MCID: SCR041
MIFTS: 8

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 57

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive
more likely a nonspecific syndrome due to absorption of undigested sucrose from the atonic bowel of mentally retarded


HPO:

32
sucrosuria, hiatus hernia and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 272000
MedGen 42 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:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 hiatus hernia 32 HP:0002036

Symptoms via clinical synopsis from OMIM:

57
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. 8
14423514 1960
2
Sucrosuria and mental deficiency: a coincidence. 8
14432042 1959
3
Sucrosuria in association with mental deficiency and hiatal hernia. 8
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 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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