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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: Hair Diseases (D006201)
..Starting node ..Hypotrichosis (D007039)
Child Nodes:
........Alopecia (D000505) 61
........Basaran Yilmaz syndrome (C537660)
........Bazex-Dupre-Christol syndrome (C537663)
........Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
........Ectodermal Dysplasia, Trichoodontoonychial Type (C565068)
........Hypotrichosis 5 (C567554)
........Hypotrichosis And Recurrent Skin Vesicles (C567751)
........Hypotrichosis simplex (C537160) 1
........Hypotrichosis Simplex of Scalp (C564143)
........Hypotrichosis, Localized, Autosomal Recessive 1 (C564312)
........Hypotrichosis, Localized, Autosomal Recessive, 3 (C566950)
........Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate (C563765)
........Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
........Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
........Ichthyosis with hypotrichosis, autosomal recessive (C536273) 1
........Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) 1
........Juvenile macular degeneration and hypotrichosis (C537698)
........Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
........Marie Unna congenital hypotrichosis (C535912)
........Marie Unna Hereditary Hypotrichosis 1 (C567718)
........Nicolaides Baraitser syndrome (C536116)
........Rombo syndrome (C535870)
........Schopf-Schulz-Passarge Syndrome (C565607)
........Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
........Storm Syndrome (C566109)
........Trichoodontoonychial Dysplasia (C564760)
Sister Nodes:
..Bamforth syndrome (C537901)
..Bird headed dwarfism Montreal type (C535448)
..Bjornstad syndrome (C537633)
..Cardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..Catatrichy (C535346)
..Copper deficiency, familial benign (C535468)
..Curly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..Dermoodontodysplasia (C565103)
..ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..FLOTCH syndrome (C537065)
..Folliculitis (D005499) 2
..Giedion syndrome (C536820)
..Hairy palms and soles (C535620)
..Hirsutism (D006628) 6
..Hypertrichosis (D006983) 27
..Hypotrichosis (D007039) 89
..Kaler Garrity Stern syndrome (C537706)
..Katsantoni Papadakou Lagoyanni syndrome (C537012)
..Kozlowski-Krajewska syndrome (C537615)
..Martinez Monasterio Pinheiro syndrome (C536027)
..Menkes Kinky Hair Syndrome (D007706) 1
..Monilethrix (D056734) 1
..Naxos disease (C538346)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Piedra (D010854)
..Pili annulati (C537187)
..Pili multigemini (C537188)
..Pili Torti (C562485)
..Pili torti developmental delay neurological abnormalities (C537398)
..Pili torti onychodysplasia (C537399)
..Pseudofolliculitis Barbae (C563016)
..Pseudomonilethrix (C562988)
..Rodrigues blindness (C535865)
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Trichilemmal Cyst 1 (C566458)
..Tricho-dento-osseous syndrome (C536549)
..Tricho-dento-osseous syndrome 1 (C536550)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Trichodysplasia-Xeroderma (C566032)
..Trichohepatoenteric Syndrome (C565627)
..Trichorhinophalangeal Syndrome, Type III (C566033)
..Trichostasis spinulosa (C536558)
..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..Uncombable hair syndrome (C536939)
..White forelock with malformations (C536700)
..WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
..Woolly Hair, Autosomal Recessive (C564735)
..Woolly hair, congenital (C536745)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5645

Name:

Hypotrichosis

Definition:

Presence of less than the normal amount of hair. (Dorland, 27th ed)

Alternative IDs:

OMIM:278150|OMIM:604379|OMIM:607903|OMIM:614237|OMIM:614238

ParentIDs:

MESH:D006201

TreeNumbers:

C17.800.329.937

Synonyms:

Slim Mappings:

Skin disease

Reference:

MedGen: D007039
MeSH: D007039
OMIM: 278150;

Genes: DSG4; LIPH; LPAR6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0002208	Coarse hair
4	HP:0011359	Dry hair	HP:0040283
5	HP:0002286	Fair hair
6	HP:0001803	Nail pits	HP:0040283
7	HP:0001006	obsolete Hypotrichosis
8	HP:0001807	Ridged nail	HP:0040283
9	HP:0000535	Sparse and thin eyebrow	HP:0040283
10	HP:0002215	Sparse axillary hair	HP:0040283
11	HP:0000653	Sparse eyelashes	HP:0040283
12	HP:0002209	Sparse scalp hair	HP:0040283
13	HP:0002224	Woolly hair	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_005767.5(LPAR6):c.587C>T (p.Pro196Leu)	-1	-	Pathogenic	115596308	RCV000023760;	N	MedGen:C1848435,OMIM:278150	13	48985973	48985973	NM_005767.5:c.587C>T	NP_005758.2:p.Pro196Leu	NC_000013.10:g.48985973G>A	OMIM Allelic Variant:609239.0007	C1848435 278150 Hypotrichosis 8
NM_005767.5(LPAR6):c.565G>A (p.Glu189Lys)	-1	-	Pathogenic	121434309	RCV000001903;	N	MedGen:C1848435,OMIM:278150	13	48985995	48985995	NM_005767.5:c.565G>A	NP_005758.2:p.Glu189Lys	NC_000013.10:g.48985995C>T	OMIM Allelic Variant:609239.0006	C1848435 278150 Hypotrichosis 8
NM_005767.5(LPAR6):c.463C>T (p.Gln155Ter)	-1	-	Pathogenic	121434306	RCV000001898;	N	MedGen:C1848435,OMIM:278150	13	48986097	48986097	NM_005767.5:c.463C>T	NP_005758.2:p.Gln155Ter	NC_000013.10:g.48986097G>A	OMIM Allelic Variant:609239.0001	C1848435 278150 Hypotrichosis 8
NM_005767.5(LPAR6):c.436G>A (p.Gly146Arg)	-1	-	Pathogenic	121434308	RCV000001902;	N	MedGen:C1848435,OMIM:278150	13	48986124	48986124	NM_005767.5:c.436G>A	NP_005758.2:p.Gly146Arg	NC_000013.10:g.48986124C>T	OMIM Allelic Variant:609239.0005	C1848435 278150 Hypotrichosis 8
NM_181534.3(KRT25):c.950T>C (p.Leu317Pro)	147183	KRT25	Pathogenic	766783183	RCV000201248; RCV000203575;	N	MedGen:C1848435,OMIM:278150; MedGen:CN234890,OMIM:616760	17	38907213	38907213	NM_181534.3:c.950T>C	NP_853512.1:p.Leu317Pro	NC_000017.10:g.38907213A>G	OMIM Allelic Variant:616646.0001	CN234890 616760 Autosomal recessive woolly hair 3; C1848435 278150 Hypotrichosis 8