TCMGLY
MCID: TRC077
MIFTS: 41

Trichomegaly (TCMGLY)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Trichomegaly

MalaCards integrated aliases for Trichomegaly:

Name: Trichomegaly 57 75 37 29 55 6 40
Long Eyelashes 75 29 6
Goldstein Hutt Syndrome 75 73
Tcmgly 57 75
Familial Isolated Trichomegaly 59
Eyelashes, Long 57
Movie Lashes 75

Characteristics:

Orphanet epidemiological data:

59
familial isolated trichomegaly
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive



Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 190330
Orphanet 59 ORPHA411788
MedGen 42 C0854699
MeSH 44 D005128
KEGG 37 H01905
UMLS 73 C2931465

Summaries for Trichomegaly

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Trichomegaly, also known as long eyelashes, is related to brachycephaly, trichomegaly, and developmental delay and trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. 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, skin and lung, and related phenotypes are cataract and long eyelashes

Wikipedia : 76 Trichomegaly is a congenital condition in which the eyelashes are abnormally long, greater than 12mm in... more...

Description from OMIM: 190330

Related Diseases for Trichomegaly

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 brachycephaly, trichomegaly, and developmental delay 12.4
2 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 12.2
3 oliver-mcfarlane syndrome 12.2
4 laurence-moon syndrome 11.2
5 acromicric dysplasia 11.1
6 floating-harbor syndrome 11.1
7 wiedemann-steiner syndrome 11.1
8 kabuki syndrome 1 10.9
9 rubinstein-taybi syndrome 1 10.9
10 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 10.9
11 cohen syndrome 10.9
12 filippi syndrome 10.9
13 phelan-mcdermid syndrome 10.9
14 rubinstein-taybi syndrome 2 10.9
15 hypertrichosis 10.2
16 lung cancer 10.2
17 alopecia 10.2
18 small cell cancer of the lung 10.1
19 alopecia areata 10.1
20 colorectal cancer 10.0
21 facial hypertrichosis 10.0
22 retinitis pigmentosa 10.0
23 leber congenital amaurosis 4 10.0
24 cataract 10.0
25 adenocarcinoma 10.0
26 retinitis 10.0
27 acquired immunodeficiency syndrome 10.0
28 systemic lupus erythematosus 9.9
29 albinism, oculocutaneous, type ia 9.9
30 pancreatic cancer 9.9
31 hepatitis 9.9
32 oculocutaneous albinism 9.9
33 autosomal recessive disease 9.9
34 ptosis 9.9
35 dermatomyositis 9.9
36 hereditary spherocytosis 9.9
37 uveitis 9.9
38 hepatitis c 9.9
39 pituitary gland disease 9.9
40 retinal degeneration 9.9
41 lupus erythematosus 9.9
42 viral infectious disease 9.9
43 blepharitis 9.9
44 albinism 9.9
45 dwarfism 9.9
46 dermatitis, atopic 9.8
47 dermatitis 9.8
48 hypotrichosis 9.8
49 keratoconjunctivitis 9.8
50 degos 'en cocarde' erythrokeratoderma 9.8

Graphical network of the top 20 diseases related to Trichomegaly:



Diseases related to Trichomegaly

Symptoms & Phenotypes for Trichomegaly

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Trichomegaly:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 long eyelashes 32 HP:0000527

Drugs & Therapeutics for Trichomegaly

Search Clinical Trials , NIH Clinical Center for Trichomegaly

Genetic Tests for Trichomegaly

Genetic tests related to Trichomegaly:

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

Anatomical Context for Trichomegaly

MalaCards organs/tissues related to Trichomegaly:

41
Eye, Skin, Lung, Retina, Pituitary, Pancreas

Publications for Trichomegaly

Articles related to Trichomegaly:

(show top 50) (show all 86)
# Title Authors Year
1
Eyelashes Trichomegaly: An Unusual Side Effect of Gefitinib Therapy. ( 29440861 )
2018
2
Epidermal Growth Factor Receptor Inhibitor Induced Trichomegaly and Poliosis. ( 29389408 )
2018
3
Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus. ( 28839394 )
2017
4
Severe Onycholysis and Eyelash Trichomegaly Following Use of New Selective Pan-FGFR Inhibitors. ( 28538953 )
2017
5
Isolated Unpigmented Trichomegaly of the Groin in 3 Patients. ( 28232920 )
2017
6
Trichomegaly and scalp hair changes following treatment with erlotinib in pulmonary adenocarcinoma patients: A case report and literature review. ( 27588051 )
2016
7
Familial eyelash trichomegaly: The case of a sister and a brother. ( 27506506 )
2016
8
Essential Trichomegaly of the Eyelashes. ( 27625571 )
2016
9
Madarosis, milphosis, eyelash trichomegaly, and dermatochalasis. ( 25704941 )
2015
10
Eyelash Trichomegaly. ( 26288407 )
2015
11
Trichomegaly Induced by Cetuximab: Case Series and Review the Literature. ( 26079631 )
2015
12
Eyelash trichomegaly following treatment with erlotinib in a non-small cell lung cancer patient: A case report and literature review. ( 26622603 )
2015
13
Ocular side effects and trichomegaly of eyelashes induced by erlotinib: a case report and review of the literature. ( 25249292 )
2015
14
Acquired trichomegaly: trichomegaly secondary to erlotinib. ( 25078467 )
2014
15
Neuroimaging features in congenital trichomegaly: the Oliver-McFarlane syndrome. ( 23621792 )
2014
16
Epidermal growth factor receptor inhibitors related trichomegaly of Eyelashes. ( 25988043 )
2014
17
Trichomegaly of eyelashes after treatment with erlotinib in carcinoma pancreas. ( 25114450 )
2014
18
Eyelash trichomegaly: report of a case following diffuse hair loss associated with transient malnutrition. ( 23834658 )
2013
19
Erlotinib induced trichomegaly of the eyelashes. ( 23390452 )
2013
20
Congenital polycoria, trichomegaly, and hereditary congenital cataract. ( 24321426 )
2013
21
Oliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation. ( 23952657 )
2013
22
Essential trichomegaly: case report. ( 23812530 )
2013
23
Trichomegaly and other external eye side effects associated with epidermal growth factor. ( 22122121 )
2012
24
Long-term follow-up of previously reported case of trichomegaly associated with alopecia areata in a 3-year-old girl. ( 22409476 )
2012
25
Trichomegaly of the eyelashes during therapy with epidermal growth factor receptor inhibitors: report of 3 cases. ( 23010833 )
2012
26
Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes. ( 22607279 )
2012
27
Epidermal growth factor receptor-induced hirsutism and trichomegaly. ( 22033260 )
2011
28
Eyelash trichomegaly secondary to panitumumab therapy. ( 21655160 )
2011
29
Trichomegaly and poliosis of the eyelashes during cetuximab treatment of metastatic colorectal cancer. ( 21483009 )
2011
30
Triad of trichomegaly, alopecia and male-pattern hair growth during treatment with erlotinib in non-small-cell lung cancer. ( 20108129 )
2011
31
Cetuximab-associated elongation of the eyelashes: case report and review of eyelash trichomegaly secondary to epidermal growth factor receptor inhibitors. ( 20726623 )
2011
32
Erlotinib-induced trichomegaly in a male patient with pancreatic cancer. ( 19954400 )
2010
33
Blepharitis and trichomegaly induced by cetuximab. ( 21308323 )
2010
34
Facial hypertrichosis and trichomegaly developing in patients treated with the epidermal growth factor receptor inhibitor erlotinib. ( 20633793 )
2010
35
Characterization of an in vivo model for the study of eyelash biology and trichomegaly: mouse eyelash morphology, development, growth cycle, and anagen prolongation by bimatoprost. ( 20346040 )
2010
36
Bilateral milia en plaque of the eyelids: long eyelashes and unibrow--case report and review of literature. ( 20100256 )
2010
37
A case of acquired trichomegaly following treatment with erlotinib. ( 21687012 )
2009
38
Trichomegaly in a 3-year-old girl with alopecia areata. ( 19419469 )
2009
39
Trichomegaly of the eyelashes after colorectal cancer treatment with the epidermal growth factor receptor inhibitor cetuximab. ( 19822516 )
2009
40
A case of trichomegaly of the eyelashes and facial hypertrichosis induced by erlotinib (Tarceva). ( 19126063 )
2009
41
Trichomegaly of the eyelashes following treatment with cetuximab. ( 19120397 )
2009
42
Progressive trichomegaly. ( 19155549 )
2009
43
Trichomegaly secondary to erlotinib. ( 20052001 )
2009
44
Trichomegaly of the eyelashes after lung cancer treatment with the epidermal growth factor receptor inhibitor erlotinib. ( 18612164 )
2008
45
Isolated trichomegaly causing mechanical ptosis. ( 19043955 )
2008
46
Trichomegaly induced by erlotinib. ( 18716976 )
2008
47
Acquired trichomegaly and symptomatic external ocular changes in patients receiving epidermal growth factor receptor inhibitors: case reports and a review of literature. ( 17667622 )
2007
48
Erlotinib-associated trichomegaly. ( 17237698 )
2007
49
Acquired trichomegaly in uveitis. ( 17361249 )
2007
50
Eyelash and eyebrow trichomegaly induced by interferon-alfa 2a. ( 17509059 )
2007

Variations for Trichomegaly

UniProtKB/Swiss-Prot genetic disease variations for Trichomegaly:

75
# Symbol AA change Variation ID SNP ID
1 FGF5 p.Tyr174His VAR_072566 rs587777581

ClinVar genetic disease variations for Trichomegaly:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF5 NM_004464.3(FGF5): c.459+1delG deletion Pathogenic rs587777579 GRCh37 Chromosome 4, 81196167: 81196167
2 FGF5 NM_004464.3(FGF5): c.459+1delG deletion Pathogenic rs587777579 GRCh38 Chromosome 4, 80275013: 80275013
3 FGF5 NM_004464.3(FGF5): c.160_161delAT (p.Met54Valfs) deletion Pathogenic rs587777580 GRCh37 Chromosome 4, 81188138: 81188139
4 FGF5 NM_004464.3(FGF5): c.160_161delAT (p.Met54Valfs) deletion Pathogenic rs587777580 GRCh38 Chromosome 4, 80266984: 80266985
5 FGF5 NM_004464.3(FGF5): c.520T> C (p.Tyr174His) single nucleotide variant Pathogenic rs587777581 GRCh37 Chromosome 4, 81207539: 81207539
6 FGF5 NM_004464.3(FGF5): c.520T> C (p.Tyr174His) single nucleotide variant Pathogenic rs587777581 GRCh38 Chromosome 4, 80286385: 80286385
7 ARID1B NM_020732.3(ARID1B): c.2306_2308delCCGinsTCCGCAGCCACTCC (p.Pro769Leufs) indel Pathogenic rs879253856 GRCh37 Chromosome 6, 157431630: 157431632
8 ARID1B NM_020732.3(ARID1B): c.2306_2308delCCGinsTCCGCAGCCACTCC (p.Pro769Leufs) indel Pathogenic rs879253856 GRCh38 Chromosome 6, 157110496: 157110498
9 ARID1B NM_020732.3(ARID1B): c.3208_3209delAA (p.Lys1070Alafs) deletion Pathogenic rs879253745 GRCh37 Chromosome 6, 157502175: 157502176
10 ARID1B NM_020732.3(ARID1B): c.3208_3209delAA (p.Lys1070Alafs) deletion Pathogenic rs879253745 GRCh38 Chromosome 6, 157181041: 157181042
11 ARID1B NM_020732.3(ARID1B): c.4273dupT (p.Tyr1425Leufs) duplication Pathogenic rs879253746 GRCh37 Chromosome 6, 157522001: 157522001
12 ARID1B NM_020732.3(ARID1B): c.4273dupT (p.Tyr1425Leufs) duplication Pathogenic rs879253746 GRCh38 Chromosome 6, 157200867: 157200867
13 ARID1B NC_000006.11: g.(?_157099064)_(158366109_?)del deletion Pathogenic GRCh37 Chromosome 6, 157099064: 158366109
14 ARID1B NM_020732.3(ARID1B): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs879253747 GRCh37 Chromosome 6, 157488235: 157488235
15 ARID1B NM_020732.3(ARID1B): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs879253747 GRCh38 Chromosome 6, 157167101: 157167101

Expression for Trichomegaly

Search GEO for disease gene expression data for Trichomegaly.

Pathways for Trichomegaly

Pathways related to Trichomegaly according to KEGG:

37
# 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
Show member pathways
11.8 ARID1B EGFR FGF5
2
Show member pathways
11 ARID1B EGFR
3 10.4 EGFR FGF5
4 10.25 EGFR FGF5

GO Terms for Trichomegaly

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

# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.16 EGFR FGF5
2 positive regulation of protein kinase B signaling GO:0051897 8.96 EGFR FGF5
3 phosphatidylinositol phosphorylation GO:0046854 8.62 EGFR FGF5

Molecular functions related to Trichomegaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.16 EGFR FGF5
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.96 EGFR FGF5
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.62 EGFR FGF5

Sources for Trichomegaly

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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