TCMGLY
MCID: TRC077
MIFTS: 39

Trichomegaly (TCMGLY)

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

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:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 190330
KEGG 36 H01905
MeSH 44 D005128
Orphanet 58 ORPHA411788
MedGen 41 C0854699
UMLS 70 C2931465

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...

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:



Diseases related to Trichomegaly

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

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:

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

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
24989505 2014
2
Familial trichomegaly. 61 57
9400804 1997
3
Trichomegaly, cataract, and hereditary spherocytosis in two siblings. 61 57
5013247 1972
4
Erlotinib-induced trichomegaly in a male patient with pancreatic cancer. 61 54
19954400 2010
5
Trichomegaly of the eyelashes after colorectal cancer treatment with the epidermal growth factor receptor inhibitor cetuximab. 61 54
19822516 2009
6
The cutaneous epidermal growth factor network: Can it be translated clinically to stimulate hair growth? 61 54
19379645 2009
7
Persistent hair growth during treatment with the EGFR inhibitor erlotinib. 54 61
19379648 2009
8
Trichomegaly in a 3-year-old girl with alopecia areata. 61 54
19419469 2009
9
Trichomegaly of the eyelashes after lung cancer treatment with the epidermal growth factor receptor inhibitor erlotinib. 54 61
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. 54 61
17666986 2007
12
Epidermal growth factor receptor inhibition induces trichomegaly. 61 54
12899508 2003
13
Idiopathic, acquired, localised and transient trichomegaly. 61
33727305 2021
14
Eyelash trichomegaly associated with topical tacrolimus use in a patient with Sjogren's syndrome. 61
33780314 2021
15
Eyelash trichomegaly induced by erlotinib for metastatic lung cancer. 61
33568562 2021
16
Skin Toxicities During Colorectal Cancer Chemotherapy: Incidence and Pearls of Treatment in Our Experience. 61
32665093 2020
17
Dermatological side effects of targeted antineoplastic therapies: a prospective study. 61
33028137 2020
18
Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6. 61
32758583 2020
19
Trichomegaly Associated with Panitumumab. 61
33053288 2020
20
Trichomegaly induced by cetuximab. 61
32800413 2020
21
Prostaglandin-Associated Periorbitopathy in Children and Young Adults with Glaucoma. 61
33008561 2020
22
Severe onycholysis and eyelash trichomegaly in a patient treated with erdafitinib. 61
32509951 2020
23
Hypertrichosis, trichomegaly, and androgenic alopecia related to cetuximab treatment. 61
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
31736117 2020
25
A Case of Familial Trichomegaly with Synophrys in Association with Loose Anagen Syndrome. 61
32477997 2020
26
The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series. 61
32244022 2020
27
Hedgehog-like moustache trichomegaly during treatment with vismodegib. 61
31393645 2020
28
Image Gallery: Swelling of the upper eyelid with trichomegaly revealing neurofibromatosis type 1. 61
31240700 2019
29
Trichomegaly induced by topical tacrolimus for the treatment of periorbital vitiligo: A brief report of a new adverse effect. 61
31070265 2019
30
Trichomegaly of the eyelashes induced by the epidermal growth factor receptor inhibitor cetuximab in the treatment of metastatic colorectal cancer. 61
31040141 2019
31
Alopecia and Hair Damage Induced by Oncological Therapy. 61
31610668 2019
32
Periocular Manifestations of Afatinib Therapy. 61
30531213 2019
33
OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA. 61
27930433 2018
34
Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. 61
29675643 2018
35
Longitudinal thumbnail fissures due to erlotinib therapy for lung cancer. 61
28436313 2018
36
Epidermal Growth Factor Receptor Inhibitor Induced Trichomegaly and Poliosis. 61
29389408 2018
37
Eyelashes Trichomegaly: An Unusual Side Effect of Gefitinib Therapy. 61
29440861 2018
38
Severe Onycholysis and Eyelash Trichomegaly Following Use of New Selective Pan-FGFR Inhibitors. 61
28538953 2017
39
Taiwanese Dermatological Association consensus for the prevention and management of epidermal growth factor receptor tyrosine kinase inhibitor-related skin toxicities. 61
28351555 2017
40
Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus. 61
28839394 2017
41
Isolated Unpigmented Trichomegaly of the Groin in 3 Patients. 61
28232920 2017
42
Familial eyelash trichomegaly: The case of a sister and a brother. 61
27506506 2016
43
Erlotinib-related keratopathy in a patient underwent laser in situ keratomileusis. 61
26340340 2016
44
Trichomegaly and scalp hair changes following treatment with erlotinib in pulmonary adenocarcinoma patients: A case report and literature review. 61
27588051 2016
45
Trichomegaly Induced by Cetuximab: Case Series and Review the Literature. 61
26079631 2016
46
Essential Trichomegaly of the Eyelashes. 61
27625571 2016
47
Biology of the eyelash hair follicle: an enigma in plain sight. 61
26452071 2016
48
A mitogen-activated protein kinase kinase inhibitor induced compound skin toxicity with oedema in metastatic malignant melanoma. 61
26411345 2016
49
Adverse Reaction to Cetuximab, an Epidermal Growth Factor Receptor Inhibitor. 61
27149134 2016
50
Cutaneous adverse events of epidermal growth factor receptor inhibitors: A retrospective review of 99 cases. 61
25994883 2015

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

Expression for Trichomegaly

Search GEO for disease gene expression data for Trichomegaly.

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
Show member pathways
11.8 FGF5 EGFR ARID1B
2
Show member pathways
11 EGFR ARID1B
3 10.26 FGF5 EGFR

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 for Trichomegaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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