TTD6
MCID: TRC117
MIFTS: 20

Trichothiodystrophy 6, Nonphotosensitive (TTD6)

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Trichothiodystrophy 6, Nonphotosensitive

MalaCards integrated aliases for Trichothiodystrophy 6, Nonphotosensitive:

Name: Trichothiodystrophy 6, Nonphotosensitive 57 29 6
Ttd6 57 12 72
Trichothiodystrophy 6, Non-Photosensitive 72
Nonphotosensitive Trichothiodystrophy 6 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 unrelated patients (last curated may 2016)


HPO:

31
trichothiodystrophy 6, nonphotosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 6, Nonphotosensitive

UniProtKB/Swiss-Prot : 72 Trichothiodystrophy 6, non-photosensitive: A form of trichothiodystrophy, a disease characterized by sulfur- deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive.

MalaCards based summary : Trichothiodystrophy 6, Nonphotosensitive, is also known as ttd6. An important gene associated with Trichothiodystrophy 6, Nonphotosensitive is GTF2E2 (General Transcription Factor IIE Subunit 2). Affiliated tissues include bone, and related phenotypes are nystagmus and delayed skeletal maturation

Disease Ontology : 12 A nonphotosensitive trichothiodystrophy that has material basis in homozygous or compound heterozygous mutation in GTF2E2 on chromosome 8p12.

More information from OMIM: 616943 PS601675

Related Diseases for Trichothiodystrophy 6, Nonphotosensitive

Symptoms & Phenotypes for Trichothiodystrophy 6, Nonphotosensitive

Human phenotypes related to Trichothiodystrophy 6, Nonphotosensitive:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
3 pes cavus 31 occasional (7.5%) HP:0001761
4 microcornea 31 occasional (7.5%) HP:0000482
5 coxa valga 31 occasional (7.5%) HP:0002673
6 broad-based gait 31 occasional (7.5%) HP:0002136
7 microcephaly 31 HP:0000252
8 short stature 31 HP:0004322
9 ichthyosis 31 HP:0008064
10 dry skin 31 HP:0000958
11 motor delay 31 HP:0001270
12 intellectual disability, moderate 31 HP:0002342
13 slow-growing hair 31 HP:0002217
14 small for gestational age 31 HP:0001518
15 brittle hair 31 HP:0002299
16 bilateral sensorineural hearing impairment 31 HP:0008619
17 coronal craniosynostosis 31 HP:0004440
18 esotropia 31 HP:0000565
19 tiger tail banding 31 HP:0045055
20 mild intrauterine growth retardation 31 HP:0008883
21 long-tract signs 31 HP:0002423

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
microcephaly
triangular head consistent with craniosynostosis (in one patient)

Skin Nails Hair Skin:
dry skin
ichthyosiform scaling
lamellar ichthyosis no sun sensitivity

Growth Weight:
low weight

Neurologic Behavioral Psychiatric Manifestations:
happy personality

Head And Neck Eyes:
microcornea (in one patient)
nystagmus (in one patient)
strabismus (in one patient)

Skeletal Skull:
coronal craniosynostosis (in one patient)

Skeletal Feet:
pes cavus, bilateral (in one patient)

Growth Height:
short stature

Neurologic Central Nervous System:
motor delay
mental retardation, moderate
speech articulation disorder
positive babinski sign (in one patient)
deep tendon reflexes slightly decreased (in one patient)
more
Skin Nails Hair Hair:
short, brittle hair
'tiger tail' banding on polarized microscopy

Head And Neck Ears:
sensorineural hearing loss, mild

Skeletal:
delayed bone age (in one patient)

Skeletal Pelvis:
coxa valga, bilateral (in one patient)

Hematology:
low rbc mean corpuscular volume
elevated hemoglobin a2

Clinical features from OMIM®:

616943 (Updated 20-May-2021)

Drugs & Therapeutics for Trichothiodystrophy 6, Nonphotosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 6, Nonphotosensitive

Genetic Tests for Trichothiodystrophy 6, Nonphotosensitive

Genetic tests related to Trichothiodystrophy 6, Nonphotosensitive:

# Genetic test Affiliating Genes
1 Trichothiodystrophy 6, Nonphotosensitive 29 GTF2E2

Anatomical Context for Trichothiodystrophy 6, Nonphotosensitive

MalaCards organs/tissues related to Trichothiodystrophy 6, Nonphotosensitive:

40
Bone

Publications for Trichothiodystrophy 6, Nonphotosensitive

Articles related to Trichothiodystrophy 6, Nonphotosensitive:

# Title Authors PMID Year
1
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. 6 57
26996949 2016

Variations for Trichothiodystrophy 6, Nonphotosensitive

ClinVar genetic disease variations for Trichothiodystrophy 6, Nonphotosensitive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GTF2E2 NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) SNV Pathogenic 225840 rs875989846 GRCh37: 8:30469917-30469917
GRCh38: 8:30612400-30612400
2 GTF2E2 NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) SNV Pathogenic 225841 rs875989847 GRCh37: 8:30464658-30464658
GRCh38: 8:30607141-30607141

UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy 6, Nonphotosensitive:

72
# Symbol AA change Variation ID SNP ID
1 GTF2E2 p.Ala150Pro VAR_076893 rs875989846
2 GTF2E2 p.Asp187Tyr VAR_076894 rs875989847

Expression for Trichothiodystrophy 6, Nonphotosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 6, Nonphotosensitive.

Pathways for Trichothiodystrophy 6, Nonphotosensitive

GO Terms for Trichothiodystrophy 6, Nonphotosensitive

Sources for Trichothiodystrophy 6, Nonphotosensitive

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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