MCID: TRC101
MIFTS: 29

Trichothiodystrophy 4, Nonphotosensitive

Categories: Genetic diseases, Skin diseases, Neuronal diseases

Aliases & Classifications for Trichothiodystrophy 4, Nonphotosensitive

MalaCards integrated aliases for Trichothiodystrophy 4, Nonphotosensitive:

Name: Trichothiodystrophy 4, Nonphotosensitive 54
Trichothiodystrophy, Nonphotosensitive 1 24 71 29 13
Amish Brittle Hair Brain Syndrome 24 71 69
Trichorrhexis Nodosa Syndrome 71 69
Bids Syndrome 24 71
Abhs 24 71
Trichothiodystrophy-Neurocutaneous Syndrome 71
Trichothiodystrophy 4, Non-Photosensitive 71
Trichothiodystrophy Non-Photosensitive 1 71
Hair-Brain Syndrome 71
Pollitt Syndrome 71
Ttdn1 71
Ttd4 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
trichothiodystrophy 4, nonphotosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 4, Nonphotosensitive

OMIM : 54
Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008). Sabinas brittle hair syndrome (211390) is another form of nonphotosensitive TTD. For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675. (234050)

MalaCards based summary : Trichothiodystrophy 4, Nonphotosensitive, also known as trichothiodystrophy, nonphotosensitive 1, is related to nonphotosensitive trichothiodystrophy and trichothiodystrophy 1, photosensitive, and has symptoms including optic atrophy, nystagmus and microcephaly. An important gene associated with Trichothiodystrophy 4, Nonphotosensitive is MPLKIP (M-Phase Specific PLK1 Interacting Protein). Affiliated tissues include brain, skin and tongue.

UniProtKB/Swiss-Prot : 71 Trichothiodystrophy 4, non-photosensitive: A form of trichothiodystrophy, an autosomal recessive 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. TTD4 patients do not manifest cutaneous photosensitivity.

Related Diseases for Trichothiodystrophy 4, Nonphotosensitive

Diseases in the Nonphotosensitive Trichothiodystrophy family:

Trichothiodystrophy 4, Nonphotosensitive Trichothiodystrophy 6, Nonphotosensitive
Trichothiodystrophy 5, Nonphotosensitive

Diseases related to Trichothiodystrophy 4, Nonphotosensitive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
id Related Disease Score Top Affiliating Genes
1 nonphotosensitive trichothiodystrophy 11.2
2 trichothiodystrophy 1, photosensitive 10.8
3 allergic encephalomyelitis 10.0
4 neuritis 9.7
5 hemorrhagic disease 9.7
6 ovarian cyst 9.7
7 in situ carcinoma 9.7
8 spasticity 9.7
9 endotheliitis 9.7
10 lung cancer 9.7
11 h. pylori infection 9.7
12 hemangioma 9.7
13 gastric ulcer 9.7
14 esophagitis 9.7
15 optic neuritis 9.7

Graphical network of the top 20 diseases related to Trichothiodystrophy 4, Nonphotosensitive:



Diseases related to Trichothiodystrophy 4, Nonphotosensitive

Symptoms & Phenotypes for Trichothiodystrophy 4, Nonphotosensitive

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
hypoplastic nails
dysplastic nails
spoon-shaped nails
dyschromic nails

Head And Neck- Head:
microcephaly

Skin Nails & Hair- Hair:
sparse hair
trichorrhexis nodosa
short, woolly hair
brittle hair of scalp, beard, eyebrows, eyelashes, and axillary and pubic areas
stubby eyebrow hair
more
Head And Neck- Eyes:
microcornea (in some patients)
nystagmus (in some patients)
nystagmus (rare)
microphthalmia (rare)
brittle and sparse eyebrows
more
Cardiovascular- Heart:
ventricular septal defect (rare)

Head And Neck- Nose:
short nose (rare)
large and depressed nasal root (rare)
thick alae (rare)
anteverted nares (rare)

Genitourinary- Internal Genitalia Female:
decreased fertility

Skeletal:
delayed ossification (rare)

Growth- Other:
growth retardation

Head And Neck- Ears:
large ears

Neurologic- Central Nervous System:
psychomotor retardation
hypotonia, severe (rare)
partial agenesis of the corpus callosum (rare)
cortical atrophy (rare)

Head And Neck- Teeth:
thin enamel
hypoplastic teeth (rare)

Head And Neck- Face:
short smooth philtrum (rare)
retrognathia, mild (rare)

Head And Neck- Mouth:
white plaques on tongue

Genitourinary- Internal Genitalia Male:
decreased fertility

Skin Nails & Hair- Skin:
ichthyosiform areas of skin (rare)


Clinical features from OMIM:

234050

Human phenotypes related to Trichothiodystrophy 4, Nonphotosensitive:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 optic atrophy 32 occasional (7.5%) HP:0000648
2 nystagmus 32 occasional (7.5%) HP:0000639
3 microcephaly 32 HP:0000252
4 brittle hair 32 HP:0002299
5 sparse hair 32 HP:0008070
6 short nose 32 occasional (7.5%) HP:0003196
7 anteverted nares 32 occasional (7.5%) HP:0000463
8 global developmental delay 32 HP:0001263
9 intellectual disability 32 HP:0001249
10 ventricular septal defect 32 occasional (7.5%) HP:0001629
11 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
12 partial agenesis of the corpus callosum 32 occasional (7.5%) HP:0001338
13 epicanthus 32 occasional (7.5%) HP:0000286
14 trichorrhexis nodosa 32 HP:0009886
15 decreased fertility 32 HP:0000144
16 growth delay 32 HP:0001510
17 macrotia 32 HP:0000400
18 small nail 32 HP:0001792
19 concave nail 32 HP:0001598
20 severe muscular hypotonia 32 occasional (7.5%) HP:0006829
21 hypoplasia of teeth 32 occasional (7.5%) HP:0000685

UMLS symptoms related to Trichothiodystrophy 4, Nonphotosensitive:


koilonychia

Drugs & Therapeutics for Trichothiodystrophy 4, Nonphotosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 4, Nonphotosensitive

Genetic Tests for Trichothiodystrophy 4, Nonphotosensitive

Genetic tests related to Trichothiodystrophy 4, Nonphotosensitive:

id Genetic test Affiliating Genes
1 Trichothiodystrophy, Nonphotosensitive 1 29 24 MPLKIP

Anatomical Context for Trichothiodystrophy 4, Nonphotosensitive

MalaCards organs/tissues related to Trichothiodystrophy 4, Nonphotosensitive:

39
Brain, Skin, Tongue, Eye

Publications for Trichothiodystrophy 4, Nonphotosensitive

Variations for Trichothiodystrophy 4, Nonphotosensitive

UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy 4, Nonphotosensitive:

71
id Symbol AA change Variation ID SNP ID
1 MPLKIP p.Met144Val VAR_022940 rs137853117

ClinVar genetic disease variations for Trichothiodystrophy 4, Nonphotosensitive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MPLKIP NM_138701.3(MPLKIP): c.430A> G (p.Met144Val) single nucleotide variant Pathogenic rs137853117 GRCh37 Chromosome 7, 40172768: 40172768
2 MPLKIP NM_138701.3(MPLKIP): c.137_138delGG (p.Gly46Glufs) deletion Pathogenic rs587776531 GRCh38 Chromosome 7, 40134430: 40134431
3 MPLKIP MPLKIP, EX1-2DEL deletion Pathogenic
4 MPLKIP NM_138701.3(MPLKIP): c.277delT (p.Ser93Profs) deletion Pathogenic rs587776532 GRCh37 Chromosome 7, 40173890: 40173890
5 MPLKIP NM_138701.3(MPLKIP): c.148_152delCACAC (p.His50Alafs) deletion Pathogenic rs878854339 GRCh37 Chromosome 7, 40174015: 40174019
6 MPLKIP NM_138701.3(MPLKIP): c.339+1G> A single nucleotide variant Pathogenic rs869312900 GRCh37 Chromosome 7, 40173827: 40173827

Expression for Trichothiodystrophy 4, Nonphotosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 4, Nonphotosensitive.

Pathways for Trichothiodystrophy 4, Nonphotosensitive

GO Terms for Trichothiodystrophy 4, Nonphotosensitive

Sources for Trichothiodystrophy 4, Nonphotosensitive

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
31 HMDB
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43 MESH via Orphanet
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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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