MCID: TRC103
MIFTS: 22

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 57 29 6
Ttd5 57 75
Trichothiodystrophy, Type 5, Nonphotosensitive 40
Trichothiodystrophy 5, Non-Photosensitive 75

Characteristics:

OMIM:

57
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 : 75 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 brain, testes and thyroid, and related phenotypes are mandibular prognathia and short stature

Description from OMIM: 300953

Related Diseases for Trichothiodystrophy 5, Nonphotosensitive

Symptoms & Phenotypes for Trichothiodystrophy 5, Nonphotosensitive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature
severe linear growth failure

Immunology:
recurrent infections
hypogammaglobulinemia

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

Genitourinary External Genitalia Male:
micropenis

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)

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 Skin:
cutis marmorata

Head And Neck Mouth:
large mouth

Skeletal Skull:
microcephaly, progressive

Head And Neck Ears:
extra auricular crus

Head And Neck Teeth:
widely spaced primary teeth

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

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 RNF113A

Anatomical Context for Trichothiodystrophy 5, Nonphotosensitive

MalaCards organs/tissues related to Trichothiodystrophy 5, Nonphotosensitive:

41
Brain, Testes, Thyroid

Publications for Trichothiodystrophy 5, Nonphotosensitive

Variations for Trichothiodystrophy 5, Nonphotosensitive

ClinVar genetic disease variations for Trichothiodystrophy 5, Nonphotosensitive:

6
# 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
2 RNF113A NM_006978.2(RNF113A): c.901C> T (p.Gln301Ter) single nucleotide variant Pathogenic rs794726863 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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