Trichothiodystrophy Syndromes

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5 relevant articles (0 outcomes, 0 trials/studies) found for this Disease

Description: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a nucleotide excision repair defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2/XPD and ERCC3/XPB. Nonphotosensitive trichothiodystrophy is caused by mutation in the TTDN1 gene.

Also Known As:

BIDS Syndrome; PIBIDS Syndrome; Photosensitive Trichothiodystrophy; Trichothiodystrophy, Nonphotosensitive 1; 1 Trichothiodystrophies, Nonphotosensitive; 1 Trichothiodystrophy, Nonphotosensitive; BIDS Syndromes; Nonphotosensitive 1 Trichothiodystrophies; Nonphotosensitive 1 Trichothiodystrophy; PIBIDS Syndromes; Photosensitive Trichothiodystrophies; Syndrome, BIDS; Syndrome, PIBIDS; Syndrome, Trichothiodystrophy; Syndromes, BIDS; Syndromes, PIBIDS; Syndromes, Trichothiodystrophy; Trichothiodystrophies, Nonphotosensitive 1; Trichothiodystrophies, Photosensitive; Trichothiodystrophy Syndrome; Trichothiodystrophy, Photosensitive

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 422

Congenital Abnormalities: 9330

Multiple Abnormalities: 120

Trichothiodystrophy Syndromes: 5

Skin Abnormalities: 74

Trichothiodystrophy Syndromes: 5

Inborn Genetic Diseases: 549

Genetic Skin Diseases: 10

Trichothiodystrophy Syndromes: 5

Skin and Connective Tissue Diseases

Skin Diseases: 5944

Skin Abnormalities: 74

Trichothiodystrophy Syndromes: 5

Genetic Skin Diseases: 10

Trichothiodystrophy Syndromes: 5

Related Diseases

1.	Nijmegen Breakage Syndrome
2.	Spinocerebellar Ataxias (Spinocerebellar Ataxia)
3.	Xeroderma Pigmentosum (Kaposi's Disease)
4.	Syndrome
5.	Skin Neoplasms (Skin Cancer)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Trichothiodystrophy Syndromes:

1.	DNA (Deoxyribonucleic Acid)IBA 11/01/1992 - "First-trimester prenatal exclusion of PIBIDS syndrome with normal DNA excision repair on chorionic villus cells." 03/01/2007 - "Five of the conditions (xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Down syndrome, and triple-A syndrome) display a defect in the nucleotide excision repair pathway, four (Huntington's disease, various spinocerebellar ataxias, Friedreich's ataxia and myotonic dystrophy types 1 and 2) exhibit an unusual expansion of repeat sequences in DNA, and four (ataxia-telangiectasia, ataxia-telangiectasia-like disorder, Nijmegen breakage syndrome and Alzheimer's disease) exhibit defects in genes involved in repairing double-strand breaks" Order ALL the reference details at left...
2.	SulfurIBA 07/28/1995 - "Besides XP, mutations in XPD can cause another seemingly unrelated syndrome, trichothiodystrophy (TTD), characterized by sulfur-deficient brittle hair, ichthyosis, and physical and mental retardation" Order ALL the reference details at left...
3.	RNA Polymerase II (RNA Polymerase B)IBA 11/01/2007 - "In Saccharomyces cerevisiae, GG-NER is dependent on Rad7, whereas TC-NER is mediated by Rad26, the homolog of the human Cockayne syndrome group B protein, and by Rpb9, a non-essential subunit of RNA polymerase II. Tfb5, the tenth subunit of the transcription/repair factor TFIIH, is implicated in one group of the human syndrome trichothiodystrophy" Order ALL the reference details at left...
4.	CatalaseIBA 03/15/1998 - "However, in contrast to the skin cancer prone XP patients, another NER deficient syndrome, trichothiodystrophy (TTD), which does not exhibit any cancer predisposition, was found to present normal catalase activity" Order ALL the reference details at left...

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