TTD7
MCID: TRC125
MIFTS: 17

Trichothiodystrophy 7, Nonphotosensitive (TTD7)

Categories: Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Trichothiodystrophy 7, Nonphotosensitive

MalaCards integrated aliases for Trichothiodystrophy 7, Nonphotosensitive:

Name: Trichothiodystrophy 7, Nonphotosensitive 56 6
Ttd7 56 73
Trichothiodystrophy 7, Non-Photosensitive 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
limited clinical information available
based on report of 2 unrelated patients (last curated august 2019)


HPO:

31
trichothiodystrophy 7, nonphotosensitive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618546
OMIM Phenotypic Series 56 PS601675
MeSH 43 D054463
MedGen 41 CN262195

Summaries for Trichothiodystrophy 7, Nonphotosensitive

UniProtKB/Swiss-Prot : 73 Trichothiodystrophy 7, 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. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive.

MalaCards based summary : Trichothiodystrophy 7, Nonphotosensitive, is also known as ttd7. An important gene associated with Trichothiodystrophy 7, Nonphotosensitive is TARS1 (Threonyl-TRNA Synthetase 1). Affiliated tissues include skin, and related phenotypes are ichthyosis and follicular hyperkeratosis

OMIM : 56 Nonphotosensitive trichothiodystrophy-7 (TTD7) is an autosomal recessive disorder characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis (Theil et al., 2019). For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675. (618546)

Related Diseases for Trichothiodystrophy 7, Nonphotosensitive

Symptoms & Phenotypes for Trichothiodystrophy 7, Nonphotosensitive

Human phenotypes related to Trichothiodystrophy 7, Nonphotosensitive:

31
# Description HPO Frequency HPO Source Accession
1 ichthyosis 31 HP:0008064
2 follicular hyperkeratosis 31 HP:0007502
3 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479
4 brittle hair 31 HP:0002299
5 tiger tail banding 31 HP:0045055

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
ichthyosis
collodion membrane at birth
follicular keratosis

Skin Nails Hair Hair:
trichoschisis
alternating light and dark banding pattern ('tiger tail') seen under polarization microscopy
reduced cysteine content
reduced threonine content

Clinical features from OMIM:

618546

Drugs & Therapeutics for Trichothiodystrophy 7, Nonphotosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 7, Nonphotosensitive

Genetic Tests for Trichothiodystrophy 7, Nonphotosensitive

Anatomical Context for Trichothiodystrophy 7, Nonphotosensitive

MalaCards organs/tissues related to Trichothiodystrophy 7, Nonphotosensitive:

40
Skin

Publications for Trichothiodystrophy 7, Nonphotosensitive

Articles related to Trichothiodystrophy 7, Nonphotosensitive:

# Title Authors PMID Year
1
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. 56 6
31374204 2019

Variations for Trichothiodystrophy 7, Nonphotosensitive

ClinVar genetic disease variations for Trichothiodystrophy 7, Nonphotosensitive:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TARS1 NM_152295.4(TARS1):c.1912C>T (p.Arg638Ter)SNV Pathogenic 689397 5:33466979-33466979 5:33466874-33466874
2 TARS1 NM_152295.4(TARS1):c.826A>G (p.Lys276Glu)SNV Pathogenic 689398 5:33456321-33456321 5:33456216-33456216
3 TARS1 NM_152295.4(TARS1):c.680T>C (p.Leu227Pro)SNV Pathogenic 689399 5:33455796-33455796 5:33455691-33455691

Expression for Trichothiodystrophy 7, Nonphotosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 7, Nonphotosensitive.

Pathways for Trichothiodystrophy 7, Nonphotosensitive

GO Terms for Trichothiodystrophy 7, Nonphotosensitive

Sources for Trichothiodystrophy 7, Nonphotosensitive

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
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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
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