MCID: TRC103
MIFTS: 21

Trichothiodystrophy 5, Nonphotosensitive

Categories: Genetic diseases, Skin diseases, Neuronal diseases

Aliases & Classifications for Trichothiodystrophy 5, Nonphotosensitive

MalaCards integrated aliases for Trichothiodystrophy 5, Nonphotosensitive:

Name: Trichothiodystrophy 5, Nonphotosensitive 54 24 29
Ttd5 24 71
Trichothiodystrophy 5, Non-Photosensitive 71

Characteristics:

OMIM:

54
Inheritance:
x-linked dominant

Miscellaneous:
female carriers exhibit short stature
based on a report of 2 affected male cousins (last curated june 2015)


HPO:

32
trichothiodystrophy 5, nonphotosensitive:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Trichothiodystrophy 5, Nonphotosensitive

UniProtKB/Swiss-Prot : 71 Trichothiodystrophy 5, non-photosensitive: A X-linked 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. TTD5 features include microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis.

MalaCards based summary : Trichothiodystrophy 5, Nonphotosensitive, is also known as ttd5, and has symptoms including short stature, recurrent infections and wide mouth. An important gene associated with Trichothiodystrophy 5, Nonphotosensitive is RNF113A (Ring Finger Protein 113A). Affiliated tissues include testes, brain and thyroid.

Description from OMIM: 300953

Related Diseases for Trichothiodystrophy 5, Nonphotosensitive

Symptoms & Phenotypes for Trichothiodystrophy 5, Nonphotosensitive

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature
severe linear growth failure

Immunology:
recurrent infections
hypogammaglobulinemia

Neurologic- Central Nervous System:
mental retardation, profound
cerebellar hypoplasia
dandy-walker malformation
generalized cerebral atrophy
ataxic broad-based gait
more
Skin Nails & Hair- Hair:
brittle hair
sparse hair
slow-growing hair
tiger-tail pattern seen on polarizing light microscopy
sulfur deficiency seen on amino acid analysis

Growth- Other:
intrauterine growth restriction (iugr)

Skeletal- Skull:
microcephaly, progressive

Head And Neck- Eyes:
absent outer eyebrows
retinal dystrophy (in patient a)
optic nerve hypoplasia (in patient a)
photosensitivity (in patient a)

Abdomen- Gastroin testinal:
short esophagus (in patient a)
thoracic stomach (in patient a)
chronic diarrhea (in patient a)

Genitourinary- Ureters:
ureteric obstruction (in patient a)

Neurologic- Behavioral Psychiatric Manifestations:
social and engaging personality

Head And Neck- Mouth:
large mouth

Head And Neck- Face:
high forehead
prominent chin
aged facial appearance

Genitourinary- External Genitalia Male:
micropenis

Skin Nails & Hair- Skin:
cutis marmorata

Head And Neck- Head:
microcephaly, progressive

Head And Neck- Ears:
extra auricular crus

Head And Neck- Teeth:
widely spaced primary teeth

Genitourinary- Internal Genitalia Male:
absent or rudimentary testes

Muscle Soft Tissue:
minimal muscle mass
reduced subcutaneous fatty tissue

Endocrine Features:
normal growth hormone (gh) levels
high thyroid-stimulating hormone (tsh) levels
low anti-diuretic hormone (adh) levels (in patient a)
low cortisol levels


Clinical features from OMIM:

300953

Human phenotypes related to Trichothiodystrophy 5, Nonphotosensitive:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 recurrent infections 32 HP:0002719
3 wide mouth 32 HP:0000154
4 high forehead 32 HP:0000348
5 microcephaly 32 HP:0000252
6 micropenis 32 HP:0000054
7 brittle hair 32 HP:0002299
8 sparse hair 32 HP:0008070
9 intrauterine growth retardation 32 HP:0001511
10 cerebellar hypoplasia 32 HP:0001321
11 cutis marmorata 32 HP:0000965
12 intellectual disability 32 HP:0001249
13 dandy-walker malformation 32 HP:0001305
14 optic nerve hypoplasia 32 HP:0000609
15 intellectual disability, profound 32 HP:0002187
16 slow-growing hair 32 HP:0002217
17 retinal dystrophy 32 HP:0000556
18 chronic diarrhea 32 HP:0002028
19 progressive microcephaly 32 HP:0000253
20 cutaneous photosensitivity 32 HP:0000992
21 global brain atrophy 32 HP:0002283
22 widely spaced primary teeth 32 HP:0006313
23 mandibular prognathia 32 HP:0000303
24 decreased antibody level in blood 32 HP:0004313
25 progeroid facial appearance 32 HP:0005328

Drugs & Therapeutics for Trichothiodystrophy 5, Nonphotosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 5, Nonphotosensitive

Genetic Tests for Trichothiodystrophy 5, Nonphotosensitive

Genetic tests related to Trichothiodystrophy 5, Nonphotosensitive:

id Genetic test Affiliating Genes
1 Trichothiodystrophy 5, Nonphotosensitive 29 24 RNF113A

Anatomical Context for Trichothiodystrophy 5, Nonphotosensitive

MalaCards organs/tissues related to Trichothiodystrophy 5, Nonphotosensitive:

39
Testes, Brain, Thyroid

Publications for Trichothiodystrophy 5, Nonphotosensitive

Variations for Trichothiodystrophy 5, Nonphotosensitive

ClinVar genetic disease variations for Trichothiodystrophy 5, Nonphotosensitive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RNF113A NM_006978.2(RNF113A): c.901C> T (p.Gln301Ter) single nucleotide variant Pathogenic rs794726863 GRCh37 Chromosome X, 119004676: 119004676

Expression for Trichothiodystrophy 5, Nonphotosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 5, Nonphotosensitive.

Pathways for Trichothiodystrophy 5, Nonphotosensitive

GO Terms for Trichothiodystrophy 5, Nonphotosensitive

Sources for Trichothiodystrophy 5, Nonphotosensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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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40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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