TTD4
MCID: TRC101
MIFTS: 30

Trichothiodystrophy 4, Nonphotosensitive (TTD4)

Categories: Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Trichothiodystrophy 4, Nonphotosensitive

MalaCards integrated aliases for Trichothiodystrophy 4, Nonphotosensitive:

Name: Trichothiodystrophy 4, Nonphotosensitive 58
Trichothiodystrophy, Nonphotosensitive 1 58 76 30 13 6
Amish Brittle Hair Brain Syndrome 58 76 74
Trichothiodystrophy-Neurocutaneous Syndrome 58 76
Trichorrhexis Nodosa Syndrome 76 74
Hair-Brain Syndrome 58 76
Pollitt Syndrome 58 76
Bids Syndrome 58 76
Ttdn1 58 76
Ttd4 58 76
Abhs 58 76
Trichothiodystrophy, Nonphotosensitive 1; Ttdn1 58
Trichothiodystrophy, Type 4, Nonphotosensitive 41
Trichothiodystrophy 4, Non-Photosensitive 76
Trichothiodystrophy Non-Photosensitive 1 76
Amish Brittle Hair Brain Syndrome; Abhs 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
trichothiodystrophy 4, nonphotosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 4, Nonphotosensitive

OMIM : 58 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 short nose

UniProtKB/Swiss-Prot : 76 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 46)
# Related Disease Score Top Affiliating Genes
1 blood group--abh antigen, type 2 12.1
2 trichothiodystrophy 1, photosensitive 11.5
3 trichohepatoenteric syndrome 1 11.5
4 nonphotosensitive trichothiodystrophy 11.5
5 bombay phenotype 11.2
6 allergic encephalomyelitis 10.4
7 bladder cancer 10.3
8 midline interhemispheric variant of holoprosencephaly 10.3
9 transitional cell carcinoma 10.2
10 rheumatic fever-related antigen 10.1
11 rheumatic fever 10.1
12 bladder urothelial carcinoma 10.1
13 myotonic dystrophy 10.1
14 myotonia atrophica 10.1
15 hypogonadism 10.1
16 hypogonadotropism 10.1
17 helicobacter pylori infection 10.0
18 papillary transitional carcinoma 10.0
19 lymphoma, mucosa-associated lymphoid type 9.9
20 retinoblastoma 9.9
21 lung cancer 9.9
22 cholangiocarcinoma 9.9
23 hemangioma 9.9
24 hematopoietic stem cell transplantation 9.9
25 angiosarcoma 9.9
26 rheumatic heart disease 9.9
27 lymphoma 9.9
28 filariasis 9.9
29 gastric ulcer 9.9
30 heart disease 9.9
31 optic neuritis 9.9
32 color blindness 9.9
33 schistosomiasis 9.9
34 cholera 9.9
35 duodenal ulcer 9.9
36 neuritis 9.9
37 hemorrhagic disease 9.9
38 arteriosclerosis 9.9
39 capillary hemangioma 9.9
40 ovarian cyst 9.9
41 peptic ulcer disease 9.9
42 in situ carcinoma 9.9
43 cervical intraepithelial neoplasia 9.9
44 autosomal recessive congenital ichthyosis 9.8
45 ichthyosis 9.8
46 dwarfism 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

Human phenotypes related to Trichothiodystrophy 4, Nonphotosensitive:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 short nose 33 occasional (7.5%) HP:0003196
3 anteverted nares 33 occasional (7.5%) HP:0000463
4 optic atrophy 33 occasional (7.5%) HP:0000648
5 retrognathia 33 occasional (7.5%) HP:0000278
6 epicanthus 33 occasional (7.5%) HP:0000286
7 cerebral cortical atrophy 33 occasional (7.5%) HP:0002120
8 keratoconjunctivitis sicca 33 occasional (7.5%) HP:0001097
9 microphthalmia 33 occasional (7.5%) HP:0000568
10 ventricular septal defect 33 occasional (7.5%) HP:0001629
11 microcornea 33 occasional (7.5%) HP:0000482
12 partial agenesis of the corpus callosum 33 occasional (7.5%) HP:0001338
13 severe muscular hypotonia 33 occasional (7.5%) HP:0006829
14 hypoplasia of teeth 33 occasional (7.5%) HP:0000685
15 intellectual disability 33 HP:0001249
16 macrotia 33 HP:0000400
17 global developmental delay 33 HP:0001263
18 microcephaly 33 HP:0000252
19 growth delay 33 HP:0001510
20 small nail 33 HP:0001792
21 decreased fertility 33 HP:0000144
22 woolly hair 33 HP:0002224
23 sparse hair 33 HP:0008070
24 concave nail 33 HP:0001598
25 trichorrhexis nodosa 33 HP:0009886
26 sparse eyelashes 33 HP:0000653
27 brittle hair 33 HP:0002299

Symptoms via clinical synopsis from OMIM:

58
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)

Genitourinary Internal Genitalia Male:
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

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 30 MPLKIP

Anatomical Context for Trichothiodystrophy 4, Nonphotosensitive

MalaCards organs/tissues related to Trichothiodystrophy 4, Nonphotosensitive:

42
Brain, Skin, Eye, Tongue

Publications for Trichothiodystrophy 4, Nonphotosensitive

Variations for Trichothiodystrophy 4, Nonphotosensitive

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

76
# 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 13)
# 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
12 MPLKIP NM_138701.3(MPLKIP): c.494G> T (p.Ser165Ile) single nucleotide variant Uncertain significance rs778910338 GRCh38 Chromosome 7, 40133105: 40133105
13 MPLKIP NM_138701.3(MPLKIP): c.494G> T (p.Ser165Ile) single nucleotide variant Uncertain significance rs778910338 GRCh37 Chromosome 7, 40172704: 40172704

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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