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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Skin Abnormalities (D012868)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Trichothiodystrophy Syndromes (D054463)
Child Nodes:
........Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
........Sabinas brittle hair syndrome (C536320)
........Trichorrhexis nodosa syndrome (C536556)
........Trichothiodystrophy with Sun Sensitivity (C564733)
........TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..dowling-degos disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11249

Name:

Trichothiodystrophy Syndromes

Definition:

Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.

Alternative IDs:

OMIM:234050

ParentIDs:

MESH:D000015|MESH:D012868|MESH:D012873

TreeNumbers:

C16.131.077.899 |C16.131.831.874 |C16.320.850.895 |C17.800.804.874 |C17.800.827.895

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: D054463
MeSH: D054463
OMIM: 234050;

Genes: MPLKIP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0010719	Abnormality of hair texture
3	HP:0000463	Anteverted nares	HP:0040283
4	HP:0002299	Brittle hair
5	HP:0002120	Cerebral cortical atrophy	HP:0040283
6	HP:0001598	Concave nail
7	HP:0000144	Decreased fertility
8	HP:0000286	Epicanthus	HP:0040283
9	HP:0001263	Global developmental delay
10	HP:0001510	Growth delay
11	HP:0000685	Hypoplasia of teeth	HP:0040283
12	HP:0001249	Intellectual disability
13	HP:0001097	Keratoconjunctivitis sicca	HP:0040283
14	HP:0000400	Macrotia
15	HP:0000252	Microcephaly
16	HP:0000482	Microcornea	HP:0040283
17	HP:0000568	Microphthalmia	HP:0040283
18	HP:0000639	Nystagmus	HP:0040283
19	HP:0000648	Optic atrophy	HP:0040283
20	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283
21	HP:0000278	Retrognathia	HP:0040283
22	HP:0006829	Severe muscular hypotonia	HP:0040283
23	HP:0003196	Short nose	HP:0040283
24	HP:0001792	Small nail
25	HP:0008070	Sparse hair
26	HP:0009886	Trichorrhexis nodosa
27	HP:0001629	Ventricular septal defect	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_138701.3(MPLKIP):c.430A>G (p.Met144Val)	136647	MPLKIP	Pathogenic	137853117	RCV000001918;	N	MedGen:C1961117,OMIM:234050	7	40172768	40172768	NM_138701.3:c.430A>G	NP_619646.1:p.Met144Val	NC_000007.13:g.40172768T>C	OMIM Allelic Variant:609188.0001	C1961117 234050 Trichothiodystrophy, nonphotosensitive 1
NM_138701.3(MPLKIP):c.339+1G>A	136647	MPLKIP	Pathogenic	869312900	RCV000210474;	N	MedGen:C1961117,OMIM:234050	7	40173827	40173827	NM_138701.3:c.339+1G>A		NC_000007.13:g.40173827C>T	-	C1961117 234050 Trichothiodystrophy, nonphotosensitive 1
NM_138701.3(MPLKIP):c.277delT (p.Ser93Profs)	136647	MPLKIP	Pathogenic	587776532	RCV000001921;	N	MedGen:C1961117,OMIM:234050	7	40173890	40173890	NM_138701.3:c.277delT	NP_619646.1:p.Ser93Profs		OMIM Allelic Variant:609188.0004	C1961117 234050 Trichothiodystrophy, nonphotosensitive 1
NM_138701.3(MPLKIP):c.137_138delGG (p.Gly46Glufs)	136647	MPLKIP	Pathogenic	587776531	RCV000001919;	N	MedGen:C1961117,OMIM:234050	7	40174029	40174030	NM_138701.3:c.137_138delGG	NP_619646.1:p.Gly46Glufs		OMIM Allelic Variant:609188.0002	C1961117 234050 Trichothiodystrophy, nonphotosensitive 1