MCID: ANL024
MIFTS: 23

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 57
Telomeric Deletion13q 59
Distal Monosomy 13q 59
Distal 13q Deletion 59
13q32 Deletion 59
Deletion 13q32 59
Monosomy 13q32 59

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 microcoria, congenital and celiac disease 1. Affiliated tissues include eye, bone and heart, and related phenotypes are ambiguous genitalia and microcephaly

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:

# Related Disease Score Top Affiliating Genes
1 microcoria, congenital 11.1
2 celiac disease 1 9.9
3 ring chromosome 13 9.9
4 vater/vacterl association 9.8
5 polydactyly 9.8
6 vacterl association 9.8

Graphical network of the top 20 diseases related to Anal Atresia, Hypospadias, and Penoscrotal Inversion:



Diseases related to Anal Atresia, Hypospadias, and Penoscrotal Inversion

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

Clinical features from OMIM:

602553

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

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
2 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
3 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
4 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
5 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
6 abnormality of the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0001163
7 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
8 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
9 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
10 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
11 anencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002323
12 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
13 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
14 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
15 aplasia/hypoplasia affecting the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0008056
16 primary adrenal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008207
17 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
18 aplasia/hypoplasia of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009601
19 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
20 urogenital fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100589
21 abnormality of the hand 59 Occasional (29-5%)
22 abnormality of the cardiac septa 59 Occasional (29-5%)
23 abnormal cardiac septum morphology 32 occasional (7.5%) HP:0001671

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:

41
Eye, Bone, Heart

Publications for Anal Atresia, Hypospadias, and Penoscrotal Inversion

Articles related to Anal Atresia, Hypospadias, and Penoscrotal Inversion:

# Title Authors Year
1
A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region. ( 23639964 )
2013
2
Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications. ( 11223849 )
2001

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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