MCID: TRC077
MIFTS: 39

Trichomegaly

Categories: Genetic diseases, Skin diseases, Rare diseases, Eye 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 skin, lung and pituitary, 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

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

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
Skin, Lung, Pituitary, Retina, Pancreas, Eye

Publications for Trichomegaly

Articles related to Trichomegaly:

(show all 49)
# 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
Erlotinib-induced trichomegaly in a male patient with pancreatic cancer. ( 19954400 )
2010
31
Blepharitis and trichomegaly induced by cetuximab. ( 21308323 )
2010
32
Facial hypertrichosis and trichomegaly developing in patients treated with the epidermal growth factor receptor inhibitor erlotinib. ( 20633793 )
2010
33
A case of acquired trichomegaly following treatment with erlotinib. ( 21687012 )
2009
34
Trichomegaly in a 3-year-old girl with alopecia areata. ( 19419469 )
2009
35
Trichomegaly of the eyelashes after colorectal cancer treatment with the epidermal growth factor receptor inhibitor cetuximab. ( 19822516 )
2009
36
A case of trichomegaly of the eyelashes and facial hypertrichosis induced by erlotinib (Tarceva). ( 19126063 )
2009
37
Trichomegaly of the eyelashes after lung cancer treatment with the epidermal growth factor receptor inhibitor erlotinib. ( 18612164 )
2008
38
Acquired trichomegaly and symptomatic external ocular changes in patients receiving epidermal growth factor receptor inhibitors: case reports and a review of literature. ( 17667622 )
2007
39
Acquired eyelash trichomegaly and generalized hypertrichosis associated with breast anomaly. ( 16638412 )
2006
40
Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction). ( 16152639 )
2005
41
Long eyelashes in a case series of 93 children with vernal keratoconjunctivitis. ( 15629970 )
2005
42
A case of familial trichomegaly in association with oculocutaneous albinism type 1. ( 14752500 )
2004
43
Acquired trichomegaly of the eyelashes and hypertrichosis induced by bimatoprost. ( 15324422 )
2004
44
Hypotrichosis, long eyelashes and atopic dermatitis: a new syndrome? ( 15096163 )
2004
45
Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up. ( 12488276 )
2003
46
Very long eyelashes, long eyebrows, sparse hair, and mental retardation in two unrelated boys: An atypical form of Oliver-McFarlane syndrome without retinal degeneration, or a new clinical entity? ( 12838570 )
2003
47
Epidermal growth factor receptor inhibition induces trichomegaly. ( 12899508 )
2003
48
Acquired trichomegaly and hypertrichosis in metastatic adenocarcinoma. ( 7671421 )
1995
49
Congenital trichomegaly, pigmentary degeneration of the retina and growth retardation (Oliver-McFarlane syndrome): 28-year follow-up of the first reported case. ( 8343920 )
1993

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 18)
# 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
16 46;XY;t(7;13)(p15.3;q14.1)dn Translocation Pathogenic
17 46;XY;t(7;15)(q21;q26)dn Translocation Likely pathogenic
18 46;X;t(X;12)(p11.2;q24.33)dn Translocation Likely pathogenic

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 10.25 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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