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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

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: Achondroplasia (D000130)
..Starting node ..Pseudoachondroplasia (C535819)
Child Nodes:
Sister Nodes:
..Achondrogenesis type 1A (C536015)
..Achondrogenesis type 1B (C536016)
..Achondrogenesis type 2 (C536017)
..Achondrogenesis, type 3 (C536018)
..Achondrogenesis, type 4 (C536019)
..Achondroplasia and Swiss type agammaglobulinemia (C536020)
..Achondroplastic dwarfism (C531599)
..Baby rattle pelvic dysplasia (C537794)
..Dyssegmental dysplasia, Rolland-Desbuquois type (C537999)
..Pseudoachondroplasia (C535819)
..Pseudoachondroplastic dysplasia 2 (C535820)
..Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency (C565984)
..Thanatophoric Dysplasia (D013796) 8
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9401

Name:

Pseudoachondroplasia

Definition:

Alternative IDs:

OMIM:177170

ParentIDs:

MESH:D000130

TreeNumbers:

C05.116.099.343.110/C535819 |C05.116.099.708.017/C535819 |C16.320.240.500/C535819

Synonyms:

PSACH |Pseudoachondroplastic dysplasia |Pseudoachondroplastic spondyloepiphyseal dysplasia |Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome |Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C535819
MeSH: C535819
OMIM: 177170;

Genes: COMP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011405	Childhood onset short-limb short stature
3	HP:0002829	Arthralgia
4	HP:0003414	Atlantoaxial dislocation
5	HP:0004568	Beaking of vertebral bodies
6	HP:0001156	Brachydactyly
7	HP:0001498	Carpal bone hypoplasia
8	HP:0002341	Cervical cord compression
9	HP:0002663	Delayed epiphyseal ossification
10	HP:0008873	Disproportionate short-limb short stature
11	HP:0002834	Flared femoral metaphysis
12	HP:0100168	Fragmented epiphyses
13	HP:0005063	Fragmented, irregular epiphyses
14	HP:0002816	Genu recurvatum
15	HP:0002857	Genu valgum
16	HP:0002970	Genu varum
17	HP:0003311	Hypoplasia of the odontoid process
18	HP:0004236	Irregular carpal bones
19	HP:0010582	Irregular epiphyses
20	HP:0001388	Joint laxity
21	HP:0002808	Kyphosis
22	HP:0001377	Limited elbow extension
23	HP:0003093	Limited hip extension
24	HP:0002938	Lumbar hyperlordosis
25	HP:0002758	Osteoarthritis
26	HP:0000926	Platyspondyly
27	HP:0004019	Radial metaphyseal irregularity
28	HP:0002650	Scoliosis
29	HP:0000763	Sensory neuropathy
30	HP:0009882	Short distal phalanx of finger
31	HP:0003026	Short long bone
32	HP:0010049	Short metacarpal
33	HP:0010236	Small epiphyses of the phalanges of the hand
34	HP:0012307	Spatulate ribs
35	HP:0009487	Ulnar deviation of the hand
36	HP:0003049	Ulnar deviation of the wrist
37	HP:0004042	Ulnar metaphyseal irregularity
38	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_000095.2(COMP):c.2156G>A (p.Gly719Asp)	1311	COMP	Pathogenic	137852655	RCV000033890; RCV000009772;	N	; MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18893935	18893935	NM_000095.2:c.2156G>A	NP_000086.2:p.Gly719Asp	NC_000019.9:g.18893935C>T	OMIM Allelic Variant:600310.0013	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.2155G>A (p.Gly719Ser)	1311	COMP	Pathogenic	312262904	RCV000033889;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18893936	18893936	NM_000095.2:c.2155G>A	NP_000086.2:p.Gly719Ser	NC_000019.9:g.18893936C>T	-	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1760A>G (p.His587Arg)	1311	COMP	Pathogenic	312262901	RCV000033888;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18895860	18895860	NM_000095.2:c.1760A>G	NP_000086.2:p.His587Arg	NC_000019.9:g.18895860T>C	-	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1754C>A (p.Thr585Lys)	1311	COMP	Pathogenic	312262900	RCV000033885;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18895866	18895866	NM_000095.2:c.1754C>A	NP_000086.2:p.Thr585Lys	NC_000019.9:g.18895866G>A,NC_000019.9:g.18895866G>C,NC_000019.9:g.18895866G>T	-	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1754C>G (p.Thr585Arg)	1311	COMP	Pathogenic	312262900	RCV000033886; RCV000055751;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005; MedGen:C1838280,OMIM:132400,ORPHA:93308	19	18895866	18895866	NM_000095.2:c.1754C>G	NP_000086.2:p.Thr585Arg	NC_000019.9:g.18895866G>A,NC_000019.9:g.18895866G>C,NC_000019.9:g.18895866G>T	-	C1838280 132400 Multiple epiphyseal dysplasia 1; C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1754C>T (p.Thr585Met)	1311	COMP	Pathogenic	312262900	RCV000033887; RCV000055752;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005; MedGen:C1838280,OMIM:132400,ORPHA:93308	19	18895866	18895866	NM_000095.2:c.1754C>T	NP_000086.2:p.Thr585Met	NC_000019.9:g.18895866G>A,NC_000019.9:g.18895866G>C,NC_000019.9:g.18895866G>T	-	C1838280 132400 Multiple epiphyseal dysplasia 1; C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1747G>A (p.Glu583Lys)	1311	COMP	Pathogenic	312262899	RCV000033884;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18895873	18895873	NM_000095.2:c.1747G>A	NP_000086.2:p.Glu583Lys	NC_000019.9:g.18895873C>T	-	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1586C>T (p.Thr529Ile)	1311	COMP	Pathogenic	312262903	RCV000033882;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18896565	18896565	NM_000095.2:c.1586C>T	NP_000086.2:p.Thr529Ile	NC_000019.9:g.18896565G>A	-	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp)	1311	COMP	Pathogenic	-1	RCV000009770;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18896845	18896847	NM_000095.2:c.1405_1407GAC[7]	NP_000086.2:p.Asp473_Asn474insAspAsp		OMIM Allelic Variant:600310.0011	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1417_1419dupGAC (p.Asp473_Asn474insAsp)	1311	COMP	Pathogenic	312262898	RCV000033881; RCV000009771;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005; MedGen:C1838280,OMIM:132400,ORPHA:93308	19	18896845	18896847	NM_000095.2:c.1417_1419dupGAC	NP_000086.2:p.Asp473_Asn474insAsp	NC_000019.9:g.18896845_18896847dupGTC	OMIM Allelic Variant:600310.0012	C1838280 132400 Multiple epiphyseal dysplasia 1; C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1417_1419delGAC (p.Asp473del)	1311	COMP	Pathogenic	312262897	RCV000033880;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18896845	18896847	NM_000095.2:c.1417_1419delGAC	NP_000086.2:p.Asp473del	NC_000019.9:g.18896845_18896847delGTC	-	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1414G>T (p.Asp472Tyr)	1311	COMP	Pathogenic	137852650	RCV000009761;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18896850	18896850	NM_000095.2:c.1414G>T	NP_000086.2:p.Asp472Tyr	NC_000019.9:g.18896850C>A	OMIM Allelic Variant:600310.0001	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1403G>A (p.Cys468Tyr)	1311	COMP	Pathogenic	137852651	RCV000009762;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18896861	18896861	NM_000095.2:c.1403G>A	NP_000086.2:p.Cys468Tyr	NC_000019.9:g.18896861C>T	OMIM Allelic Variant:600310.0002	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1156A>G (p.Asn386Asp)	1311	COMP	Benign	61739916	RCV000033879; RCV000055747;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005; MedGen:C1838280,OMIM:132400,ORPHA:93308	19	18897440	18897440	NM_000095.2:c.1156A>G	NP_000086.2:p.Asn386Asp	NC_000019.9:g.18897440T>C	-	C1838280 132400 Multiple epiphyseal dysplasia 1; C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.1042T>C (p.Cys348Arg)	1311	COMP	Pathogenic	137852656	RCV000009773;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18898393	18898393	NM_000095.2:c.1042T>C	NP_000086.2:p.Cys348Arg	NC_000019.9:g.18898393A>G	OMIM Allelic Variant:600310.0014	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
NM_000095.2(COMP):c.982T>C (p.Cys328Arg)	1311	COMP	Pathogenic	137852653	RCV000009766;	N	MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005	19	18898453	18898453	NM_000095.2:c.982T>C	NP_000086.2:p.Cys328Arg	NC_000019.9:g.18898453A>G	OMIM Allelic Variant:600310.0006	C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome