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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: Craniofacial Abnormalities (D019465)
Parent Node: Dwarfism (D004392)
Parent Node: Joint Instability (D007593)
Parent Node: Ossification, Heterotopic (D009999)
Parent Node: Polydactyly (D017689)
..Starting node ..Desbuquois syndrome (C535943)
Child Nodes:
Sister Nodes:
..Absence of tibia with polydactyly (C535564)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..Crossed Polydactyly, Type I (C566783)
..Dandy Walker malformation postaxial polydactyly (C535771)
..Desbuquois syndrome (C535943)
..Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
..Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..Garret Tripp syndrome (C535646)
..Hirschsprung disease polydactyly heart disease (C538120)
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..Holoprosencephaly 9 (C563659)
..Hydrolethalus Syndrome 1 (C565504)
..Kozlowski-Krajewska syndrome (C537615)
..Laurence Prosser Rocker syndrome (C537882)
..Liver Fibrocystic Disease and Polydactyly (C565272)
..Maroteaux Fonfria syndrome (C536023)
..McKusick Kaufman syndrome (C538159)
..Meckel Syndrome, Type 4 (C567003)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Mexican Cardiomelic Dysplasia (C563087)
..Oliver Syndrome (C564931)
..Pallister-Hall Syndrome (D054975)
..Pfeiffer Mayer syndrome (C537888)
..Polydactyly myopia syndrome (C536331)
..Polydactyly preaxial type 1 (C536332)
..Polydactyly, Postaxial (C562429)
..Polydactyly, Postaxial, Type A2 (C566585)
..Polydactyly, Postaxial, Type A3 (C564590)
..Polydactyly, Postaxial, Type A4 (C563909)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Polydactyly, preaxial 4 (C536333)
..POLYDACTYLY, PREAXIAL II (OMIM:174500)
..Polydactyly, Preaxial III (C566784)
..Polysyndactyly, Crossed (C566773)
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Preaxial Hallucal Polydactyly (C566632)
..Pseudotrisomy 13 syndrome (C535829)
..Santos Mateus Leal syndrome (C537235)
..Santos Syndrome (C567819)
..Scalp defects postaxial polydactyly (C536622)
..Short Rib-Polydactyly Syndrome (D012779) 3
..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
..Syndactyly, Type IV (C566092)
..Syndactyly-Polydactyly-Earlobe Syndrome (C566091)
..Synpolydactyly 2 (C564278)
..Synpolydactyly 3 (C565216)
..Synpolydactyly With Foot Anomalies (C566095)
..Thai Symphalangism Syndrome (C564303)
..Tibia absent polydactyly arachnoid cyst (C536918)
..Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
..Tibia, Hypoplasia of, with Polydactyly (C566046)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
..Urioste Martinez-Frias syndrome (C536478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3250

Name:

Desbuquois syndrome

Definition:

Alternative IDs:

OMIM:251450

ParentIDs:

MESH:D004392|MESH:D007593|MESH:D009999|MESH:D017689|MESH:D019465

TreeNumbers:

C05.116.099.343/C535943 |C05.550.521/C535943 |C05.660.207/C535943 |C05.660.585.600/C535943 |C16.131.621.207/C535943 |C16.131.621.585.600/C535943 |C16.320.240/C535943 |C19.297/C535943 |C23.550.751/C535943

Synonyms:

DBQD1 |Desbuquois Dysplasia |DESBUQUOIS DYSPLASIA 1 |DESBUQUOIS SYNDROME |Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification |MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CAR

Slim Mappings:

Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C535943
MeSH: C535943
OMIM: 251450;

Genes: CANT1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004233	Advanced ossification of carpal bones
3	HP:0008108	Advanced tarsal ossification
4	HP:0009611	Bifid distal phalanx of the thumb
5	HP:0001156	Brachydactyly
6	HP:0006429	Broad femoral neck
7	HP:0010068	Broad first metatarsal
8	HP:0002673	Coxa valga
9	HP:0002812	Coxa vara
10	HP:0005280	Depressed nasal bridge
11	HP:0001087	Developmental glaucoma
12	HP:0008873	Disproportionate short-limb short stature
13	HP:0003180	Flat acetabular roof
14	HP:0003071	Flattened epiphysis
15	HP:0001290	Generalized hypotonia
16	HP:0002970	Genu varum
17	HP:0003307	Hyperlordosis
18	HP:0001252	Hypotonia
19	HP:0001249	Intellectual disability
20	HP:0001388	Joint laxity
21	HP:0002808	Kyphosis
22	HP:0000272	Malar flattening
23	HP:0008082	Medial deviation of the foot
24	HP:0003016	Metaphyseal widening
25	HP:0000308	Microretrognathia
26	HP:0011800	Midface retrusion
27	HP:0001270	Motor delay
28	HP:0000545	Myopia
29	HP:0000774	Narrow chest
30	HP:0000160	Narrow mouth
31	HP:0001513	Obesity
32	HP:0002758	Osteoarthritis
33	HP:0000939	Osteoporosis
34	HP:0010097	Partial duplication of the distal phalanx of the hallux
35	HP:0001763	Pes planus
36	HP:0006243	Phalangeal dislocation
37	HP:0000926	Platyspondyly
38	HP:0000520	Proptosis
39	HP:0005067	Proximal fibular overgrowth
40	HP:0006439	Radioulnar dislocation
41	HP:0000311	Round face
42	HP:0001852	Sandal gap
43	HP:0002650	Scoliosis
44	HP:0003510	Severe short stature
45	HP:0010034	Short 1st metacarpal
46	HP:0100864	Short femoral neck
47	HP:0010743	Short metatarsal
48	HP:0000470	Short neck
49	HP:0003196	Short nose
50	HP:0001762	Talipes equinovarus
51	HP:0003828	Variable expressivity
52	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_001159772.1(CANT1):c.1079C>A (p.Ala360Asp)	124583	CANT1	Pathogenic	387907081	RCV000024011;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76989759	76989759	NM_001159772.1:c.1079C>A	NP_001153244.1:p.Ala360Asp	NC_000017.10:g.76989759G>T	OMIM Allelic Variant:613165.0014	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.909_910insGCCGC (p.Gln304Alafs)	124583	CANT1	Pathogenic	587776510	RCV000000305;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76989928	76989929	NM_001159772.1:c.909_910insGCCGC	NP_001153244.1:p.Gln304Alafs		OMIM Allelic Variant:613165.0005	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.902_906dupGCGCC (p.Ser303Alafs)	124583	CANT1	Pathogenic	587776895	RCV000024005;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76989932	76989936	NM_001159772.1:c.902_906dupGCGCC	NP_001153244.1:p.Ser303Alafs		OMIM Allelic Variant:613165.0008	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.899G>A (p.Arg300His)	124583	CANT1	Pathogenic	267606699	RCV000000304;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76989939	76989939	NM_001159772.1:c.899G>A	NP_001153244.1:p.Arg300His	NC_000017.10:g.76989939C>T	OMIM Allelic Variant:613165.0004	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.898C>T (p.Arg300Cys)	124583	CANT1	Pathogenic	267606701	RCV000000303;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76989940	76989940	NM_001159772.1:c.898C>T	NP_001153244.1:p.Arg300Cys	NC_000017.10:g.76989940G>A	OMIM Allelic Variant:613165.0003	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.896C>T (p.Pro299Leu)	124583	CANT1	Pathogenic	267606700	RCV000000307;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76989942	76989942	NM_001159772.1:c.896C>T	NP_001153244.1:p.Pro299Leu	NC_000017.10:g.76989942G>A	OMIM Allelic Variant:613165.0007	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.836-9G>A	124583	CANT1	Likely pathogenic	538543007	RCV000178383;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76990011	76990011	NM_001159772.1:c.836-9G>A		NC_000017.10:g.76990011C>T	-	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.734delC (p.Pro245Argfs)	124583	CANT1	Pathogenic	587776509	RCV000000302;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76991201	76991201	NM_001159772.1:c.734delC	NP_001153244.1:p.Pro245Argfs		OMIM Allelic Variant:613165.0002	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.676G>A (p.Val226Met)	124583	CANT1	Pathogenic	377546036	RCV000024010;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76991259	76991259	NM_001159772.1:c.676G>A	NP_001153244.1:p.Val226Met	NC_000017.10:g.76991259C>T	OMIM Allelic Variant:613165.0013	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.671T>C (p.Leu224Pro)	124583	CANT1	Pathogenic	150181226	RCV000024008;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76991264	76991264	NM_001159772.1:c.671T>C	NP_001153244.1:p.Leu224Pro	NC_000017.10:g.76991264A>G	OMIM Allelic Variant:613165.0011	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.375G>C (p.Trp125Cys)	124583	CANT1	Pathogenic	587776898	RCV000024009;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76993330	76993330	NM_001159772.1:c.375G>C	NP_001153244.1:p.Trp125Cys	17:g.76993330C>G	OMIM Allelic Variant:613165.0012	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.374G>A (p.Trp125Ter)	124583	CANT1	Pathogenic	267606702	RCV000000306;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76993331	76993331	NM_001159772.1:c.374G>A	NP_001153244.1:p.Trp125Ter	NC_000017.10:g.76993331C>T	OMIM Allelic Variant:613165.0006	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.277_278delCT (p.Leu93Valfs)	124583	CANT1	Pathogenic	587776897	RCV000024007;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76993427	76993428	NM_001159772.1:c.277_278delCT	NP_001153244.1:p.Leu93Valfs	NC_000017.10:g.76993427_76993428delAG	OMIM Allelic Variant:613165.0010	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.278delT (p.Leu93Argfs)	124583	CANT1	Pathogenic	767601069	RCV000175968;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76993427	76993427	NM_001159772.1:c.278delT	NP_001153244.1:p.Leu93Argfs	NC_000017.10:g.76993427delA	-	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.228dupC (p.Trp77Leufs)	124583	CANT1	Pathogenic	587776896	RCV000024006;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	76993477	76993477	NM_001159772.1:c.228dupC	NP_001153244.1:p.Trp77Leufs		OMIM Allelic Variant:613165.0009	C0432242 251450 Desbuquois syndrome
NM_001159772.1(CANT1):c.-286+1G>A	124583	CANT1	Pathogenic	587776951	RCV000034325;	N	MedGen:C0432242,OMIM:251450,ORPHA:1425,SNOMED CT:254099008	17	77005745	77005745	NM_001159772.1:c.-286+1G>A		17:g.77005745C>T	OMIM Allelic Variant:613165.0015	C0432242 251450 Desbuquois syndrome