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TCMGLY
MCID: TRC077
MIFTS: 40

Trichomegaly (TCMGLY)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Trichomegaly

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MalaCards integrated aliases for Trichomegaly:

Name: Trichomegaly 56 73 36 29 54 6 39
Long Eyelashes 73 29 6
Goldstein Hutt Syndrome 73 71
Tcmgly 56 73
Familial Isolated Trichomegaly 58
Eyelashes, Long 56
Movie Lashes 73

Characteristics:

Orphanet epidemiological data:

58
familial isolated trichomegaly
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
trichomegaly:
Inheritance autosomal dominant 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 56 190330
KEGG 36 H01905
MeSH 43 D005128
Orphanet 58 ORPHA411788
MedGen 41 C0854699
UMLS 71 C2931465
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Summaries for Trichomegaly

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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, skin and lung, and related phenotypes are cataract and long eyelashes

OMIM : 56 Trichomegaly (TCMGLY), or excessively long eyelashes, is a rare familial trait (Higgins et al., 2014). (190330)

UniProtKB/Swiss-Prot : 73 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 : 74 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

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 29.8 FGF5 ARID1B
2 hereditary spherocytosis 29.0 RPS23 FGF5
3 brachycephaly, trichomegaly, and developmental delay 12.6
4 oliver-mcfarlane syndrome 12.4
5 familial isolated trichomegaly 12.4
6 laurence-moon syndrome 11.7
7 floating-harbor syndrome 11.4
8 acromicric dysplasia 11.3
9 wiedemann-steiner syndrome 11.2
10 pnpla6-related disorders 11.2
11 kabuki syndrome 1 11.1
12 rubinstein-taybi syndrome 1 11.1
13 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.1
14 cohen syndrome 11.1
15 filippi syndrome 11.1
16 phelan-mcdermid syndrome 11.1
17 rubinstein-taybi syndrome 2 11.1
18 chops syndrome 11.1
19 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 11.1
20 cornelia de lange syndrome 11.1
21 7q11.23 duplication syndrome 11.1
22 pacs1 syndrome 11.1
23 immune deficiency disease 10.4
24 alopecia 10.4
25 acquired immunodeficiency syndrome 10.3
26 lung cancer 10.3
27 small cell cancer of the lung 10.2
28 retinitis pigmentosa 10.2
29 exanthem 10.2
30 neuroretinitis 10.2
31 retinitis 10.2
32 alopecia areata 10.2
33 facial hypertrichosis 10.1
34 systemic lupus erythematosus 10.1
35 porphyria cutanea tarda 10.1
36 anorexia nervosa 10.1
37 oculocutaneous albinism 10.1
38 dermatomyositis 10.1
39 uveitis 10.1
40 porphyria 10.1
41 hypothyroidism 10.1
42 conjunctivitis 10.1
43 cataract 10.1
44 corneal ulcer 10.1
45 albinism 10.1
46 neurofibromatosis, type ii 10.0
47 colorectal cancer 10.0
48 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
49 albinism, oculocutaneous, type ia 10.0
50 myxedema 10.0

Graphical network of the top 20 diseases related to Trichomegaly:



Diseases related to Trichomegaly
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Symptoms & Phenotypes for Trichomegaly

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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:

56
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

MGI Mouse Phenotypes related to Trichomegaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ARID1B EGFR FGF5 PNPLA6
Sources

Drugs & Therapeutics for Trichomegaly

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Search Clinical Trials , NIH Clinical Center for Trichomegaly

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Genetic Tests for Trichomegaly

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Genetic tests related to Trichomegaly:

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

Anatomical Context for Trichomegaly

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MalaCards organs/tissues related to Trichomegaly:

40
Eye, Skin, Lung, Retina, Heart, Pancreas, Breast
Sources

Publications for Trichomegaly

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Articles related to Trichomegaly:

(show top 50) (show all 140)
# Title Authors PMID Year
1
FGF5 is a crucial regulator of hair length in humans. 61 6 56
24989505 2014
2
Familial trichomegaly. 56 61
9400804 1997
3
Trichomegaly, cataract, and hereditary spherocytosis in two siblings. 61 56
5013247 1972
4
Erlotinib-induced trichomegaly in a male patient with pancreatic cancer. 54 61
19954400 2010
5
Trichomegaly of the eyelashes after colorectal cancer treatment with the epidermal growth factor receptor inhibitor cetuximab. 54 61
19822516 2009
6
Trichomegaly in a 3-year-old girl with alopecia areata. 61 54
19419469 2009
7
Persistent hair growth during treatment with the EGFR inhibitor erlotinib. 54 61
19379648 2009
8
The cutaneous epidermal growth factor network: Can it be translated clinically to stimulate hair growth? 54 61
19379645 2009
9
Trichomegaly of the eyelashes after lung cancer treatment with the epidermal growth factor receptor inhibitor erlotinib. 61 54
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
17667622 2007
11
Ocular toxicities of epidermal growth factor receptor inhibitors and their management. 61 54
17666986 2007
12
Epidermal growth factor receptor inhibition induces trichomegaly. 61 54
12899508 2003
13
Severe onycholysis and eyelash trichomegaly in a patient treated with erdafitinib. 61
32509951 2020
14
First- and third- generation EGFR inhibitors mediate distinct phosphoprotein signalling networks: implications for adverse dermatologic reactions. 61
32479649 2020
15
Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth. 61
31736117 2020
16
The Trichoscopic Features of Hair Shaft Anomalies Induced by Epidermal Growth Factor Receptor Inhibitors: A Case Series. 61
32244022 2020
17
A Case of Familial Trichomegaly with Synophrys in Association with Loose Anagen Syndrome. 61
32477997 2020
18
Hedgehog-like moustache trichomegaly during treatment with vismodegib. 61
31393645 2020
19
Image Gallery: Swelling of the upper eyelid with trichomegaly revealing neurofibromatosis type 1. 61
31240700 2019
20
Trichomegaly induced by topical tacrolimus for the treatment of periorbital vitiligo: A brief report of a new adverse effect. 61
31070265 2019
21
Trichomegaly of the eyelashes induced by the epidermal growth factor receptor inhibitor cetuximab in the treatment of metastatic colorectal cancer. 61
31040141 2019
22
Periocular Manifestations of Afatinib Therapy. 61
30531213 2019
23
Alopecia and Hair Damage Induced by Oncological Therapy. 61
31610668 2019
24
OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA. 61
27930433 2018
25
Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. 61
29675643 2018
26
Longitudinal thumbnail fissures due to erlotinib therapy for lung cancer. 61
28436313 2018
27
Epidermal Growth Factor Receptor Inhibitor Induced Trichomegaly and Poliosis. 61
29389408 2018
28
Eyelashes Trichomegaly: An Unusual Side Effect of Gefitinib Therapy. 61
29440861 2018
29
Severe Onycholysis and Eyelash Trichomegaly Following Use of New Selective Pan-FGFR Inhibitors. 61
28538953 2017
30
Taiwanese Dermatological Association consensus for the prevention and management of epidermal growth factor receptor tyrosine kinase inhibitor-related skin toxicities. 61
28351555 2017
31
Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus. 61
28839394 2017
32
Isolated Unpigmented Trichomegaly of the Groin in 3 Patients. 61
28232920 2017
33
Familial eyelash trichomegaly: The case of a sister and a brother. 61
27506506 2016
34
Erlotinib-related keratopathy in a patient underwent laser in situ keratomileusis. 61
26340340 2016
35
Trichomegaly Induced by Cetuximab: Case Series and Review the Literature. 61
26079631 2016
36
Trichomegaly and scalp hair changes following treatment with erlotinib in pulmonary adenocarcinoma patients: A case report and literature review. 61
27588051 2016
37
Essential Trichomegaly of the Eyelashes. 61
27625571 2016
38
Adverse Reaction to Cetuximab, an Epidermal Growth Factor Receptor Inhibitor. 61
27149134 2016
39
A mitogen-activated protein kinase kinase inhibitor induced compound skin toxicity with oedema in metastatic malignant melanoma. 61
26411345 2016
40
Biology of the eyelash hair follicle: an enigma in plain sight. 61
26452071 2016
41
Cutaneous adverse events of epidermal growth factor receptor inhibitors: A retrospective review of 99 cases. 61
25994883 2015
42
Erlotinib-related keratopathy in a patient underwent laser in situ keratomileusis. 61
26264534 2015
43
Eyelash trichomegaly following treatment with erlotinib in a non-small cell lung cancer patient: A case report and literature review. 61
26622603 2015
44
Eyelash Trichomegaly. 61
26288407 2015
45
Dermatologic features of Smith-Magenis syndrome. 61
25684097 2015
46
Dermatologic adverse events in pediatric patients receiving targeted anticancer therapies: a pooled analysis. 61
25683226 2015
47
Madarosis, milphosis, eyelash trichomegaly, and dermatochalasis. 61
25704941 2015
48
Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation. 61
23952657 2015
49
Ocular side effects and trichomegaly of eyelashes induced by erlotinib: a case report and review of the literature. 61
25249292 2015
50
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. 61
25480986 2015
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Variations for Trichomegaly

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ClinVar genetic disease variations for Trichomegaly:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGF5 NM_004464.3(FGF5):c.459+1deldeletion Pathogenic 141410 rs587777579 4:81196167-81196167 4:80275013-80275013
2 FGF5 NM_004464.3(FGF5):c.160_161del (p.Met54fs)deletion Pathogenic 141411 rs587777580 4:81188137-81188138 4:80266983-80266984
3 FGF5 NM_004464.3(FGF5):c.520T>C (p.Tyr174His)SNV Pathogenic 141413 rs587777581 4:81207539-81207539 4:80286385-80286385
4 ARID1B NM_017519.2(ARID1B):c.2267_2269delinsTCCGCAGCCACTCC (p.Pro756fs)indel Pathogenic 242865 rs879253856 6:157431630-157431632 6:157110496-157110498
5 ARID1B NM_017519.2(ARID1B):c.3169_3170del (p.Lys1057fs)deletion Pathogenic 242864 rs879253745 6:157502174-157502175 6:157181040-157181041
6 ARID1B NM_017519.2(ARID1B):c.4234dup (p.Tyr1412fs)duplication Pathogenic 242866 rs879253746 6:157522000-157522001 6:157200866-157200867
7 ARID1B deletion Pathogenic 242863 6:157099064-158366109
8 ARID1B NM_017519.2(ARID1B):c.2902C>T (p.Gln968Ter)SNV Pathogenic 242867 rs879253747 6:157488235-157488235 6:157167101-157167101
9 46;XY;t(7;13)(p15.3;q14.1)dnTranslocation Pathogenic 267837
10 46;XY;t(7;15)(q21;q26)dnTranslocation Likely pathogenic 267856
11 46;X;t(X;12)(p11.2;q24.33)dnTranslocation Likely pathogenic 267860

UniProtKB/Swiss-Prot genetic disease variations for Trichomegaly:

73
# Symbol AA change Variation ID SNP ID
1 FGF5 p.Tyr174His VAR_072566 rs587777581

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Expression for Trichomegaly

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Search GEO for disease gene expression data for Trichomegaly.
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Pathways for Trichomegaly

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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
 11.8 FGF5 EGFR ARID1B
2
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11 EGFR ARID1B
3
Vemurafenib Pathway, Pharmacodynamics 60
10.26 FGF5 EGFR
Sources

GO Terms for Trichomegaly

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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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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