SHPKD
MCID: SDH011
MIFTS: 25

Sedoheptulokinase Deficiency (SHPKD)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Sedoheptulokinase Deficiency

MalaCards integrated aliases for Sedoheptulokinase Deficiency:

Name: Sedoheptulokinase Deficiency 58 76 6
Shpkd 58 76
Isolated Sedoheptulokinase Deficiency 60
Deficiency, Sedoheptulokinase 41
Isolated Shpk Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
isolated sedoheptulokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients, both born of consanguineous parents, have been reported (last curated november 2016)
the patients had different multisystem manifestations, including delayed psychomotor development and dysmorphic features, but the relationship of these features to the shpk deficiency is unclear


HPO:

33
sedoheptulokinase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Sedoheptulokinase Deficiency

UniProtKB/Swiss-Prot : 76 Sedoheptulokinase deficiency: An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear.

MalaCards based summary : Sedoheptulokinase Deficiency, also known as shpkd, is related to cystinosis, adult nonnephropathic and cystinosis, nephropathic. An important gene associated with Sedoheptulokinase Deficiency is SHPK (Sedoheptulokinase). Affiliated tissues include liver, and related phenotypes are arthrogryposis multiplex congenita and neonatal asphyxia

OMIM : 58 SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015). (617213)

Related Diseases for Sedoheptulokinase Deficiency

Diseases related to Sedoheptulokinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cystinosis, adult nonnephropathic 10.1
2 cystinosis, nephropathic 10.1
3 cystinosis, late-onset juvenile or adolescent nephropathic type 10.1
4 cystinosis 10.1

Symptoms & Phenotypes for Sedoheptulokinase Deficiency

Human phenotypes related to Sedoheptulokinase Deficiency:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 60 33 obligate (100%) Obligate (100%) HP:0002804
2 neonatal asphyxia 60 33 obligate (100%) Obligate (100%) HP:0012768
3 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
4 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
5 hip dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001385
6 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
7 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
8 portal hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0001409
9 hepatitis 60 33 frequent (33%) Frequent (79-30%) HP:0012115
10 cholestatic liver disease 60 33 frequent (33%) Frequent (79-30%) HP:0002611
11 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
12 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
13 large fontanelles 60 33 frequent (33%) Frequent (79-30%) HP:0000239
14 hypotelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000601
15 postprandial hyperglycemia 60 33 frequent (33%) Frequent (79-30%) HP:0011998
16 diastasis recti 60 33 frequent (33%) Frequent (79-30%) HP:0001540
17 breech presentation 60 33 frequent (33%) Frequent (79-30%) HP:0001623
18 severe postnatal growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0008850
19 hypochromic microcytic anemia 60 33 frequent (33%) Frequent (79-30%) HP:0004840
20 steatorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002570
21 subcortical cerebral atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012157
22 shallow orbits 60 33 frequent (33%) Frequent (79-30%) HP:0000586
23 abnormal cns myelination 60 33 frequent (33%) Frequent (79-30%) HP:0011400
24 abnormal renal tubule morphology 33 frequent (33%) HP:0000091
25 increased urinary sedoheptulose 33 very rare (1%) HP:0025157
26 flexion contracture 60 Obligate (100%)
27 anemia 60 Frequent (79-30%)
28 abnormality of the renal tubule 60 Frequent (79-30%)
29 cholestasis 60 Frequent (79-30%)
30 abnormality of globe location 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
increased urinary erythritol
increased urinary sedoheptulose

Clinical features from OMIM:

617213

Drugs & Therapeutics for Sedoheptulokinase Deficiency

Search Clinical Trials , NIH Clinical Center for Sedoheptulokinase Deficiency

Genetic Tests for Sedoheptulokinase Deficiency

Anatomical Context for Sedoheptulokinase Deficiency

MalaCards organs/tissues related to Sedoheptulokinase Deficiency:

42
Liver

Publications for Sedoheptulokinase Deficiency

Articles related to Sedoheptulokinase Deficiency:

# Title Authors Year
1
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? ( 25647543 )
2015
2
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. ( 18186520 )
2008
3
Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency. ( 18775706 )
2008

Variations for Sedoheptulokinase Deficiency

ClinVar genetic disease variations for Sedoheptulokinase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SHPK NM_013276.2(SHPK): c.355C> T (p.Arg119Ter) single nucleotide variant Affects rs144071313 GRCh37 Chromosome 17, 3527481: 3527481
2 SHPK NM_013276.2(SHPK): c.355C> T (p.Arg119Ter) single nucleotide variant Affects rs144071313 GRCh38 Chromosome 17, 3624187: 3624187
3 SHPK NM_013276.2(SHPK): c.211G> T (p.Glu71Ter) single nucleotide variant Affects rs748544120 GRCh37 Chromosome 17, 3533598: 3533598
4 SHPK NM_013276.2(SHPK): c.211G> T (p.Glu71Ter) single nucleotide variant Affects rs748544120 GRCh38 Chromosome 17, 3630304: 3630304

Expression for Sedoheptulokinase Deficiency

Search GEO for disease gene expression data for Sedoheptulokinase Deficiency.

Pathways for Sedoheptulokinase Deficiency

GO Terms for Sedoheptulokinase Deficiency

Sources for Sedoheptulokinase Deficiency

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