MCID: SCR041
MIFTS: 9

Sucrosuria, Hiatus Hernia and Mental Retardation

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Sucrosuria, Hiatus Hernia and Mental Retardation

MalaCards integrated aliases for Sucrosuria, Hiatus Hernia and Mental Retardation:

Name: Sucrosuria, Hiatus Hernia and Mental Retardation 56

Characteristics:

OMIM:

56
Inheritance:
? autosomal recessive
more likely a nonspecific syndrome due to absorption of undigested sucrose from the atonic bowel of mentally retarded


HPO:

31
sucrosuria, hiatus hernia and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 272000
MedGen 41 C1848963

Summaries for Sucrosuria, Hiatus Hernia and Mental Retardation

MalaCards based summary : Sucrosuria, Hiatus Hernia and Mental Retardation Related phenotypes are intellectual disability and abnormality of metabolism/homeostasis

More information from OMIM: 272000

Related Diseases for Sucrosuria, Hiatus Hernia and Mental Retardation

Symptoms & Phenotypes for Sucrosuria, Hiatus Hernia and Mental Retardation

Human phenotypes related to Sucrosuria, Hiatus Hernia and Mental Retardation:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 hiatus hernia 31 HP:0002036

Symptoms via clinical synopsis from OMIM:

56
G I:
hiatus hernia

Lab:
sucrosuria

Neuro:
mental deficiency

Clinical features from OMIM:

272000

Drugs & Therapeutics for Sucrosuria, Hiatus Hernia and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Sucrosuria, Hiatus Hernia and Mental Retardation

Genetic Tests for Sucrosuria, Hiatus Hernia and Mental Retardation

Anatomical Context for Sucrosuria, Hiatus Hernia and Mental Retardation

Publications for Sucrosuria, Hiatus Hernia and Mental Retardation

Articles related to Sucrosuria, Hiatus Hernia and Mental Retardation:

# Title Authors PMID Year
1
Biochemistry of mental defect. 56
14423514 1960
2
Sucrosuria and mental deficiency: a coincidence. 56
14432042 1959
3
Sucrosuria in association with mental deficiency and hiatal hernia. 56
13492132 1958

Variations for Sucrosuria, Hiatus Hernia and Mental Retardation

Expression for Sucrosuria, Hiatus Hernia and Mental Retardation

Search GEO for disease gene expression data for Sucrosuria, Hiatus Hernia and Mental Retardation.

Pathways for Sucrosuria, Hiatus Hernia and Mental Retardation

GO Terms for Sucrosuria, Hiatus Hernia and Mental Retardation

Sources for Sucrosuria, Hiatus Hernia and Mental Retardation

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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