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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

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

Disease Browser
Parent Node: Amyloidosis, Familial (D028226)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Amyloidosis IX (C562643)
Child Nodes:
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:

576

Name:

Amyloidosis IX

Definition:

Alternative IDs:

OMIM:105250

ParentIDs:

MESH:D012873|MESH:D028226

TreeNumbers:

C16.320.565.176/C562643 |C16.320.850/C562643 |C17.800.827/C562643 |C18.452.648.176/C562643 |C18.452.845.500.075/C562643

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Skin disease

Reference:

MedGen: C562643
MeSH: C562643
OMIM: 105250;

Genes: OSMR;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0001291	Abnormal cranial nerve morphology
4	HP:0011034	Amyloidosis
5	HP:0000973	Cutis laxa
6	HP:0001149	Lattice corneal dystrophy
7	HP:0000989	Pruritus

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_003999.2(OSMR):c.1853G>C (p.Gly618Ala)	9180	OSMR	Pathogenic	63750560	RCV000008252;	N	MedGen:C0268398,OMIM:105250	5	38923339	38923339	NM_003999.2:c.1853G>C	NP_003990.1:p.Gly618Ala	NC_000005.9:g.38923339G>C	OMIM Allelic Variant:601743.0002	C0268398 105250 Primary localized cutaneous amyloidosis 1
NM_003999.2(OSMR):c.1940A>T (p.Asp647Val)	9180	OSMR	Pathogenic	387906821	RCV000023143;	N	MedGen:C0268398,OMIM:105250	5	38924593	38924593	NM_003999.2:c.1940A>T	NP_003990.1:p.Asp647Val	NC_000005.9:g.38924593A>T	OMIM Allelic Variant:601743.0003	C0268398 105250 Primary localized cutaneous amyloidosis 1
NM_003999.2(OSMR):c.2072T>C (p.Ile691Thr)	9180	OSMR	Pathogenic	63750567	RCV000008251;	N	MedGen:C0268398,OMIM:105250	5	38925333	38925333	NM_003999.2:c.2072T>C	NP_003990.1:p.Ile691Thr	NC_000005.9:g.38925333T>C	OMIM Allelic Variant:601743.0001	C0268398 105250 Primary localized cutaneous amyloidosis 1
NM_003999.2(OSMR):c.2081C>T (p.Pro694Leu)	9180	OSMR	Pathogenic	387906822	RCV000023144;	N	MedGen:C0268398,OMIM:105250	5	38925342	38925342	NM_003999.2:c.2081C>T	NP_003990.1:p.Pro694Leu	NC_000005.9:g.38925342C>T	OMIM Allelic Variant:601743.0004	C0268398 105250 Primary localized cutaneous amyloidosis 1
NM_003999.2(OSMR):c.2090A>C (p.Lys697Thr)	9180	OSMR	Pathogenic	387906823	RCV000023145;	N	MedGen:C0268398,OMIM:105250	5	38925351	38925351	NM_003999.2:c.2090A>C	NP_003990.1:p.Lys697Thr	NC_000005.9:g.38925351A>C	OMIM Allelic Variant:601743.0005	C0268398 105250 Primary localized cutaneous amyloidosis 1