MCID: HMZ004
MIFTS: 15

Homozygous 11p15-P14 Deletion Syndrome

Categories: Ear diseases, Gastrointestinal diseases

Aliases & Classifications for Homozygous 11p15-P14 Deletion Syndrome

MalaCards integrated aliases for Homozygous 11p15-P14 Deletion Syndrome:

Name: Homozygous 11p15-P14 Deletion Syndrome 58 30 74
Chromosome 11p15-P14 Deletion Syndrome 58 13
Hyperinsulinism, Infantile, with Enteropathy and Deafness 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
homozygous 11p15-p14 deletion syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Homozygous 11p15-P14 Deletion Syndrome

MalaCards based summary : Homozygous 11p15-P14 Deletion Syndrome, is also known as chromosome 11p15-p14 deletion syndrome, and has symptoms including diarrhea and intractable vomiting. An important gene associated with Homozygous 11p15-P14 Deletion Syndrome is DEL11P15P14 (Chromosome 11p15-P14 Deletion Syndrome). Related phenotypes are failure to thrive and feeding difficulties in infancy

Description from OMIM: 606528

Related Diseases for Homozygous 11p15-P14 Deletion Syndrome

Symptoms & Phenotypes for Homozygous 11p15-P14 Deletion Syndrome

Human phenotypes related to Homozygous 11p15-P14 Deletion Syndrome:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 feeding difficulties in infancy 33 HP:0008872
3 renal tubular dysfunction 33 HP:0000124
4 vomiting 33 HP:0002013
5 hypoglycemia 33 HP:0001943
6 hyperinsulinemia 33 HP:0000842
7 diarrhea 33 HP:0002014
8 congenital sensorineural hearing impairment 33 HP:0008527
9 generalized aminoaciduria 33 HP:0002909
10 abnormal intestine morphology 33 HP:0002242

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Laboratory Abnormalities:
hypoglycemia
generalized aminoaciduria
homozygous 122kb deletion 11p15-p14

Endocrine Features:
hyperinsulinism

Genitourinary Kidneys:
renal tubular dysfunction

Abdomen Gastrointestinal:
diarrhea
feeding problems
intractable vomiting
enteropathy
small bowel biopsy shows crypt hyperplastic villus atrophy, inflammatory infiltrate within the lamina propria, and disorganized surface epithelium

Head And Neck Ears:
hearing loss, profound congenital sensorineural

Clinical features from OMIM:

606528

UMLS symptoms related to Homozygous 11p15-P14 Deletion Syndrome:


diarrhea, intractable vomiting

Drugs & Therapeutics for Homozygous 11p15-P14 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Homozygous 11p15-P14 Deletion Syndrome

Genetic Tests for Homozygous 11p15-P14 Deletion Syndrome

Genetic tests related to Homozygous 11p15-P14 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Homozygous 11p15-P14 Deletion Syndrome 30

Anatomical Context for Homozygous 11p15-P14 Deletion Syndrome

Publications for Homozygous 11p15-P14 Deletion Syndrome

Variations for Homozygous 11p15-P14 Deletion Syndrome

Expression for Homozygous 11p15-P14 Deletion Syndrome

Search GEO for disease gene expression data for Homozygous 11p15-P14 Deletion Syndrome.

Pathways for Homozygous 11p15-P14 Deletion Syndrome

GO Terms for Homozygous 11p15-P14 Deletion Syndrome

Sources for Homozygous 11p15-P14 Deletion Syndrome

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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