MCID: TRC103
MIFTS: 22

Trichothiodystrophy 5, Nonphotosensitive

Categories: Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Trichothiodystrophy 5, Nonphotosensitive

MalaCards integrated aliases for Trichothiodystrophy 5, Nonphotosensitive:

Name: Trichothiodystrophy 5, Nonphotosensitive 53 28
Ttd5 53 71
Trichothiodystrophy 5, Non-Photosensitive 71

Characteristics:

OMIM:

53
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 : 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 intellectual disability, mandibular prognathia and microcephaly. An important gene associated with Trichothiodystrophy 5, Nonphotosensitive is RNF113A (Ring Finger Protein 113A). Affiliated tissues include brain, testes and thyroid.

Description from OMIM: 300953

Related Diseases for Trichothiodystrophy 5, Nonphotosensitive

Symptoms & Phenotypes for Trichothiodystrophy 5, Nonphotosensitive

Symptoms via clinical synopsis from OMIM:

53
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 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

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

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:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 mandibular prognathia 31 HP:0000303
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 intrauterine growth retardation 31 HP:0001511
6 decreased antibody level in blood 31 HP:0004313
7 optic nerve hypoplasia 31 HP:0000609
8 cerebellar hypoplasia 31 HP:0001321
9 wide mouth 31 HP:0000154
10 recurrent infections 31 HP:0002719
11 chronic diarrhea 31 HP:0002028
12 intellectual disability, profound 31 HP:0002187
13 high forehead 31 HP:0000348
14 cutaneous photosensitivity 31 HP:0000992
15 sparse hair 31 HP:0008070
16 dandy-walker malformation 31 HP:0001305
17 cutis marmorata 31 HP:0000965
18 slow-growing hair 31 HP:0002217
19 micropenis 31 HP:0000054
20 retinal dystrophy 31 HP:0000556
21 brittle hair 31 HP:0002299
22 progeroid facial appearance 31 HP:0005328
23 progressive microcephaly 31 HP:0000253
24 global brain atrophy 31 HP:0002283
25 widely spaced primary teeth 31 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 28 RNF113A

Anatomical Context for Trichothiodystrophy 5, Nonphotosensitive

MalaCards organs/tissues related to Trichothiodystrophy 5, Nonphotosensitive:

38
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

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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