MCID: HMZ004
MIFTS: 14

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 57 29 72
Chromosome 11p15-P14 Deletion Syndrome 57 13
Hyperinsulinism, Infantile, with Enteropathy and Deafness 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
homozygous 11p15-p14 deletion syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 606528
MedGen 42 C1847866
UMLS 72 C1847866

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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 feeding difficulties in infancy 32 HP:0008872
3 renal tubular dysfunction 32 HP:0000124
4 vomiting 32 HP:0002013
5 hypoglycemia 32 HP:0001943
6 hyperinsulinemia 32 HP:0000842
7 diarrhea 32 HP:0002014
8 congenital sensorineural hearing impairment 32 HP:0008527
9 abnormal intestine morphology 32 HP:0002242
10 generalized aminoaciduria 32 HP:0002909

Symptoms via clinical synopsis from OMIM:

57
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. 8
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. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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