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 56 29 71
Chromosome 11p15-P14 Deletion Syndrome 56 13
Hyperinsulinism, Infantile, with Enteropathy and Deafness 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
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

More information 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 feeding difficulties in infancy 31 HP:0008872
3 renal tubular dysfunction 31 HP:0000124
4 vomiting 31 HP:0002013
5 hypoglycemia 31 HP:0001943
6 hyperinsulinemia 31 HP:0000842
7 diarrhea 31 HP:0002014
8 congenital sensorineural hearing impairment 31 HP:0008527
9 abnormal intestine morphology 31 HP:0002242
10 generalized aminoaciduria 31 HP:0002909

Symptoms via clinical synopsis from OMIM:

56
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
intractable vomiting
feeding problems
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 29

Anatomical Context for Homozygous 11p15-P14 Deletion Syndrome

Publications for Homozygous 11p15-P14 Deletion Syndrome

Articles related to Homozygous 11p15-P14 Deletion Syndrome:

# Title Authors PMID Year
1
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 56
10973248 2000
2
Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes. 61
23150283 2013

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
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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