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 57
Trichothiodystrophy, Nonphotosensitive 1 57 75 29 13 6
Amish Brittle Hair Brain Syndrome 57 75 73
Trichothiodystrophy-Neurocutaneous Syndrome 57 75
Trichorrhexis Nodosa Syndrome 75 73
Hair-Brain Syndrome 57 75
Pollitt Syndrome 57 75
Bids Syndrome 57 75
Ttdn1 57 75
Ttd4 57 75
Abhs 57 75
Trichothiodystrophy, Nonphotosensitive 1; Ttdn1 57
Trichothiodystrophy, Type 4, Nonphotosensitive 40
Trichothiodystrophy 4, Non-Photosensitive 75
Trichothiodystrophy Non-Photosensitive 1 75
Amish Brittle Hair Brain Syndrome; Abhs 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
trichothiodystrophy 4, nonphotosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 4, Nonphotosensitive

OMIM : 57 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 blood group--abh antigen, type 2 and trichothiodystrophy 1, photosensitive, and has symptoms including koilonychia An important gene associated with Trichothiodystrophy 4, Nonphotosensitive is MPLKIP (M-Phase Specific PLK1 Interacting Protein). Affiliated tissues include brain, skin and eye, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 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 5, Nonphotosensitive
Trichothiodystrophy 6, Nonphotosensitive

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 blood group--abh antigen, type 2 11.9
2 trichothiodystrophy 1, photosensitive 11.6
3 trichohepatoenteric syndrome 1 11.2
4 bombay phenotype 11.0
5 nonphotosensitive trichothiodystrophy 10.1
6 allergic encephalomyelitis 10.1
7 lung cancer 9.8
8 cholangiocarcinoma 9.8
9 hemangioma 9.8
10 lymphoma 9.8
11 gastric ulcer 9.8
12 esophagitis 9.8
13 optic neuritis 9.8
14 neuritis 9.8
15 hemorrhagic disease 9.8
16 capillary hemangioma 9.8
17 ovarian cyst 9.8
18 in situ carcinoma 9.8
19 spasticity 9.8
20 endotheliitis 9.8

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:

57
Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Female:
decreased fertility

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

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

Head And Neck Eyes:
nystagmus (in some patients)
microcornea (in some patients)
microphthalmia (rare)
nystagmus (rare)
brittle and sparse eyebrows
more
Neurologic Central Nervous System:
psychomotor retardation
hypotonia, severe (rare)
partial agenesis of the corpus callosum (rare)
cortical atrophy (rare)

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

Skeletal:
delayed ossification (rare)

GenitourinaryInternal GenitaliaMale:
decreased fertility

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
Growth Other:
growth retardation

Head And Neck Ears:
large ears

Cardiovascular Heart:
ventricular septal defect (rare)

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

Head And Neck Mouth:
white plaques on tongue

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


Clinical features from OMIM:

234050

Human phenotypes related to Trichothiodystrophy 4, Nonphotosensitive:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 intellectual disability 32 HP:0001249
3 macrotia 32 HP:0000400
4 global developmental delay 32 HP:0001263
5 short nose 32 occasional (7.5%) HP:0003196
6 microcephaly 32 HP:0000252
7 anteverted nares 32 occasional (7.5%) HP:0000463
8 optic atrophy 32 occasional (7.5%) HP:0000648
9 retrognathia 32 occasional (7.5%) HP:0000278
10 epicanthus 32 occasional (7.5%) HP:0000286
11 growth delay 32 HP:0001510
12 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
13 keratoconjunctivitis sicca 32 occasional (7.5%) HP:0001097
14 microphthalmia 32 occasional (7.5%) HP:0000568
15 small nail 32 HP:0001792
16 decreased fertility 32 HP:0000144
17 ventricular septal defect 32 occasional (7.5%) HP:0001629
18 microcornea 32 occasional (7.5%) HP:0000482
19 partial agenesis of the corpus callosum 32 occasional (7.5%) HP:0001338
20 sparse hair 32 HP:0008070
21 concave nail 32 HP:0001598
22 trichorrhexis nodosa 32 HP:0009886
23 brittle hair 32 HP:0002299
24 abnormality of hair texture 32 HP:0010719
25 hypoplasia of teeth 32 occasional (7.5%) HP:0000685
26 severe muscular hypotonia 32 occasional (7.5%) HP:0006829

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:

# Genetic test Affiliating Genes
1 Trichothiodystrophy, Nonphotosensitive 1 29 MPLKIP

Anatomical Context for Trichothiodystrophy 4, Nonphotosensitive

MalaCards organs/tissues related to Trichothiodystrophy 4, Nonphotosensitive:

41
Brain, Skin, Eye, Tongue

Publications for Trichothiodystrophy 4, Nonphotosensitive

Variations for Trichothiodystrophy 4, Nonphotosensitive

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

75
# Symbol AA change Variation ID SNP ID
1 MPLKIP p.Met144Val VAR_022940 rs137853117

ClinVar genetic disease variations for Trichothiodystrophy 4, Nonphotosensitive:

6
(show all 11)
# 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.430A> G (p.Met144Val) single nucleotide variant Pathogenic rs137853117 GRCh38 Chromosome 7, 40133169: 40133169
3 MPLKIP NM_138701.3(MPLKIP): c.137_138delGG (p.Gly46Glufs) deletion Pathogenic rs587776531 GRCh38 Chromosome 7, 40134430: 40134431
4 MPLKIP NM_138701.3(MPLKIP): c.137_138delGG (p.Gly46Glufs) deletion Pathogenic rs587776531 GRCh37 Chromosome 7, 40174029: 40174030
5 MPLKIP MPLKIP, EX1-2DEL deletion Pathogenic
6 MPLKIP NM_138701.3(MPLKIP): c.277delT (p.Ser93Profs) deletion Pathogenic rs587776532 GRCh37 Chromosome 7, 40173890: 40173890
7 MPLKIP NM_138701.3(MPLKIP): c.277delT (p.Ser93Profs) deletion Pathogenic rs587776532 GRCh38 Chromosome 7, 40134291: 40134291
8 MPLKIP NM_138701.3(MPLKIP): c.148_152delCACAC (p.His50Alafs) deletion Pathogenic rs878854339 GRCh37 Chromosome 7, 40174015: 40174019
9 MPLKIP NM_138701.3(MPLKIP): c.148_152delCACAC (p.His50Alafs) deletion Pathogenic rs878854339 GRCh38 Chromosome 7, 40134416: 40134420
10 MPLKIP NM_138701.3(MPLKIP): c.339+1G> A single nucleotide variant Pathogenic rs869312900 GRCh37 Chromosome 7, 40173827: 40173827
11 MPLKIP NM_138701.3(MPLKIP): c.339+1G> A single nucleotide variant Pathogenic rs869312900 GRCh38 Chromosome 7, 40134228: 40134228

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

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
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37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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55 Novoseek
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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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