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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

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

Disease Browser
Parent Node: Arteriosclerosis (D001161)
Parent Node: Immunologic Deficiency Syndromes (D007153)
Parent Node: Nephrotic Syndrome (D009404)
Parent Node: Osteochondrodysplasias (D010009)
Parent Node: Pulmonary Embolism (D011655)
..Starting node ..Schimke immunoosseous dysplasia (C536629)
Child Nodes:
Sister Nodes:
..PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO (OMIM:612862)
..Pulmonary Infarction (D054060)
..Schimke immunoosseous dysplasia (C536629)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10016

Name:

Schimke immunoosseous dysplasia

Definition:

Alternative IDs:

OMIM:242900

ParentIDs:

MESH:D001161|MESH:D007153|MESH:D009404|MESH:D010009|MESH:D011655

TreeNumbers:

C05.116.099.708/C536629 |C08.381.746/C536629 |C12.777.419.630.643/C536629 |C13.351.968.419.630.643/C536629 |C14.907.137.126/C536629 |C14.907.355.350.700/C536629 |C20.673/C536629

Synonyms:

Immunoosseous dysplasia Schimke type |Immunoosseous Dysplasia, Schimke Type |Schimke Immuno-Osseous Dysplasia |SCHIMKE IMMUNOOSSEOUS DYSPLASIA |SIOD

Slim Mappings:

Reference:

MedGen: C536629
MeSH: C536629
OMIM: 242900;

Genes: SMARCAL1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0010701	Abnormal immunoglobulin level
3	HP:0002843	Abnormal T cell morphology
4	HP:0001903	Anemia
5	HP:0002634	Arteriosclerosis
6	HP:0000483	Astigmatism
7	HP:0000414	Bulbous nose
8	HP:0002208	Coarse hair
9	HP:0005280	Depressed nasal bridge
10	HP:0003521	Disproportionate short-trunk short stature
11	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
12	HP:0002213	Fine hair
13	HP:0000097	Focal segmental glomerulosclerosis
14	HP:0001620	High pitched voice
15	HP:0001034	Hypermelanotic macule
16	HP:0000822	Hypertension
17	HP:0003090	Hypoplasia of the capital femoral epiphysis
18	HP:0001511	Intrauterine growth retardation	HP:0040284
19	HP:0006453	Lateral displacement of the femoral head
20	HP:0002938	Lumbar hyperlordosis
21	HP:0001888	Lymphopenia
22	HP:0000691	Microdontia
23	HP:0001270	Motor delay
24	HP:0000545	Myopia
25	HP:0000100	Nephrotic syndrome
26	HP:0001875	Neutropenia
27	HP:0007759	Opacification of the corneal stroma
28	HP:0000938	Osteopenia
29	HP:0003300	Ovoid vertebral bodies
30	HP:0000926	Platyspondyly
31	HP:0000093	Proteinuria
32	HP:0001538	Protuberant abdomen
33	HP:0002719	Recurrent infections
34	HP:0000083	Renal insufficiency
35	HP:0003182	Shallow acetabular fossae
36	HP:0000470	Short neck
37	HP:0002655	Spondyloepiphyseal dysplasia
38	HP:0002942	Thoracic kyphosis
39	HP:0001873	Thrombocytopenia
40	HP:0002326	Transient ischemic attack
41	HP:0002515	Waddling gait

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_014140.3(SMARCAL1):c.49C>T (p.Arg17Ter)	50485	SMARCAL1	Pathogenic	119473034	RCV000004389;	N	MedGen:C0877024,OMIM:242900,ORPHA:1830	2	217279476	217279476	NM_014140.3:c.49C>T	NP_054859.2:p.Arg17Ter	NC_000002.11:g.217279476C>T	OMIM Allelic Variant:606622.0002	C0877024 242900 Schimke immunoosseous dysplasia
NM_014140.3(SMARCAL1):c.100C>T (p.Gln34Ter)	50485	SMARCAL1	Pathogenic	119473035	RCV000004390;	N	MedGen:C0877024,OMIM:242900,ORPHA:1830	2	217279527	217279527	NM_014140.3:c.100C>T	NP_054859.2:p.Gln34Ter	NC_000002.11:g.217279527C>T	OMIM Allelic Variant:606622.0003	C0877024 242900 Schimke immunoosseous dysplasia
NM_014140.3(SMARCAL1):c.1132G>T (p.Glu378Ter)	50485	SMARCAL1	Pathogenic	864309531	RCV000202608;	N	MedGen:C0877024,OMIM:242900,ORPHA:1830	2	217288391	217288391	NM_014140.3:c.1132G>T	NP_054859.2:p.Glu378Ter	NC_000002.11:g.217288391G>T	-	C0877024 242900 Schimke immunoosseous dysplasia
NM_014140.3(SMARCAL1):c.1643T>A (p.Ile548Asn)	50485	SMARCAL1	Pathogenic	119473036	RCV000004391;	N	MedGen:C0877024,OMIM:242900,ORPHA:1830	2	217300218	217300218	NM_014140.3:c.1643T>A	NP_054859.2:p.Ile548Asn	NC_000002.11:g.217300218T>A	OMIM Allelic Variant:606622.0004	C0877024 242900 Schimke immunoosseous dysplasia
NM_014140.3(SMARCAL1):c.1756C>T (p.Arg586Trp)	50485	SMARCAL1	Pathogenic	119473038	RCV000004393;	N	MedGen:C0877024,OMIM:242900,ORPHA:1830	2	217311786	217311786	NM_014140.3:c.1756C>T	NP_054859.2:p.Arg586Trp	NC_000002.11:g.217311786C>T	OMIM Allelic Variant:606622.0006	C0877024 242900 Schimke immunoosseous dysplasia
NM_014140.3(SMARCAL1):c.1933C>T (p.Arg645Cys)	50485	SMARCAL1	Pathogenic	119473037	RCV000004392;	N	MedGen:C0877024,OMIM:242900,ORPHA:1830	2	217315650	217315650	NM_014140.3:c.1933C>T	NP_054859.2:p.Arg645Cys	NC_000002.11:g.217315650C>T	OMIM Allelic Variant:606622.0005	C0877024 242900 Schimke immunoosseous dysplasia
NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln)	50485	SMARCAL1	Pathogenic	267607071	RCV000004395;	N	MedGen:C0877024,OMIM:242900,ORPHA:1830	2	217340038	217340038	NM_014140.3:c.2291G>A	NP_054859.2:p.Arg764Gln	NC_000002.11:g.217340038G>A	OMIM Allelic Variant:606622.0008	C0877024 242900 Schimke immunoosseous dysplasia
NM_014140.3(SMARCAL1):c.2542G>T (p.Glu848Ter)	50485	SMARCAL1	Pathogenic	119473033	RCV000004388;	N	MedGen:C0877024,OMIM:242900,ORPHA:1830	2	217342939	217342939	NM_014140.3:c.2542G>T	NP_054859.2:p.Glu848Ter	NC_000002.11:g.217342939G>T	OMIM Allelic Variant:606622.0001	C0877024 242900 Schimke immunoosseous dysplasia