosis of cheeks and forehead, mild

Skin Nails Hair Hair:
unusually long eyelashes
body hair longer than normal
increased variability in length of body hair
shift in anagen-to-telogen ratio towards anagen

Head And Neck Eyes:
unusually long eyelashes
hypertrichosis of eyebrows, mild

Clinical features from OMIM®:

190330 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Trichomegaly:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	8.92	ARID1B EGFR FGF5 PNPLA6

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Drugs & Therapeutics for Trichomegaly

Search Clinical Trials , NIH Clinical Center for Trichomegaly

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Genetic Tests for Trichomegaly

Genetic tests related to Trichomegaly:

#	Genetic test	Affiliating Genes
1	Long Eyelashes ²⁹
2	Trichomegaly ²⁹	FGF5

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Anatomical Context for Trichomegaly

MalaCards organs/tissues related to Trichomegaly:

⁴⁰

Eye, Lung, Retina, Skin, Heart, Pancreas, Breast

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Publications for Trichomegaly

Articles related to Trichomegaly:

(show top 50) (show all 148)

#	Title	Authors	PMID	Year
1	FGF5 is a crucial regulator of hair length in humans. ⁶ ⁵⁷ ⁶¹	Higgins CA...Christiano AM	24989505	2014
2	Familial trichomegaly. ⁶¹ ⁵⁷	Harrison DA...Mullaney PB	9400804	1997
3	Trichomegaly, cataract, and hereditary spherocytosis in two siblings. ⁶¹ ⁵⁷	Goldstein JH...Hutt AE	5013247	1972
4	Erlotinib-induced trichomegaly in a male patient with pancreatic cancer. ⁶¹ ⁵⁴	Saif MW...Gnanaraj J	19954400	2010
5	Trichomegaly of the eyelashes after colorectal cancer treatment with the epidermal growth factor receptor inhibitor cetuximab. ⁶¹ ⁵⁴	Bambury R...McCaffrey JA	19822516	2009
6	The cutaneous epidermal growth factor network: Can it be translated clinically to stimulate hair growth? ⁶¹ ⁵⁴	Alexandrescu DT...Dasanu CA	19379645	2009
7	Persistent hair growth during treatment with the EGFR inhibitor erlotinib. ⁵⁴ ⁶¹	Alexandrescu DT...Dasanu CA	19379648	2009
8	Trichomegaly in a 3-year-old girl with alopecia areata. ⁶¹ ⁵⁴	Nazareth MR...Rothman IL	19419469	2009
9	Trichomegaly of the eyelashes after lung cancer treatment with the epidermal growth factor receptor inhibitor erlotinib. ⁵⁴ ⁶¹	Braiteh F...Johnson FM	18612164	2008
10	Acquired trichomegaly and symptomatic external ocular changes in patients receiving epidermal growth factor receptor inhibitors: case reports and a review of literature. ⁶¹ ⁵⁴	Zhang G...Jampol LM	17667622	2007
11	Ocular toxicities of epidermal growth factor receptor inhibitors and their management. ⁵⁴ ⁶¹	Basti S	17666986	2007
12	Epidermal growth factor receptor inhibition induces trichomegaly. ⁶¹ ⁵⁴	Dueland S...Tveit KM	12899508	2003
13	Idiopathic, acquired, localised and transient trichomegaly. ⁶¹	Samia-Aly E...Mellington F	33727305	2021
14	Eyelash trichomegaly associated with topical tacrolimus use in a patient with Sjogren's syndrome. ⁶¹	Singh S...Basu S	33780314	2021
15	Eyelash trichomegaly induced by erlotinib for metastatic lung cancer. ⁶¹	Chan JYY...Yuen HKL	33568562	2021
16	Skin Toxicities During Colorectal Cancer Chemotherapy: Incidence and Pearls of Treatment in Our Experience. ⁶¹	Panariello L...Fabbrocini G	32665093	2020
17	Dermatological side effects of targeted antineoplastic therapies: a prospective study. ⁶¹	Agirgol S...Pilanci KN	33028137	2020
18	Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6. ⁶¹	Liu F...Sun Y	32758583	2020
19	Trichomegaly Associated with Panitumumab. ⁶¹	Goyal A...Blaes A	33053288	2020
20	Trichomegaly induced by cetuximab. ⁶¹	Crespo-Carballes MJ...Prieto-Del-Cura M	32800413	2020
21	Prostaglandin-Associated Periorbitopathy in Children and Young Adults with Glaucoma. ⁶¹	Kim JS...Freedman SF	33008561	2020
22	Severe onycholysis and eyelash trichomegaly in a patient treated with erdafitinib. ⁶¹	Deutsch A...McLellan BN	32509951	2020
23	Hypertrichosis, trichomegaly, and androgenic alopecia related to cetuximab treatment. ⁶¹	Turker S...Altinbas M	32719294	2020
24	Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth. ⁶¹	Urban J...Kiuru M	31736117	2020
25	A Case of Familial Trichomegaly with Synophrys in Association with Loose Anagen Syndrome. ⁶¹	Mathachan SR...Malhotra P	32477997	2020
26	The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series. ⁶¹	Kremer N...Amitay-Laish I	32244022	2020
27	Hedgehog-like moustache trichomegaly during treatment with vismodegib. ⁶¹	Riera-Monroig J...Carrera C	31393645	2020
28	Image Gallery: Swelling of the upper eyelid with trichomegaly revealing neurofibromatosis type 1. ⁶¹	Berthin C...Abasq-Thomas C	31240700	2019
29	Trichomegaly induced by topical tacrolimus for the treatment of periorbital vitiligo: A brief report of a new adverse effect. ⁶¹	Moles-Poveda P...Cowen EW	31070265	2019
30	Trichomegaly of the eyelashes induced by the epidermal growth factor receptor inhibitor cetuximab in the treatment of metastatic colorectal cancer. ⁶¹	Matos LV...Placido AN	31040141	2019
31	Alopecia and Hair Damage Induced by Oncological Therapy. ⁶¹	Jedlickova H...Maleckova A	31610668	2019
32	Periocular Manifestations of Afatinib Therapy. ⁶¹	Joganathan V...Norris JH	30531213	2019
33	OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA. ⁶¹	Caliskan S...Gurdal C	27930433	2018
34	Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. ⁶¹	Singh M...Pawar M	29675643	2018
35	Longitudinal thumbnail fissures due to erlotinib therapy for lung cancer. ⁶¹	Dasanu CA...Plaxe SC	28436313	2018
36	Epidermal Growth Factor Receptor Inhibitor Induced Trichomegaly and Poliosis. ⁶¹	Goyal S...Uwaydat SH	29389408	2018
37	Eyelashes Trichomegaly: An Unusual Side Effect of Gefitinib Therapy. ⁶¹	Agrawal CR...Kothiwal S	29440861	2018
38	Severe Onycholysis and Eyelash Trichomegaly Following Use of New Selective Pan-FGFR Inhibitors. ⁶¹	Betrian S...Sibaud V	28538953	2017
39	Taiwanese Dermatological Association consensus for the prevention and management of epidermal growth factor receptor tyrosine kinase inhibitor-related skin toxicities. ⁶¹	Chu CY...Wang WM	28351555	2017
40	Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus. ⁶¹	Dalal A...Sharma N	28839394	2017
41	Isolated Unpigmented Trichomegaly of the Groin in 3 Patients. ⁶¹	Grimalt R	28232920	2017
42	Familial eyelash trichomegaly: The case of a sister and a brother. ⁶¹	Tamer F...Yuksel ME	27506506	2016
43	Erlotinib-related keratopathy in a patient underwent laser in situ keratomileusis. ⁶¹	Kau HC...Tsai CC	26340340	2016
44	Trichomegaly and scalp hair changes following treatment with erlotinib in pulmonary adenocarcinoma patients: A case report and literature review. ⁶¹	Zheng H...Li B	27588051	2016
45	Trichomegaly Induced by Cetuximab: Case Series and Review the Literature. ⁶¹	Koksal UI...Demir G	26079631	2016
46	Essential Trichomegaly of the Eyelashes. ⁶¹	Fernandez-Crehuet P...Ruiz-Villaverde R	27625571	2016
47	Biology of the eyelash hair follicle: an enigma in plain sight. ⁶¹	Paus R...Izeta A	26452071	2016
48	A mitogen-activated protein kinase kinase inhibitor induced compound skin toxicity with oedema in metastatic malignant melanoma. ⁶¹	Thomas CL...Fearfield L	26411345	2016
49	Adverse Reaction to Cetuximab, an Epidermal Growth Factor Receptor Inhibitor. ⁶¹	Stulhofer Buzina D...Marinovic B	27149134	2016
50	Cutaneous adverse events of epidermal growth factor receptor inhibitors: A retrospective review of 99 cases. ⁶¹	Chanprapaph K...Vachiramon V	25994883	2015

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Genes for Trichomegaly

Genes related to Trichomegaly (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FGF5	Fibroblast Growth Factor 5	Protein Coding	1665.59	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24989505
2	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	400	Pathogenic ⁶
3	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	16.13	GeneCards inferred via : Disorders Variants (show sections)
4	RPS23	Ribosomal Protein S23	Protein Coding	15.66	GeneCards inferred via : Disorders Variants (show sections)
5	EGFR	Epidermal Growth Factor Receptor	Protein Coding	7.48	Novoseek inferred ⁵⁴	19379648 19379645 12899508 (more) 19822516 17666986 19954400 18612164 19419469 17667622

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Variations for Trichomegaly

ClinVar genetic disease variations for Trichomegaly:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ARID1B	NM_017519.2(ARID1B):c.2902C>T (p.Gln968Ter)	SNV	Pathogenic	242867	rs879253747	GRCh37: 6:157488235-157488235 GRCh38: 6:157167101-157167101
2	ARID1B	NM_017519.2(ARID1B):c.3169_3170del (p.Lys1057fs)	Deletion	Pathogenic	242864	rs879253745	GRCh37: 6:157502174-157502175 GRCh38: 6:157181040-157181041
3	ARID1B	NM_017519.2(ARID1B):c.2267_2269delinsTCCGCAGCCACTCC (p.Pro756fs)	Indel	Pathogenic	242865	rs879253856	GRCh37: 6:157431630-157431632 GRCh38: 6:157110496-157110498
4	overlap with 4 genes		Deletion	Pathogenic	242863		GRCh37: 6:157099064-158366109 GRCh38:
5	FGF5	NM_004464.3(FGF5):c.459+1del	Deletion	Pathogenic	141410	rs587777579	GRCh37: 4:81196167-81196167 GRCh38: 4:80275013-80275013
6	FGF5	NM_004464.3(FGF5):c.160_161del (p.Met54fs)	Deletion	Pathogenic	141411	rs587777580	GRCh37: 4:81188137-81188138 GRCh38: 4:80266983-80266984
7	ARID1B	NM_017519.2(ARID1B):c.4234dup (p.Tyr1412fs)	Duplication	Pathogenic	242866	rs879253746	GRCh37: 6:157522000-157522001 GRCh38: 6:157200866-157200867
8	FGF5	NM_033143.2(FGF5):c.*44T>C	SNV	Pathogenic	141413	rs587777581	GRCh37: 4:81207539-81207539 GRCh38: 4:80286385-80286385

UniProtKB/Swiss-Prot genetic disease variations for Trichomegaly:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	FGF5	p.Tyr174His	VAR_072566	rs587777581

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Expression for Trichomegaly

Search GEO for disease gene expression data for Trichomegaly.

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Pathways for Trichomegaly

Pathways related to Trichomegaly according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	MAPK signaling pathway	hsa04010

Pathways related to Trichomegaly according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	11.8	FGF5 EGFR ARID1B
2	Transcription Ligand-dependent activation of the ESR1/SP pathway ²³ Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²³	11	EGFR ARID1B
3	Vemurafenib Pathway, Pharmacodynamics ⁶⁰	10.26	FGF5 EGFR

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GO Terms for Trichomegaly

Biological processes related to Trichomegaly according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of protein kinase B signaling	GO:0051897	8.62	FGF5 EGFR

Sources

Sources for Trichomegaly

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia