MCID: FML254
MIFTS: 17

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 58
Colorectal Adenomatous Polyposis Due to Monosomy 5q22.2 58
Familial Adenomatous Polyposis Due to Monosomy 5q22.2 58
Familial Adenomatous Polyposis Due to Del(5)(q22.2) 58
Familial Polyposis Coli Due to Monosomy 5q22.2 58
Fap Due to Monosomy 5q22.2 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Developmental anomalies during embryogenesis


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, kidney and lung, 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:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenomatous colonic polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005227
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
4 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
5 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
6 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
7 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
8 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
9 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
10 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
11 duodenal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0004783
12 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
13 iron deficiency anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001891
14 dyslexia 58 31 frequent (33%) Frequent (79-30%) HP:0010522
15 thick upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000215
16 intestinal bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0002584
17 relative macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0004482
18 early balding 58 31 frequent (33%) Frequent (79-30%) HP:0002234
19 epidermoid cyst 58 31 frequent (33%) Frequent (79-30%) HP:0200040
20 congenital hypertrophy of retinal pigment epithelium 58 31 frequent (33%) Frequent (79-30%) HP:0007649
21 abnormality of canine 58 31 frequent (33%) Frequent (79-30%) HP:0011078
22 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
23 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
24 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
25 low posterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0002162
26 colon cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0003003
27 spastic gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002064
28 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
29 obstructive lung disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0006536
30 optic disc hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007766
31 desmoid tumors 58 31 occasional (7.5%) Occasional (29-5%) HP:0100245
32 posterior polar cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0001115
33 abnormality of the kidney 58 31 very rare (1%) Very rare (<4-1%) HP:0000077
34 hepatoblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002884
35 osteoma 58 31 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:

40
Colon, Kidney, Lung

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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