MCID: FML254
MIFTS: 19

Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

MalaCards integrated aliases for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion:

Name: Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 60
Colorectal Adenomatous Polyposis Due to Monosomy 5q22.2 60
Familial Adenomatous Polyposis Due to Monosomy 5q22.2 60
Familial Adenomatous Polyposis Due to Del(5)(q22.2) 60
Familial Polyposis Coli Due to Monosomy 5q22.2 60
Fap Due to Monosomy 5q22.2 60

Classifications:



Summaries for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

MalaCards based summary : Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion, is also known as colorectal adenomatous polyposis due to monosomy 5q22.2. An important gene associated with Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion is APC (APC Regulator Of WNT Signaling Pathway). Affiliated tissues include colon, lung and kidney, and related phenotypes are adenomatous colonic polyposis and hypertelorism

Related Diseases for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Symptoms & Phenotypes for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Human phenotypes related to Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenomatous colonic polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005227
2 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
3 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
4 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
5 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
6 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
7 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
8 duodenal polyposis 60 33 frequent (33%) Frequent (79-30%) HP:0004783
9 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
10 broad nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000455
11 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
12 iron deficiency anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001891
13 dyslexia 60 33 frequent (33%) Frequent (79-30%) HP:0010522
14 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
15 thick upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000215
16 intestinal bleeding 60 33 frequent (33%) Frequent (79-30%) HP:0002584
17 relative macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0004482
18 early balding 60 33 frequent (33%) Frequent (79-30%) HP:0002234
19 epidermoid cyst 60 33 frequent (33%) Frequent (79-30%) HP:0200040
20 congenital hypertrophy of retinal pigment epithelium 60 33 frequent (33%) Frequent (79-30%) HP:0007649
21 abnormality of canine 60 33 frequent (33%) Frequent (79-30%) HP:0011078
22 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
23 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
24 low posterior hairline 60 33 occasional (7.5%) Occasional (29-5%) HP:0002162
25 colon cancer 60 33 occasional (7.5%) Occasional (29-5%) HP:0003003
26 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
27 spastic gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002064
28 single transverse palmar crease 60 33 occasional (7.5%) Occasional (29-5%) HP:0000954
29 optic disc hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007766
30 desmoid tumors 60 33 occasional (7.5%) Occasional (29-5%) HP:0100245
31 posterior polar cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0001115
32 obstructive lung disease 60 33 occasional (7.5%) Occasional (29-5%) HP:0006536
33 abnormality of the kidney 60 33 very rare (1%) Very rare (<4-1%) HP:0000077
34 hepatoblastoma 60 33 very rare (1%) Very rare (<4-1%) HP:0002884
35 osteoma 60 33 very rare (1%) Very rare (<4-1%) HP:0100246

Drugs & Therapeutics for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Search Clinical Trials , NIH Clinical Center for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Genetic Tests for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Anatomical Context for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

MalaCards organs/tissues related to Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion:

42
Colon, Lung, Kidney

Publications for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Variations for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Expression for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Search GEO for disease gene expression data for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion.

Pathways for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

GO Terms for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Sources for Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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