TTD5
MCID: TRC103
MIFTS: 22

Trichothiodystrophy 5, Nonphotosensitive (TTD5)

Categories: Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Trichothiodystrophy 5, Nonphotosensitive

MalaCards integrated aliases for Trichothiodystrophy 5, Nonphotosensitive:

Name: Trichothiodystrophy 5, Nonphotosensitive 56 29 6
Ttd5 56 73
Trichothiodystrophy, Type 5, Nonphotosensitive 39
Trichothiodystrophy 5, Non-Photosensitive 73

Characteristics:

OMIM:

56
Inheritance:
x-linked dominant

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


HPO:

31
trichothiodystrophy 5, nonphotosensitive:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Trichothiodystrophy 5, Nonphotosensitive

UniProtKB/Swiss-Prot : 73 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. An important gene associated with Trichothiodystrophy 5, Nonphotosensitive is RNF113A (Ring Finger Protein 113A). Affiliated tissues include testes, brain and thyroid, and related phenotypes are mandibular prognathia and short stature

More information from OMIM: 300953 PS601675

Related Diseases for Trichothiodystrophy 5, Nonphotosensitive

Symptoms & Phenotypes for Trichothiodystrophy 5, Nonphotosensitive

Human phenotypes related to Trichothiodystrophy 5, Nonphotosensitive:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 31 HP:0000303
2 short stature 31 HP:0004322
3 intrauterine growth retardation 31 HP:0001511
4 cutaneous photosensitivity 31 HP:0000992
5 decreased antibody level in blood 31 HP:0004313
6 optic nerve hypoplasia 31 HP:0000609
7 cerebellar hypoplasia 31 HP:0001321
8 wide mouth 31 HP:0000154
9 micropenis 31 HP:0000054
10 high forehead 31 HP:0000348
11 dandy-walker malformation 31 HP:0001305
12 recurrent infections 31 HP:0002719
13 chronic diarrhea 31 HP:0002028
14 sparse hair 31 HP:0008070
15 cutis marmorata 31 HP:0000965
16 slow-growing hair 31 HP:0002217
17 intellectual disability, profound 31 HP:0002187
18 retinal dystrophy 31 HP:0000556
19 brittle hair 31 HP:0002299
20 broad-based gait 31 HP:0002136
21 global brain atrophy 31 HP:0002283
22 progressive microcephaly 31 HP:0000253
23 progeroid facial appearance 31 HP:0005328
24 tiger tail banding 31 HP:0045055
25 widely spaced primary teeth 31 HP:0006313

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature
severe linear growth failure

Genitourinary External Genitalia Male:
micropenis

Immunology:
recurrent infections
hypogammaglobulinemia

Skin Nails Hair Skin:
cutis marmorata

Head And Neck Mouth:
large mouth

Skeletal Skull:
microcephaly, progressive

Head And Neck Ears:
extra auricular crus

Abdomen Gastrointestinal:
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

Neurologic Central Nervous System:
cerebellar hypoplasia
dandy-walker malformation
mental retardation, profound
generalized cerebral atrophy
ataxic broad-based gait
more
Head And Neck Face:
high forehead
prominent chin
aged facial appearance

Skin Nails Hair Hair:
sparse hair
slow-growing hair
brittle hair
tiger-tail pattern seen on polarizing light microscopy
sulfur deficiency seen on amino acid analysis

Head And Neck Teeth:
widely spaced primary teeth

Head And Neck Head:
microcephaly, progressive

Growth Other:
intrauterine growth restriction (iugr)

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

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

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:

# Genetic test Affiliating Genes
1 Trichothiodystrophy 5, Nonphotosensitive 29

Anatomical Context for Trichothiodystrophy 5, Nonphotosensitive

MalaCards organs/tissues related to Trichothiodystrophy 5, Nonphotosensitive:

40
Testes, Brain, Thyroid, Skin

Publications for Trichothiodystrophy 5, Nonphotosensitive

Articles related to Trichothiodystrophy 5, Nonphotosensitive:

# Title Authors PMID Year
1
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. 56 6
25612912 2015
2
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 56
19377476 2009
3
Multi-species test and calibration of an improved transient thermal dissipation system of sap flow measurement with a single probe. 61
30865277 2019

Variations for Trichothiodystrophy 5, Nonphotosensitive

ClinVar genetic disease variations for Trichothiodystrophy 5, Nonphotosensitive:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNF113A NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter)SNV Pathogenic 192382 rs794726863 X:119004676-119004676 X:119870713-119870713

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
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
49 NCIt
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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