MCID: FML286
MIFTS: 34

Familial Isolated Trichomegaly

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Familial Isolated Trichomegaly

MalaCards integrated aliases for Familial Isolated Trichomegaly:

Name: Familial Isolated Trichomegaly 11 58 14
Long Eyelashes 11
Tcmgly 11

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0111566
Orphanet 58 ORPHA411788

Summaries for Familial Isolated Trichomegaly

Orphanet: 58 Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.

MalaCards based summary: Familial Isolated Trichomegaly, also known as long eyelashes, is related to trichomegaly and wiedemann-steiner syndrome. An important gene associated with Familial Isolated Trichomegaly is FGF5 (Fibroblast Growth Factor 5), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include skin, testis and pituitary, and related phenotypes are embryo and adipose tissue

Disease Ontology: 11 An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has material basis in homozygous or compund heterozygous mutation in FGF5 on chromosome 4q21.21.

Related Diseases for Familial Isolated Trichomegaly

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 trichomegaly 32.6 FGF5 ARID1B
2 wiedemann-steiner syndrome 31.9 SMC3 SMC1A KMT2A ARID1B
3 schuurs-hoeijmakers syndrome 31.8 PACS1 ANKRD11
4 kabuki syndrome 1 31.0 PAGR1 KMT2D KMT2A KDM6A CREBBP ANKRD11
5 cornelia de lange syndrome 30.5 SMC3 SMC1A RAD21 NIPBL KMT2A HDAC8
6 hypertrichosis 29.3 SMC3 SMC1A SMARCE1 NIPBL KMT2A FGF5
7 oliver-mcfarlane syndrome 11.3
8 floating-harbor syndrome 11.3
9 acromicric dysplasia 11.2
10 eyebrows, duplication of, with stretchable skin and syndactyly 11.1
11 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.1
12 rubinstein-taybi syndrome 1 11.0
13 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 11.0
14 cohen syndrome 11.0
15 filippi syndrome 11.0
16 congenital disorder of glycosylation, type iib 11.0
17 phelan-mcdermid syndrome 11.0
18 goldberg-shprintzen syndrome 11.0
19 williams-beuren region duplication syndrome 11.0
20 rubinstein-taybi syndrome 2 11.0
21 chops syndrome 11.0
22 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 11.0
23 mucopolysaccharidosis-plus syndrome 11.0
24 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 11.0
25 al gazali sabrinathan nair syndrome 11.0
26 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 11.0
27 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 11.0
28 core binding factor acute myeloid leukemia 10.3 RAD21 PAGR1
29 rubinstein taybi like syndrome 10.2 KMT2D KMT2A
30 interatrial communication 10.2 HDAC8 CREBBP
31 glass syndrome 10.2 SMC1A NIPBL ANKRD11
32 neonatal leukemia 10.2 KMT2A CREBBP
33 diaphragmatic hernia, congenital 10.2 SMC3 SMC1A NIPBL
34 cornelia de lange syndrome 2 10.2 SMC1A NIPBL CREBBP
35 bladder small cell carcinoma 10.2 KMT2D CREBBP
36 intellectual disability - hypoplastic corpus callosum - preauricular tag 10.2 CREBBP ARID1B
37 non-syndromic x-linked intellectual disability 93 10.2 KMT2D KMT2A
38 hair follicle neoplasm 10.2 PAGR1 CREBBP
39 trichorhinophalangeal syndrome, type ii 10.2 SMC3 SMC1A RAD21 NIPBL
40 ezb diffuse large b-cell lymphoma 10.2 KMT2D CREBBP
41 syndromic x-linked intellectual disability nascimento type 10.1 KMT2D KMT2A
42 corpus callosum, agenesis of 10.1 CREBBP ARID1B
43 chromosome 6q24-q25 deletion syndrome 10.1 TMEM242 ARID1B
44 cavernous sinus meningioma 10.1 SMARCE1 KMT2D
45 alpha-thalassemia 10.1 SRCAP SMC3 SMC1A NIPBL
46 acute myelomonocytic leukemia 10.1 KMT2A CREBBP
47 bartholin's gland adenoid cystic carcinoma 10.1 KDM6A CREBBP
48 high-grade b-cell lymphoma double-hit/triple-hit 10.1 KMT2D CREBBP
49 cornelia de lange syndrome 3 with or without midline brain defects 10.1 SMC3 SMC1A RAD21 NIPBL HDAC8
50 cornelia de lange syndrome 4 with or without midline brain defects 10.1 SMC3 SMC1A RAD21 NIPBL HDAC8

Graphical network of the top 20 diseases related to Familial Isolated Trichomegaly:



Diseases related to Familial Isolated Trichomegaly

Symptoms & Phenotypes for Familial Isolated Trichomegaly

GenomeRNAi Phenotypes related to Familial Isolated Trichomegaly according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ANKRD11 ARID1B CREBBP ERAS ESCO1 FGF5
2 no effect GR00402-S-2 10.15 ANKRD11 ARID1B CREBBP ERAS ESCO1 HDAC8

MGI Mouse Phenotypes related to Familial Isolated Trichomegaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.91 ANKRD11 CREBBP HDAC8 KDM6A KMT2A KMT2D
2 adipose tissue MP:0005375 9.87 ARID1B CREBBP ESCO1 KMT2D NIPBL SMC3
3 craniofacial MP:0005382 9.76 ANKRD11 CREBBP HDAC8 KDM6A KMT2A KMT2D
4 immune system MP:0005387 9.73 ANKRD11 ARID1B CREBBP KDM6A KMT2A KMT2D
5 mortality/aging MP:0010768 9.53 ANKRD11 ARID1B CREBBP HDAC8 KDM6A KMT2A

Drugs & Therapeutics for Familial Isolated Trichomegaly

Search Clinical Trials, NIH Clinical Center for Familial Isolated Trichomegaly

Genetic Tests for Familial Isolated Trichomegaly

Anatomical Context for Familial Isolated Trichomegaly

Organs/tissues related to Familial Isolated Trichomegaly:

MalaCards : Skin, Testis, Pituitary, Eye

Publications for Familial Isolated Trichomegaly

Articles related to Familial Isolated Trichomegaly:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Wiedemann-Steiner Syndrome: Case Report and Review of Literature. 62
36291481 2022
2
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome. 62
35762114 2022
3
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. 62
35879281 2022
4
Wiedemann-Steiner Syndrome 62
35617449 2022
5
Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes. 62
34919300 2022
6
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder. 62
35456494 2022
7
Lady with Long Eyelashes…! 62
35531491 2022
8
Ocular manifestations of Nabais Sa-de Vries Syndrome type 1. 62
35892095 2022
9
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. 62
34706719 2021
10
[Treatment and genetic analysis of a child with Kabuki syndrome type 2 and secondary pulmonary infection due to a de novo variant of KDM6A gene]. 62
34247377 2021
11
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome. 62
34795756 2021
12
Lower Eyelid Horizontal Tightening in Prostaglandin Associated Periorbitopathy. 62
32890116 2021
13
Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy. 62
33471954 2021
14
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature. 62
33776628 2021
15
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report. 62
33776627 2021
16
A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review. 62
34659104 2021
17
Floating-Harbor Syndrome: A Rare Case Report. 62
33623349 2020
18
Evaluating distribution and variation of strains near eyes in blinking using digital image correlation. 62
32207543 2020
19
A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome. 62
32328333 2020
20
[Floating-Harbor syndrome: a case report and literature review]. 62
31874661 2019
21
Clinical and molecular spectrum of CHOPS syndrome. 62
31058441 2019
22
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. 62
30349098 2019
23
Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome. 62
31620628 2019
24
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. 62
30587846 2019
25
Ophthalmologic findings in the Cornelia de Lange syndrome. 62
30767692 2019
26
Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. 62
29675643 2018
27
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. 62
29235540 2018
28
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 62
27759909 2017
29
Minor physical anomalies in neurodevelopmental disorders: a twin study. 62
29209412 2017
30
A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. 62
28878839 2017
31
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. 62
27852232 2016
32
Clicking Eyelids: A New Finding of Prostaglandin-Associated Periorbitopathy. 62
27055061 2016
33
[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America]. 62
26914082 2016
34
Eyelashes divert airflow to protect the eye. 62
25716186 2015
35
Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation. 62
23952657 2015
36
Ocular side effects and trichomegaly of eyelashes induced by erlotinib: a case report and review of the literature. 62
25249292 2015
37
The deletion 22q13 syndrome: a new case. 62
26043508 2015
38
De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features. 62
25606410 2014
39
PNPLA6 Disorders 62
25299038 2014
40
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 62
25168959 2014
41
Cornelia de-lange syndrome: a case report. 62
25206204 2013
42
Erlotinib induced trichomegaly of the eyelashes. 62
23390452 2013
43
Cetuximab-associated elongation of the eyelashes: case report and review of eyelash trichomegaly secondary to epidermal growth factor receptor inhibitors. 62
20726623 2011
44
Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity. 62
20684000 2010
45
De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature. 62
20575009 2010
46
Synophrys. 62
20152950 2010
47
Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6. 62
20358620 2010
48
Bilateral milia en plaque of the eyelids: long eyelashes and unibrow--case report and review of literature. 62
20100256 2010
49
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. 62
20018682 2010
50
A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation. 62
19772933 2009

Variations for Familial Isolated Trichomegaly

Expression for Familial Isolated Trichomegaly

Search GEO for disease gene expression data for Familial Isolated Trichomegaly.

Pathways for Familial Isolated Trichomegaly

Pathways related to Familial Isolated Trichomegaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 SMARCE1 KMT2D KMT2A KDM6A HDAC8 CREBBP
2 12.14 SMC3 SMC1A RAD21 KMT2A KDM6A CREBBP
3
Show member pathways
11.43 SMARCE1 CREBBP ARID1B
4 11.15 SRCAP SMC1A SMARCE1 KDM6A CREBBP
5
Show member pathways
10.82 SMC3 SMC1A RAD21 NIPBL
6 10.62 SMC3 SMC1A RAD21 NIPBL HDAC8 ESCO1
7 10.54 SMC3 SMC1A RAD21

GO Terms for Familial Isolated Trichomegaly

Cellular components related to Familial Isolated Trichomegaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.58 NIPBL KMT2D KMT2A KDM6A HDAC8 ESCO1
2 chromosome GO:0005694 10.07 SMC1A SMC3 RAD21 NIPBL HDAC8 ESCO1
3 nuclear matrix GO:0016363 10.01 RAD21 SMARCE1 SMC1A SMC3
4 MLL3/4 complex GO:0044666 9.8 PAGR1 KMT2D KDM6A
5 bBAF complex GO:0140092 9.76 SMARCE1 ARID1B
6 cohesin complex GO:0008278 9.73 RAD21 SMC1A SMC3
7 meiotic cohesin complex GO:0030893 9.35 RAD21 SMC1A SMC3
8 DNA packaging complex GO:0044815 9.33 SMC3 SMC1A ARID1B
9 histone methyltransferase complex GO:0035097 9.17 KDM6A KMT2A KMT2D PAGR1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 chromatin remodeling GO:0006338 10.08 SRCAP SMARCE1 KDM6A ARID1B
2 chromatin organization GO:0006325 9.97 SRCAP SMARCE1 KMT2D KMT2A KDM6A HDAC8
3 histone H3-K4 methylation GO:0051568 9.92 PAGR1 KMT2D KMT2A KDM6A
4 positive regulation of intracellular estrogen receptor signaling pathway GO:0033148 9.8 PAGR1 KMT2D
5 histone H3-K4 monomethylation GO:0097692 9.76 KMT2D KMT2A
6 mitotic sister chromatid cohesion GO:0007064 9.76 SMC3 SMC1A NIPBL ESCO1
7 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.73 RAD21 NIPBL
8 establishment of meiotic sister chromatid cohesion GO:0034089 9.73 SMC3 SMC1A RAD21
9 histone H3-K4 dimethylation GO:0044648 9.71 KMT2D KMT2A
10 establishment of mitotic sister chromatid cohesion GO:0034087 9.56 NIPBL RAD21 SMC1A SMC3
11 sister chromatid cohesion GO:0007062 9.28 SMC3 SMC1A RAD21 HDAC8 ESCO1

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

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.85 ARID1B CREBBP KMT2D SMARCE1 SRCAP
2 chromatin binding GO:0003682 9.8 CREBBP KMT2A NIPBL RAD21 SMARCE1 SMC1A
3 peptide-lysine-N-acetyltransferase activity GO:0061733 9.56 CREBBP ESCO1
4 mediator complex binding GO:0036033 9.1 NIPBL SMC1A SMC3

Sources for Familial Isolated Trichomegaly

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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