TRICHOTHIODYSTROPHY, PHOTOSENSITIVE

General Information (adopted from Orphanet):

Synonyms, Signs: IBIDS SYNDROME, INCLUDED
TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED
ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED
TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS, INCLUDED
TAY SYNDROME, INCLUDED
Number of Symptoms 28
OrphanetNr:
OMIM Id: 601675
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000135) Hypogonadism 89 / 7739
2
(HPO:0000271) Abnormality of the face 108 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000518) Cataract 454 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0000765) Abnormality of the thorax 64 / 7739
7
(HPO:0001371) Flexion contracture 220 / 7739
8
(HPO:0005214) Intestinal obstruction 35 / 7739
9
(HPO:0001518) Small for gestational age 107 / 7739
10
(HPO:0004322) Short stature 1232 / 7739
11
(HPO:0008064) Ichthyosis 108 / 7739
12
(HPO:0007479) Congenital nonbullous ichthyosiform erythroderma 13 / 7739
13
(HPO:0002299) Brittle hair 52 / 7739
14
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
15
(HPO:0007519) Lack of subcutaneous fatty tissue 2 / 7739
16
(HPO:0001808) Fragile nails 21 / 7739
17
(HPO:0001019) Erythroderma 24 / 7739
18
(HPO:0004313) Decreased antibody level in blood 47 / 7739
19
(HPO:0004315) IgG deficiency 38 / 7739
20
(HPO:0002099) Asthma 62 / 7739
21
(HPO:0002719) Recurrent infections 107 / 7739
22
(OMIM) Reduced cysteine-rich hair and nail matrix proteins 1 / 7739
23
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
(OMIM) Absent breast tissue 1 / 7739
25
(OMIM) Aged appearance 3 / 7739
26
(OMIM) Nonbullous ichthyosiform erythroderma 1 / 7739
27
(OMIM) Physical retardation 3 / 7739
28
(OMIM) Nucleotide excision-repair (NER) defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Trichothiodystrophy (TTD) is a term introduced by Price et al. (1980) for sulfur-deficient brittle hair. Patients with trichothiodystrophy have brittle hair and nails (because of reduced content of cysteine-rich matrix proteins), ichthyotic skin, and physical and mental retardation. ...
Molecular genetics OMIM Complementation tests by cell fusion demonstrated that the NER syndromes are genetically heterogeneous and comprise 10 or more complementation groups: 7 in xeroderma pigmentosum, 2 in Cockayne syndrome, and 2 in TTD (Hoeijmakers, 1994). The TTD defects are ...