Trichothiodystrophy 1, photosensitive

Preferred Label : Trichothiodystrophy 1, photosensitive;

Symbol : TTD1;

CISMeF acronym : TTDP; TTD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pibids syndrome; Ichthyosis, congenital, with trichothiodystrophy; Tay syndrome; Trichothiodystrophy with congenital ichthyosis; TTDP; Ichthyosiform erythroderma with hair abnormality and mental and growth retardation; Trichothiodystrophy, photosensitive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision repair, complementing defective, in Chinese hamster, 2 gene (ERCC2, 126340.0001);

Neoplasia : Basal cell carcinoma; Squamous cell carcinoma;

Prefixed ID : #601675;

Détails

Origin ID

601675;

UMLS CUI

C1866504;

Currated CISMeF NLP mapping
- Trichothiodystrophy 1, Photosensitive [NCIt concept]
- photosensitive trichothiodystrophy [DO Concept]
- photosensitive trichothiodystrophy [MeSH concept]
- photosensitive trichothiodystrophy 1 [DO Concept]
- trichothiodystrophy with sun sensitivity [MeSH Supplementary Concept]
- trichothiodystrophy with sun sensitivity [MeSH concept]
DO Cross reference
- photosensitive trichothiodystrophy 1 [DO Concept]
Genes related to phenotype
- Ercc excision repair 2, tfiih core complex helicase subunit [OMIM gene]
HPO term(s)
- Absence of subcutaneous fat [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Brittle hair [HPO term]
- Cataract [HPO term]
- Chronic diarrhea [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Cutaneous photosensitivity [HPO term]
- Death in infancy [HPO term]
- Decreased circulating IgG level [HPO term]
- Delayed speech and language development [HPO term]
- Dry skin [HPO term]
- Erythroderma [HPO term]
- Fine hair [HPO term]
- Flexion contracture [HPO term]
- Fragile nails [HPO term]
- Freckling [HPO term]
- Hyperkeratosis [HPO term]
- Hypogonadism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intestinal obstruction [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Macrotia [HPO term]
- Malabsorption [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Nail dystrophy [HPO term]
- Nonbullous congenital ichthyosis [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Pili torti [HPO term]
- Protruding ear [HPO term]
- Recurrent infections [HPO term]
- Retrognathia [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Small nail [HPO term]
- Sparse hair [HPO term]
- Squamous cell carcinoma [HPO term]
- Strabismus [HPO term]
- Telangiectasia [HPO term]
- Tiger tail banding [HPO term]
- Triangular mouth [HPO term]
- Trichorrhexis nodosa [HPO term]
- obsolete Lack of subcutaneous fatty tissue [HPO term]
ORDO concept(s)
- IBIDS syndrome [ORDO Disease]
- PIBIDS syndrome [ORDO Disease]
- Trichothiodystrophy [ORDO Disease]
See also inter- (CISMeF)
- ERCC2 wt Allele [NCIt concept]
- IBIDS syndrome [ORDO Disease]
- IBIDS syndrome [ICD-11 More detail]
- IBIDS syndrome [MeSH concept]
- PIBIDS syndrome [ICD-11 More detail]
- PIBIDS syndrome [ORDO Disease]
- Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder) [SNOMED CT concept]
- ichthyosis, congenital, with trichothiodystrophy [MeSH Supplementary Concept]
- ichthyosis, congenital, with trichothiodystrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy 1, Photosensitive [NCIt concept]
- photosensitive trichothiodystrophy [MeSH concept]
Validated automatic mappings to NTBT
- trichothiodystrophy syndromes [MeSH Descriptor]

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