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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

Disease Browser
Parent Node: Connective Tissue Diseases (D003240)
Parent Node: Contracture (D003286)
Parent Node: Rupture, Spontaneous (D012422)
..Starting node ..Bone Fragility with Contractures, Arterial Rupture, and Deafness (C567320)
Child Nodes:
Sister Nodes:
..Bone Fragility with Contractures, Arterial Rupture, and Deafness (C567320)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1365

Name:

Bone Fragility with Contractures, Arterial Rupture, and Deafness

Definition:

Alternative IDs:

OMIM:612394

ParentIDs:

MESH:D003240|MESH:D003286|MESH:D012422

TreeNumbers:

C05.550.323/C567320 |C05.651.197/C567320 |C17.300/C567320 |C23.300.909/C567320

Synonyms:

LH3 Deficiency |Lysyl Hydroxylase 3 Deficiency

Slim Mappings:

Connective tissue disease|Musculoskeletal disease|Pathology (anatomical condition)

Reference:

MedGen: C567320
MeSH: C567320
OMIM: 612394;

Genes: PLOD3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000377	Abnormality of the pinna
3	HP:0000463	Anteverted nares
4	HP:0025019	Arterial rupture
5	HP:0000978	Bruising susceptibility
6	HP:0000518	Cataract
7	HP:0002208	Coarse hair
8	HP:0006184	Decreased palmar creases
9	HP:0009110	Diaphragmatic eventration
10	HP:0004944	Dilatation of the cerebral artery
11	HP:0002714	Downturned corners of mouth
12	HP:0002987	Elbow flexion contracture
13	HP:0012368	Flat face
14	HP:0001263	Global developmental delay
15	HP:0000365	Hearing impairment
16	HP:0003090	Hypoplasia of the capital femoral epiphysis
17	HP:0001511	Intrauterine growth retardation
18	HP:0002680	J-shaped sella turcica
19	HP:0000343	Long philtrum
20	HP:0000369	Low-set ears
21	HP:0000272	Malar flattening
22	HP:0000545	Myopia
23	HP:0002164	Nail dysplasia
24	HP:0000938	Osteopenia
25	HP:0002756	Pathologic fracture
26	HP:0000926	Platyspondyly
27	HP:0008897	Postnatal growth retardation
28	HP:0002650	Scoliosis
29	HP:0000586	Shallow orbits
30	HP:0003196	Short nose
31	HP:0001762	Talipes equinovarus
32	HP:0003393	Thenar muscle atrophy

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	Disease_hgmd
NM_001084.4(PLOD3):c.2071delT (p.Cys691Alafs)	8985	PLOD3	Pathogenic	786205872	RCV000007023;	N	MedGen:C2676285,OMIM:612394,ORPHA:300284	7	100849708	100849708	NM_001084.4:c.2071delT	NP_001075.1:p.Cys691Alafs	NC_000007.13:g.100849708delA	OMIM Allelic Variant:603066.0002	C2676285 612394 Bone fragility with contractures, arterial rupture, and deafness
NM_001084.4(PLOD3):c.668A>G (p.Asn223Ser)	8985	PLOD3	Pathogenic	121434414	RCV000007022;	N	MedGen:C2676285,OMIM:612394,ORPHA:300284	7	100858381	100858381	NM_001084.4:c.668A>G	NP_001075.1:p.Asn223Ser	NC_000007.13:g.100858381T>C	OMIM Allelic Variant:603066.0001	C2676285 612394 Bone fragility with contractures, arterial rupture, and deafness