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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: Smith-Magenis Syndrome (D058496)
..Starting node ..Potocki-Lupski syndrome (C538355)
Child Nodes:
Sister Nodes:
..Potocki-Lupski syndrome (C538355)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9188

Name:

Potocki-Lupski syndrome

Definition:

Alternative IDs:

OMIM:610883

ParentIDs:

MESH:D058496

TreeNumbers:

C10.281.900/C538355 |C16.131.077.879/C538355 |C16.131.260.887/C538355 |C16.320.180.887/C538355

Synonyms:

Chromosome 17p11.2 Duplication Syndrome |Duplication 17p11.2 syndrome |Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) |PTLS

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C538355
MeSH: C538355
OMIM: 610883;

Genes: AF8T;

Phenotypes

1	HP:0012210	Abnormal renal morphology
2	HP:0001626	Abnormality of the cardiovascular system
3	HP:0000717	Autism
4	HP:0000337	Broad forehead
5	HP:0012448	Delayed myelination
6	HP:0000678	Dental crowding
7	HP:0000689	Dental malocclusion
8	HP:0000494	Downslanted palpebral fissures
9	HP:0002357	Dysphasia
10	HP:0010529	Echolalia
11	HP:0002353	EEG abnormality
12	HP:0002474	Expressive language delay
13	HP:0001508	Failure to thrive
14	HP:0008872	Feeding difficulties in infancy
15	HP:0002020	Gastroesophageal reflux
16	HP:0001290	Generalized hypotonia
17	HP:0001263	Global developmental delay
18	HP:0000365	Hearing impairment
19	HP:0000218	High palate
20	HP:0000752	Hyperactivity
21	HP:0000540	Hypermetropia
22	HP:0000316	Hypertelorism
23	HP:0003146	Hypocholesterolemia
24	HP:0002079	Hypoplasia of the corpus callosum
25	HP:0000821	Hypothyroidism	HP:0040283
26	HP:0001256	Intellectual disability, mild
27	HP:0002463	Language impairment
28	HP:0000303	Mandibular prognathia
29	HP:0000252	Microcephaly
30	HP:0000347	Micrognathia
31	HP:0200136	Oral-pharyngeal dysphagia
32	HP:0001655	Patent foramen ovale
33	HP:0003812	Phenotypic variability
34	HP:0000817	Poor eye contact
35	HP:0005274	Prominent nasal tip
36	HP:0010863	Receptive language delay
37	HP:0002650	Scoliosis
38	HP:0001250	Seizure
39	HP:0004322	Short stature
40	HP:0010535	Sleep apnea
41	HP:0001518	Small for gestational age
42	HP:0000319	Smooth philtrum
43	HP:0003745	Sporadic
44	HP:0000733	Stereotypy
45	HP:0000325	Triangular face
46	HP:0000243	Trigonocephaly
47	HP:0000154	Wide mouth

Disease Causing ClinVar Variants