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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: Hair Diseases (D006201)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Monilethrix (D056734)
Child Nodes:
........Trueb Burg Bottani syndrome (C536565)
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:

7369

Name:

Monilethrix

Definition:

Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.

Alternative IDs:

OMIM:158000

ParentIDs:

MESH:D000015|MESH:D006201|MESH:D012873

TreeNumbers:

C16.131.077.592 |C16.320.850.647 |C17.800.329.984 |C17.800.827.602

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: D056734
MeSH: D056734
OMIM: 158000;

Genes: KRT81; KRT83; KRT86;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0001596	Alopecia
5	HP:0002299	Brittle hair
6	HP:0001425	Heterogeneous
7	HP:0002164	Nail dysplasia
8	HP:0008404	Nail dystrophy
9	HP:0001006	obsolete Hypotrichosis
10	HP:0007468	Perifollicular hyperkeratosis
11	HP:0003828	Variable expressivity

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_002281.3(KRT81):c.1237G>A (p.Glu413Lys)	-1	-	Pathogenic	57419521	RCV000007930; RCV000056952;	N	MedGen:C0546966,OMIM:158000,ORPHA:573,SNOMED CT:69488000; MedGen:CN221809	12	52680896	52680896	NM_002281.3:c.1237G>A	NP_002272.2:p.Glu413Lys	NC_000012.11:g.52680896C>T	OMIM Allelic Variant:602153.0001	C0546966 158000 Beaded hair; CN221809 not provided
NM_002281.3(KRT81):c.1204G>A (p.Glu402Lys)	-1	-	Pathogenic	56821304	RCV000007931; RCV000056951;	N	MedGen:C0546966,OMIM:158000,ORPHA:573,SNOMED CT:69488000; MedGen:CN221809	12	52680929	52680929	NM_002281.3:c.1204G>A	NP_002272.2:p.Glu402Lys	NC_000012.11:g.52680929C>T	OMIM Allelic Variant:602153.0002	C0546966 158000 Beaded hair; CN221809 not provided
NM_001320198.1(KRT86):c.340A>G (p.Asn114Asp)	-1	-	Pathogenic	61091894	RCV000008051; RCV000056963;	N	MedGen:C0546966,OMIM:158000,ORPHA:573,SNOMED CT:69488000; MedGen:CN221809	12	52696040	52696040	NM_001320198.1:c.340A>G	NP_001307127.1:p.Asn114Asp		OMIM Allelic Variant:601928.0004	C0546966 158000 Beaded hair; CN221809 not provided
NM_001320198.1(KRT86):c.353C>A (p.Ala118Glu)	-1	-	Pathogenic	60612575	RCV000008053; RCV000056965;	N	MedGen:C0546966,OMIM:158000,ORPHA:573,SNOMED CT:69488000; MedGen:CN221809	12	52696053	52696053	NM_001320198.1:c.353C>A	NP_001307127.1:p.Ala118Glu		OMIM Allelic Variant:601928.0006	C0546966 158000 Beaded hair; CN221809 not provided
NM_001320198.1(KRT86):c.1204G>A (p.Glu402Lys)	-1	-	Pathogenic	60687604	RCV000008050; RCV000056957;	N	MedGen:C0546966,OMIM:158000,ORPHA:573,SNOMED CT:69488000; MedGen:CN221809	12	52700021	52700021	NM_001320198.1:c.1204G>A	NP_001307127.1:p.Glu402Lys		OMIM Allelic Variant:601928.0003	C0546966 158000 Beaded hair; CN221809 not provided
NM_001320198.1(KRT86):c.1204G>C (p.Glu402Gln)	-1	-	Pathogenic	60687604	RCV000008052; RCV000056958;	N	MedGen:C0546966,OMIM:158000,ORPHA:573,SNOMED CT:69488000; MedGen:CN221809	12	52700021	52700021	NM_001320198.1:c.1204G>C	NP_001307127.1:p.Glu402Gln		OMIM Allelic Variant:601928.0005	C0546966 158000 Beaded hair; CN221809 not provided
NM_001320198.1(KRT86):c.1237G>A (p.Glu413Lys)	-1	-	Pathogenic	121909129	RCV000008048; RCV000056959;	N	MedGen:C0546966,OMIM:158000,ORPHA:573,SNOMED CT:69488000; MedGen:CN221809	12	52700054	52700054	NM_001320198.1:c.1237G>A	NP_001307127.1:p.Glu413Lys		OMIM Allelic Variant:601928.0001	C0546966 158000 Beaded hair; CN221809 not provided
NM_001320198.1(KRT86):c.1239G>T (p.Glu413Asp)	-1	-	Pathogenic	121909130	RCV000008049; RCV000056960;	N	MedGen:C0546966,OMIM:158000,ORPHA:573,SNOMED CT:69488000; MedGen:CN221809	12	52700056	52700056	NM_001320198.1:c.1239G>T	NP_001307127.1:p.Glu413Asp		OMIM Allelic Variant:601928.0002	C0546966 158000 Beaded hair; CN221809 not provided
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)	-1	-	Pathogenic	57802288	RCV000007239; RCV000056954;	N	MedGen:C0546966,OMIM:158000,ORPHA:573,SNOMED CT:69488000; MedGen:CN221809	12	52709720	52709720	NM_002282.3:c.1219G>A	NP_002273.3:p.Glu407Lys	NC_000012.11:g.52709720C>T	OMIM Allelic Variant:602765.0001	C0546966 158000 Beaded hair; CN221809 not provided