MCID: FML286
MIFTS: 30

Familial Isolated Trichomegaly

Categories: Eye diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Familial Isolated Trichomegaly

MalaCards integrated aliases for Familial Isolated Trichomegaly:

Name: Familial Isolated Trichomegaly 12 15
Long Eyelashes 12
Tcmgly 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111566

Summaries for Familial Isolated Trichomegaly

Disease Ontology : 12 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.

MalaCards based summary : Familial Isolated Trichomegaly, also known as long eyelashes, is related to wiedemann-steiner syndrome and cornelia de lange syndrome. An important gene associated with Familial Isolated Trichomegaly is PAGR1 (PAXIP1 Associated Glutamate Rich Protein 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include skin, eye and testis, and related phenotypes are embryo and craniofacial

Related Diseases for Familial Isolated Trichomegaly

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 wiedemann-steiner syndrome 32.2 SMC3 SMC1A
2 cornelia de lange syndrome 29.9 SMC3 SMC1A RAD21 PDS5A NIPBL HDAC8
3 oliver-mcfarlane syndrome 12.0
4 trichomegaly 11.5
5 floating-harbor syndrome 11.4
6 acromicric dysplasia 11.3
7 kabuki syndrome 1 11.1
8 rubinstein-taybi syndrome 1 11.1
9 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.1
10 cohen syndrome 11.1
11 filippi syndrome 11.1
12 phelan-mcdermid syndrome 11.1
13 rubinstein-taybi syndrome 2 11.1
14 chops syndrome 11.1
15 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 11.1
16 7q11.23 duplication syndrome 11.1
17 pacs1 syndrome 11.1
18 partial trisomy distal 4q 10.3 PES1 NIPBL
19 cornelia de lange syndrome 1 10.2 RAD21 NIPBL HDAC8
20 osgood-schlatter's disease 10.2 PES1 ESCO1
21 eyelid disease 10.1 SMC3 SMC1A PES1 NIPBL
22 diaphragmatic hernia, congenital 10.1 SMC3 SMC1A PES1 NIPBL
23 orofacial cleft 10.0 PES1 PAGR1 NIPBL ESCO2
24 dermatitis, atopic 9.9
25 chronic conjunctivitis 9.9
26 dermatitis 9.9
27 hypotrichosis 9.9
28 conjunctivitis 9.9
29 retinal degeneration 9.9
30 keratoconjunctivitis 9.9
31 vernal keratoconjunctivitis 9.9
32 hair follicle neoplasm 9.9 PAGR1 CREBBP
33 serine deficiency 9.8 SUMF2 MRPS17
34 atrial heart septal defect 9.8 SHOC2 PES1 PAGR1 NIPBL CREBBP
35 phosphoserine phosphatase deficiency 9.7 SUMF2 MRPS17
36 holoprosencephaly 9.7 SMC3 SMC1A RAD21 KMT2D
37 chromosome 16p13.3 deletion syndrome, proximal 9.5 PAGR1 NIPBL KMT2D HDAC8 CREBBP
38 chronic atrial and intestinal dysrhythmia 9.5 SMC3 SMC1A RAD21 PDS5A NIPBL HDAC8
39 kbg syndrome 9.5 SMC3 SMC1A RAD21 NIPBL KMT2D HDAC8
40 sc phocomelia syndrome 9.5 SMC3 SMC1A RAD21 PDS5A NIPBL ESCO2
41 warsaw breakage syndrome 9.5 SMC3 SMC1A RAD21 PDS5A NIPBL ESCO2
42 microcephaly 9.3 SMC1A PAGR1 NIPBL HDAC8 ESCO2 CREBBP
43 roberts syndrome 9.3 SMC3 SMC1A RAD21 PDS5A NIPBL HDAC8
44 autosomal dominant non-syndromic intellectual disability 9.1 TMEM242 SMC3 SMC1A RAD21 NIPBL KMT2D

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



Diseases related to Familial Isolated Trichomegaly

Symptoms & Phenotypes for Familial Isolated Trichomegaly

MGI Mouse Phenotypes related to Familial Isolated Trichomegaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.81 CREBBP ESCO2 HDAC8 KMT2D NIPBL PAGR1
2 craniofacial MP:0005382 9.8 CREBBP HDAC8 KMT2D NIPBL PDS5A PES1
3 growth/size/body region MP:0005378 9.73 ARID1B CREBBP ESCO1 ESCO2 HDAC8 KMT2D
4 mortality/aging MP:0010768 9.44 ARID1B CREBBP ESCO2 HDAC8 KMT2D NIPBL

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

MalaCards organs/tissues related to Familial Isolated Trichomegaly:

40
Skin, Eye, Testis, Pituitary

Publications for Familial Isolated Trichomegaly

Articles related to Familial Isolated Trichomegaly:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Evaluating distribution and variation of strains near eyes in blinking using digital image correlation. 61
32207543 2020
2
A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome. 61
32328333 2020
3
[Floating-Harbor syndrome: a case report and literature review]. 61
31874661 2019
4
Clinical and molecular spectrum of CHOPS syndrome. 61
31058441 2019
5
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. 61
30349098 2019
6
Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome. 61
31620628 2019
7
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. 61
30587846 2019
8
Ophthalmologic findings in the Cornelia de Lange syndrome. 61
30767692 2019
9
Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. 61
29675643 2018
10
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. 61
29235540 2018
11
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 61
27759909 2017
12
A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. 61
28878839 2017
13
Minor physical anomalies in neurodevelopmental disorders: a twin study. 61
29209412 2017
14
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. 61
27852232 2016
15
Clicking Eyelids: A New Finding of Prostaglandin-Associated Periorbitopathy. 61
27055061 2016
16
[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America]. 61
26914082 2016
17
Eyelashes divert airflow to protect the eye. 61
25716186 2015
18
Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation. 61
23952657 2015
19
Ocular side effects and trichomegaly of eyelashes induced by erlotinib: a case report and review of the literature. 61
25249292 2015
20
The deletion 22q13 syndrome: a new case. 61
26043508 2015
21
De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features. 61
25606410 2014
22
PNPLA6-Related Disorders 61
25299038 2014
23
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 61
25168959 2014
24
Cornelia de-lange syndrome: a case report. 61
25206204 2013
25
Erlotinib induced trichomegaly of the eyelashes. 61
23390452 2013
26
Cetuximab-associated elongation of the eyelashes: case report and review of eyelash trichomegaly secondary to epidermal growth factor receptor inhibitors. 61
20726623 2011
27
Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity. 61
20684000 2010
28
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. 61
20575009 2010
29
Synophrys. 61
20152950 2010
30
Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6. 61
20358620 2010
31
Bilateral milia en plaque of the eyelids: long eyelashes and unibrow--case report and review of literature. 61
20100256 2010
32
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. 61
20018682 2010
33
A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation. 61
19772933 2009
34
Coats' disease, megalopapilla and Cornelia de Lange syndrome. 61
19373684 2009
35
Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome? 61
19012336 2008
36
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report. 61
19014423 2008
37
Estimating corneal surface topography in videokeratoscopy in the presence of strong signal interference. 61
18838363 2008
38
2q24-q31 deletion: report of a case and review of the literature. 61
17088112 2007
39
A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype. 61
16470853 2006
40
Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction). 61
16152639 2005
41
Cornelia de Lange Syndrome 61
20301283 2005
42
Tetraploid/diploid mosaicism with generalized aggressive periodontitis. 61
16171449 2005
43
Long eyelashes in a case series of 93 children with vernal keratoconjunctivitis. 61
15629970 2005
44
Hypertrichosis, Fallot tetralogy, growth and developmental delay. 61
15365462 2004
45
Eyelash length in children and adolescents with allergic diseases. 61
15461756 2004
46
Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. 61
15194949 2004
47
[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]. 61
15138652 2004
48
Hypotrichosis, long eyelashes and atopic dermatitis: a new syndrome? 61
15096163 2004
49
Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome. 61
12955770 2003
50
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? 61
12838570 2003

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

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 nucleus GO:0005634 10.25 SMC3 SMC1A SHOC2 RAD21 PES1 PDS5A
2 nucleoplasm GO:0005654 10.13 SMC3 SMC1A SHOC2 RAD21 PES1 PDS5A
3 chromosome, centromeric region GO:0000775 9.67 SMC3 SMC1A RAD21 PDS5A
4 nuclear matrix GO:0016363 9.63 SMC3 SMC1A RAD21
5 chromosome GO:0005694 9.56 SMC3 SMC1A RAD21 PES1 PDS5A NIPBL
6 mitotic spindle pole GO:0097431 9.48 SMC3 SMC1A
7 MLL3/4 complex GO:0044666 9.43 PAGR1 KMT2D
8 cohesin complex GO:0008278 9.43 SMC3 SMC1A RAD21
9 meiotic cohesin complex GO:0030893 9.33 SMC3 SMC1A RAD21
10 chromatin GO:0000785 9.1 SMC3 RAD21 PDS5A NIPBL ESCO2 ESCO1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.85 SMC3 SMC1A RAD21 PDS5A
2 cellular response to DNA damage stimulus GO:0006974 9.85 SMC3 SMC1A RAD21 PAGR1 NIPBL
3 DNA repair GO:0006281 9.77 SMC3 SMC1A RAD21 PDS5A PAGR1
4 cell cycle GO:0007049 9.7 SMC3 SMC1A RAD21 PDS5A NIPBL ESCO2
5 meiotic cell cycle GO:0051321 9.69 SMC3 SMC1A RAD21
6 double-strand break repair GO:0006302 9.61 RAD21 NIPBL ESCO2
7 stem cell population maintenance GO:0019827 9.58 SMC3 SMC1A NIPBL
8 beta-catenin-TCF complex assembly GO:1904837 9.56 KMT2D CREBBP
9 regulation of mitotic spindle assembly GO:1901673 9.54 SMC3 SMC1A
10 histone H3-K4 methylation GO:0051568 9.52 PAGR1 KMT2D
11 protein localization to chromatin GO:0071168 9.49 RAD21 ESCO2
12 positive regulation of intracellular estrogen receptor signaling pathway GO:0033148 9.48 PAGR1 KMT2D
13 regulation of DNA replication GO:0006275 9.43 SMC3 ESCO2 ESCO1
14 post-translational protein acetylation GO:0034421 9.32 ESCO2 ESCO1
15 mitotic sister chromatid cohesion GO:0007064 9.13 SMC1A PDS5A NIPBL
16 sister chromatid cohesion GO:0007062 9.1 SMC3 SMC1A RAD21 HDAC8 ESCO2 ESCO1

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.65 SMC3 SMC1A RAD21 NIPBL CREBBP
2 peptide-lysine-N-acetyltransferase activity GO:0061733 9.16 ESCO1 CREBBP
3 acetyltransferase activity GO:0016407 9.13 ESCO2 ESCO1 CREBBP
4 mediator complex binding GO:0036033 8.8 SMC3 SMC1A NIPBL

Sources for Familial Isolated Trichomegaly

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
Content
Loading form....