MCID: TRC117
MIFTS: 20

Trichothiodystrophy 6, Nonphotosensitive

Categories: Genetic diseases, Skin diseases, Neuronal diseases

Aliases & Classifications for Trichothiodystrophy 6, Nonphotosensitive

MalaCards integrated aliases for Trichothiodystrophy 6, Nonphotosensitive:

Name: Trichothiodystrophy 6, Nonphotosensitive 57 29 6
Ttd6 57 75
Trichothiodystrophy 6, Non-Photosensitive 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
trichothiodystrophy 6, nonphotosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 6, Nonphotosensitive

UniProtKB/Swiss-Prot : 75 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 skin and bone, and related phenotypes are microcephaly and microcornea

Description from OMIM: 616943

Related Diseases for Trichothiodystrophy 6, Nonphotosensitive

Symptoms & Phenotypes for Trichothiodystrophy 6, Nonphotosensitive

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Trichothiodystrophy 6, Nonphotosensitive:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 microcornea 32 occasional (7.5%) HP:0000482
3 esotropia 32 HP:0000565
4 nystagmus 32 occasional (7.5%) HP:0000639
5 dry skin 32 HP:0000958
6 motor delay 32 HP:0001270
7 small for gestational age 32 HP:0001518
8 pes cavus 32 occasional (7.5%) HP:0001761
9 broad-based gait 32 occasional (7.5%) HP:0002136
10 slow-growing hair 32 HP:0002217
11 brittle hair 32 HP:0002299
12 intellectual disability, moderate 32 HP:0002342
13 long-tract signs 32 HP:0002423
14 coxa valga 32 occasional (7.5%) HP:0002673
15 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
16 short stature 32 HP:0004322
17 coronal craniosynostosis 32 HP:0004440
18 bilateral sensorineural hearing impairment 32 HP:0008619
19 mild intrauterine growth retardation 32 HP:0008883
20 tiger tail banding 32 HP:0045055

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:

41
Skin, Bone

Publications for Trichothiodystrophy 6, Nonphotosensitive

Variations for Trichothiodystrophy 6, Nonphotosensitive

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

75
# Symbol AA change Variation ID SNP ID
1 GTF2E2 p.Ala150Pro VAR_076893 rs875989846
2 GTF2E2 p.Asp187Tyr VAR_076894 rs875989847

ClinVar genetic disease variations for Trichothiodystrophy 6, Nonphotosensitive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GTF2E2 NM_002095.5(GTF2E2): c.448G> C (p.Ala150Pro) single nucleotide variant Pathogenic rs875989846 GRCh38 Chromosome 8, 30612400: 30612400
2 GTF2E2 NM_002095.5(GTF2E2): c.448G> C (p.Ala150Pro) single nucleotide variant Pathogenic rs875989846 GRCh37 Chromosome 8, 30469917: 30469917
3 GTF2E2 NM_002095.5(GTF2E2): c.559G> T (p.Asp187Tyr) single nucleotide variant Pathogenic rs875989847 GRCh37 Chromosome 8, 30464658: 30464658
4 GTF2E2 NM_002095.5(GTF2E2): c.559G> T (p.Asp187Tyr) single nucleotide variant Pathogenic rs875989847 GRCh38 Chromosome 8, 30607141: 30607141

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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45 MESH via Orphanet
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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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