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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: Chromosome Deletion (D002872)
Parent Node: Chromosome Disorders (D025063)
..Starting node ..Telomeric 22q13 Monosomy Syndrome (C536801)
Child Nodes:
Sister Nodes:
..10p Deletion Syndrome (Partial) (C538288)
..13q deletion syndrome (C535484) 1
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..22q11 Deletion Syndrome (D058165) 5
..6q+ Syndrome, Partial (C537810)
..7p2 monosomy syndrome (C537818)
..9q22.3 Microdeletion (C579873)
..Angelman Syndrome (D017204) 1
..Beckwith-Wiedemann Syndrome (D001506) 1
..Branchio-Oto-Renal Syndrome (D019280) 5
..Chromosome 10q duplication syndrome (C537804)
..Chromosome 13q-mosaicism (C535486)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Chromosome 18 deletion syndrome (C536580)
..Chromosome 18p deletion syndrome (C538309)
..Chromosome 19q13.11 Deletion Syndrome (C567810)
..Chromosome 1p36 Deletion Syndrome (C535362)
..Chromosome 22, monosome mosaic (C536798)
..Chromosome 3 duplication syndrome (C536803)
..Chromosome 3q29 Duplication Syndrome (C567626)
..Chromosome 4, 4q Terminal Deletion Syndrome (C537641)
..Chromosome 4q- Syndrome (C537639)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Chromosome 6 ring syndrome (C537763)
..Chromosome 7 ring syndrome (C537813)
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..Cri-du-Chat Syndrome (D003410) 6
..De Lange Syndrome (D003635) 1
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Deletion 13q syndrome, partial (C535449)
..Distal Trisomy 10q Syndrome (C538087)
..Down Syndrome (D004314) 6
..Duplication 4p Syndrome (C537643)
..Edinburgh Malformation Syndrome (C563051)
..Emanuel syndrome (C535733)
..Fragile Site 16p12 (C565001)
..Holoprosencephaly (D016142) 22
..Isodicentric Chromosome 15 Syndrome (C580205)
..Jacobsen Distal 11q Deletion Syndrome (D054868) 1
..Mental Retardation, Fra12a Type (C566980)
..Monosomy 7 of Bone Marrow (C565370)
..Mosaic variegated aneuploidy syndrome (C536987)
..NF1 Microduplication Syndrome (C567173)
..Otodental Dysplasia (C563482)
..Pallister Killian syndrome (C538105)
..Partial Duplication 15q Syndrome (C538036)
..Partial Trisomy 3q Syndrome (C537635)
..Patau syndrome (C536305)
..Potocki-Shaffer syndrome (C538356)
..Prader-Willi Syndrome (D011218) 2
..Recombinant chromosome 8 syndrome (C535296)
..Ring chromosome 4 syndrome (C537636)
..Rubinstein-Taybi Syndrome (D012415) 2
..Schmid-Fraccaro syndrome (C535918)
..Sex Chromosome Disorders (D025064) 32
..Silver-Russell Syndrome (D056730) 1
..Smith-Magenis Syndrome (D058496) 1
..Sotos Syndrome (D058495) 1
..Telomeric 22q13 Monosomy Syndrome (C536801)
..Thrombocytopenia chromosome breakage (C536519)
..Trisomy 18-Like Syndrome (C563382)
..Trisomy 22 mosaicism syndrome (C536796)
..WAGR Syndrome (D017624) 2
..Warburton Anyane Yeboa syndrome (C536682)
..Williams Syndrome (D018980) 1
..Wolf-Hirschhorn Syndrome (D054877)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10907

Name:

Telomeric 22q13 Monosomy Syndrome

Definition:

Alternative IDs:

OMIM:606232

ParentIDs:

MESH:D002872|MESH:D025063

TreeNumbers:

C16.131.260/C536801 |C16.320.180/C536801 |C23.550.210.050.500.500/C536801

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Pathology (process)

Reference:

MedGen: C536801
MeSH: C536801
OMIM: 606232;

Genes: SHANK3;

Phenotypes

1	HP:0004691	2-3 toe syndactyly	HP:0040282
2	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283
3	HP:0000164	Abnormality of the dentition
4	HP:0000718	Aggressive behavior	HP:0040284
5	HP:0100702	Arachnoid cyst	HP:0040284
6	HP:0000717	Autism	HP:0040282
7	HP:0002136	Broad-based gait	HP:0040282
8	HP:0003763	Bruxism	HP:0040282
9	HP:0000414	Bulbous nose	HP:0040282
10	HP:0100658	Cellulitis	HP:0040284
11	HP:0100704	Cerebral visual impairment	HP:0040284
12	HP:0004209	Clinodactyly of the 5th finger	HP:0040282
13	HP:0011120	Concave nasal ridge
14	HP:0000490	Deeply set eye	HP:0040282
15	HP:0002188	Delayed CNS myelination	HP:0040283
16	HP:0000750	Delayed speech and language development	HP:0040281
17	HP:0000689	Dental malocclusion	HP:0040282
18	HP:0000268	Dolichocephaly	HP:0040282
19	HP:0000286	Epicanthus	HP:0040282
20	HP:0002572	Episodic vomiting	HP:0040282
21	HP:0011968	Feeding difficulties
22	HP:0000293	Full cheeks	HP:0040282
23	HP:0002020	Gastroesophageal reflux	HP:0040282
24	HP:0001290	Generalized hypotonia
25	HP:0001263	Global developmental delay	HP:0040284
26	HP:0000365	Hearing impairment	HP:0040284
27	HP:0002046	Heat intolerance	HP:0040282
28	HP:0000218	High palate	HP:0040282
29	HP:0000710	Hyperorality	HP:0040282
30	HP:0000966	Hypohidrosis	HP:0040282
31	HP:0001800	Hypoplastic toenails	HP:0040282
32	HP:0001265	Hyporeflexia
33	HP:0007328	Impaired pain sensation	HP:0040282
34	HP:0002342	Intellectual disability, moderate
35	HP:0001176	Large hands	HP:0040282
36	HP:0000527	Long eyelashes	HP:0040282
37	HP:0000343	Long philtrum	HP:0040282
38	HP:0001004	Lymphedema	HP:0040282
39	HP:0000256	Macrocephaly
40	HP:0000400	Macrotia	HP:0040282
41	HP:0000272	Malar flattening	HP:0040282
42	HP:0000252	Microcephaly	HP:0040284
43	HP:0001270	Motor delay
44	HP:0001319	Neonatal hypotonia	HP:0040281
45	HP:0100540	Palpebral edema	HP:0040282
46	HP:0001643	Patent ductus arteriosus	HP:0040283
47	HP:0000307	Pointed chin	HP:0040282
48	HP:0000113	Polycystic kidney dysplasia	HP:0040283
49	HP:0000817	Poor eye contact	HP:0040282
50	HP:0000336	Prominent supraorbital ridges
51	HP:0000411	Protruding ear
52	HP:0000508	Ptosis	HP:0040282
53	HP:0000960	Sacral dimple	HP:0040282
54	HP:0001250	Seizure	HP:0040282
55	HP:0000331	Short chin
56	HP:0003745	Sporadic
57	HP:0000486	Strabismus	HP:0040282
58	HP:0000098	Tall stature	HP:0040281
59	HP:0000574	Thick eyebrow	HP:0040282
60	HP:0100797	Toenail dysplasia
61	HP:0100703	Tongue thrusting	HP:0040284
62	HP:0002317	Unsteady gait	HP:0040282
63	HP:0001629	Ventricular septal defect	HP:0040283
64	HP:0002119	Ventriculomegaly	HP:0040283
65	HP:0000076	Vesicoureteral reflux	HP:0040283
66	HP:0000431	Wide nasal bridge	HP:0040282

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_033517.1(SHANK3):c.317A>C (p.Gln106Pro)	85358	SHANK3	Uncertain significance	794729646	RCV000185554;	N	MedGen:C1853490,OMIM:606232,ORPHA:48652	22	51115099	51115099	NM_033517.1:c.317A>C	NP_277052.1:p.Gln106Pro	NC_000022.10:g.51115099A>C	-	C1853490 606232 22q13.3 deletion syndrome
NM_033517.1(SHANK3):c.421C>G (p.Pro141Ala)	85358	SHANK3	Pathogenic	397514705	RCV000043655;	N	MedGen:C1853490,OMIM:606232,ORPHA:48652	22	51117094	51117094	NM_033517.1:c.421C>G	NP_277052.1:p.Pro141Ala	NC_000022.10:g.51117094C>G	OMIM Allelic Variant:606230.0006	C1853490 606232 22q13.3 deletion syndrome
NM_033517.1(SHANK3):c.815A>G (p.Tyr272Cys)	85358	SHANK3	Uncertain significance	794729647	RCV000185555;	N	MedGen:C1853490,OMIM:606232,ORPHA:48652	22	51117786	51117786	NM_033517.1:c.815A>G	NP_277052.1:p.Tyr272Cys	NC_000022.10:g.51117786A>G	-	C1853490 606232 22q13.3 deletion syndrome
NM_033517.1(SHANK3):c.1010C>G (p.Thr337Ser)	85358	SHANK3	Uncertain significance	869312715	RCV000209888;	N	MedGen:C1853490,OMIM:606232,ORPHA:48652	22	51123059	51123059	NM_033517.1:c.1010C>G	NP_277052.1:p.Thr337Ser	NC_000022.10:g.51123059C>G	-	C1853490 606232 22q13.3 deletion syndrome