MCID: ANL024
MIFTS: 19

Anal Atresia, Hypospadias, and Penoscrotal Inversion

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Anal Atresia, Hypospadias, and Penoscrotal Inversion

MalaCards integrated aliases for Anal Atresia, Hypospadias, and Penoscrotal Inversion:

Name: Anal Atresia, Hypospadias, and Penoscrotal Inversion 54
Telomeric Deletion13q 56
Distal Monosomy 13q 56
Distal 13q Deletion 56
13q32 Deletion 56
Deletion 13q32 56
Monosomy 13q32 56

Classifications:



Summaries for Anal Atresia, Hypospadias, and Penoscrotal Inversion

MalaCards based summary : Anal Atresia, Hypospadias, and Penoscrotal Inversion, also known as telomeric deletion13q, is related to polydactyly and vacterl association, and has symptoms including short stature, optic atrophy and cognitive impairment. Affiliated tissues include eye and bone.

Description from OMIM: 602553

Related Diseases for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Diseases related to Anal Atresia, Hypospadias, and Penoscrotal Inversion via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 polydactyly 9.8
2 vacterl association 9.8
3 celiac disease 9.8
4 ring chromosome 13 9.8

Symptoms & Phenotypes for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Clinical features from OMIM:

602553

Human phenotypes related to Anal Atresia, Hypospadias, and Penoscrotal Inversion:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
4 hypertonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001276
5 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
6 ambiguous genitalia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000062
7 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
8 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
9 anencephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002323
10 holoprosencephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001360
11 encephalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0002084
12 anal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002023
13 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
14 primary adrenal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0008207
15 abnormal form of the vertebral bodies 56 32 occasional (7.5%) Occasional (29-5%) HP:0003312
16 abnormality of the metacarpal bones 56 32 occasional (7.5%) Occasional (29-5%) HP:0001163
17 urogenital fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0100589
18 abnormality of the cardiac septa 56 32 occasional (7.5%) Occasional (29-5%) HP:0001671
19 aplasia/hypoplasia affecting the eye 56 32 occasional (7.5%) Occasional (29-5%) HP:0008056
20 aplasia/hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007370
21 aplasia/hypoplasia of the thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0009601
22 abnormality of the hand 56 Occasional (29-5%)

Drugs & Therapeutics for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Search Clinical Trials , NIH Clinical Center for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Genetic Tests for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Anatomical Context for Anal Atresia, Hypospadias, and Penoscrotal Inversion

MalaCards organs/tissues related to Anal Atresia, Hypospadias, and Penoscrotal Inversion:

39
Eye, Bone

Publications for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Variations for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Expression for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Search GEO for disease gene expression data for Anal Atresia, Hypospadias, and Penoscrotal Inversion.

Pathways for Anal Atresia, Hypospadias, and Penoscrotal Inversion

GO Terms for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Sources for Anal Atresia, Hypospadias, and Penoscrotal Inversion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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