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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

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: Abnormalities, Multiple (D000015)
Parent Node: Calcinosis (D002114)
Parent Node: Cartilage Diseases (D002357)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Pulmonary Valve Stenosis (D011666)
..Starting node ..Keutel syndrome (C536167)
Child Nodes:
Sister Nodes:
..Ciuffo Syndrome (C566733)
..Hordnes Engebretsen Knudtson syndrome (C536067)
..Keutel syndrome (C536167)
..LEOPARD Syndrome (D044542) 2
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Pulmonary Subvalvular Stenosis (D011662)
..Pulmonic Stenosis and Congenital Nephrosis (C562895)
..WATSON SYNDROME (OMIM:193520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6091

Name:

Keutel syndrome

Definition:

Alternative IDs:

OMIM:245150

ParentIDs:

MESH:D000015|MESH:D002114|MESH:D002357|MESH:D006228|MESH:D011666

TreeNumbers:

C05.182/C536167 |C05.390.408/C536167 |C05.660.585.988.425/C536167 |C14.280.484.716/C536167 |C14.280.955.750/C536167 |C16.131.077/C536167 |C16.131.621.585.425/C536167 |C17.300.182/C536167 |C18.452.174.130/C536167

Synonyms:

KTLS |Pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Connective tissue disease|Metabolic disease|Musculoskeletal disease

Reference:

MedGen: C536167
MeSH: C536167
OMIM: 245150;

Genes: MGP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005103	Calcification of the auricular cartilage
3	HP:0008747	Cartilaginous ossification of larynx
4	HP:0005275	Cartilaginous ossification of nose
5	HP:0002514	Cerebral calcification
6	HP:0011109	Chronic sinusitis
7	HP:0006646	Costal cartilage calcification
8	HP:0002002	Deep philtrum
9	HP:0005280	Depressed nasal bridge
10	HP:0010655	Epiphyseal stippling
11	HP:0001507	Growth abnormality
12	HP:0000365	Hearing impairment
13	HP:0001256	Intellectual disability, mild
14	HP:0000276	Long face
15	HP:0000400	Macrotia
16	HP:0000272	Malar flattening
17	HP:0011800	Midface retrusion
18	HP:0001611	Nasal speech
19	HP:0004969	Peripheral pulmonary artery stenosis
20	HP:0006140	Premature fusion of phalangeal epiphyses
21	HP:0004971	Pulmonary artery hypoplasia
22	HP:0001642	Pulmonic stenosis
23	HP:0002837	Recurrent bronchitis
24	HP:0000403	Recurrent otitis media
25	HP:0001250	Seizure
26	HP:0009882	Short distal phalanx of finger
27	HP:0010109	Short hallux
28	HP:0009778	Short thumb
29	HP:0000246	Sinusitis
30	HP:0005268	Spontaneous abortion
31	HP:0001629	Ventricular septal defect

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_000900.3(MGP):c.94+1G>A	4256	MGP	Pathogenic	111320759	RCV000015418;	N	MedGen:C1855607,OMIM:245150,ORPHA:85202	12	15037146	15037146	NM_000900.3:c.94+1G>A		NC_000012.11:g.15037146C>T	OMIM Allelic Variant:154870.0004	C1855607 245150 Keutel syndrome
NM_000900.3(MGP):c.87T>A (p.Tyr29Ter)	4256	MGP	Pathogenic	730880322	RCV000015417;	N	MedGen:C1855607,OMIM:245150,ORPHA:85202	12	15037154	15037154	NM_000900.3:c.87T>A	NP_000891.2:p.Tyr29Ter	NC_000012.11:g.15037154A>T	OMIM Allelic Variant:154870.0003	C1855607 245150 Keutel syndrome
NM_000900.3(MGP):c.62-2A>G	4256	MGP	Pathogenic	112518413	RCV000015416;	N	MedGen:C1855607,OMIM:245150,ORPHA:85202	12	15037181	15037181	NM_000900.3:c.62-2A>G		NC_000012.11:g.15037181T>C	OMIM Allelic Variant:154870.0002	C1855607 245150 Keutel syndrome
NM_000900.3(MGP):c.43delG (p.Val15Terfs)	4256	MGP	Pathogenic	730880321	RCV000015415;	N	MedGen:C1855607,OMIM:245150,ORPHA:85202	12	15038683	15038683	NM_000900.3:c.43delG	NP_000891.2:p.Val15Terfs	NC_000012.11:g.15038683delC	OMIM Allelic Variant:154870.0001	C1855607 245150 Keutel syndrome