GALAC4
MCID: GLC115
MIFTS: 20

Galactosemia Iv (GALAC4)

Categories: Blood diseases, Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Galactosemia Iv

MalaCards integrated aliases for Galactosemia Iv:

Name: Galactosemia Iv 56 6
Galactose Mutarotase Deficiency 56 58
Galactosemia Type 4 58
Galm Deficiency 58
Galac4 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


External Ids:

OMIM 56 618881
OMIM Phenotypic Series 56 PS230400
Orphanet 58 ORPHA570422

Summaries for Galactosemia Iv

OMIM : 56 Galactosemia IV (GALAC4) is an inborn error of galactose metabolism that presents in the neonatal period. Of the 8 affected children that have thus far been reported, none had gastrointestinal symptoms or severe liver dysfunction. Two had bilateral cataracts. All had normal growth and development (summary by Wada et al., 2019). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400). (618881)

MalaCards based summary : Galactosemia Iv, also known as galactose mutarotase deficiency, is related to galactosemia i and microvascular complications of diabetes 5. An important gene associated with Galactosemia Iv is GALM (Galactose Mutarotase). Affiliated tissues include liver and eye.

Related Diseases for Galactosemia Iv

Diseases in the Galactosemia I family:

Galactosemia Ii Galactosemia Iii
Galactosemia Iv

Diseases related to Galactosemia Iv via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 galactosemia i 10.0
2 microvascular complications of diabetes 5 10.0

Symptoms & Phenotypes for Galactosemia Iv

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataracts

Laboratory Abnormalities:
elevated blood galactose-1-phosphate (in the newborn period)
elevated blood galactose (in untreated patients)
elevated liver transaminases (rare)

Abdomen Biliary Tract:
transient cholestasis (in some patients)
neonatal jaundice (rare)

Clinical features from OMIM:

618881

Drugs & Therapeutics for Galactosemia Iv

Search Clinical Trials , NIH Clinical Center for Galactosemia Iv

Genetic Tests for Galactosemia Iv

Anatomical Context for Galactosemia Iv

MalaCards organs/tissues related to Galactosemia Iv:

40
Liver, Eye

Publications for Galactosemia Iv

Articles related to Galactosemia Iv:

# Title Authors PMID Year
1
Biallelic GALM pathogenic variants cause a novel type of galactosemia. 56 6
30451973 2019
2
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants. 56
30910422 2019
3
Abnormalities of retinal metabolism in diabetes or experimental galactosemia. IV. Antioxidant defense system. 61
9013121 1997

Variations for Galactosemia Iv

ClinVar genetic disease variations for Galactosemia Iv:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GALM NM_138801.3(GALM):c.294del (p.Ile99fs)deletion Pathogenic 873020
2 GALM NM_138801.3(GALM):c.244C>T (p.Arg82Ter)SNV Pathogenic 873021
3 GALM NM_138801.3(GALM):c.799C>G (p.Arg267Gly)SNV Pathogenic 873022
4 GALM NM_138801.3(GALM):c.424G>A (p.Gly142Arg)SNV Pathogenic 873023
5 GALM NM_138801.3(GALM):c.932G>A (p.Trp311Ter)SNV Pathogenic 873024

Expression for Galactosemia Iv

Search GEO for disease gene expression data for Galactosemia Iv.

Pathways for Galactosemia Iv

GO Terms for Galactosemia Iv

Sources for Galactosemia Iv

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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