SHPKD
MCID: SDH011
MIFTS: 26

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 57 72 29 6
Shpkd 57 72
Isolated Sedoheptulokinase Deficiency 58
Deficiency, Sedoheptulokinase 39
Isolated Shpk Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
isolated sedoheptulokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
sedoheptulokinase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Sedoheptulokinase Deficiency

UniProtKB/Swiss-Prot : 72 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 and cystinosis, adult nonnephropathic. 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® : 57 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) (Updated 20-May-2021)

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 29.4 SHPK CTNS
2 cystinosis, adult nonnephropathic 10.0
3 cystinosis, nephropathic 10.0
4 cystinosis, late-onset juvenile or adolescent nephropathic type 10.0
5 cholestasis 10.0
6 hypoglycemia 10.0
7 congenital amyoplasia 10.0

Graphical network of the top 20 diseases related to Sedoheptulokinase Deficiency:



Diseases related to Sedoheptulokinase Deficiency

Symptoms & Phenotypes for Sedoheptulokinase Deficiency

Human phenotypes related to Sedoheptulokinase Deficiency:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 58 31 obligate (100%) Obligate (100%) HP:0002804
2 neonatal asphyxia 58 31 obligate (100%) Obligate (100%) HP:0012768
3 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
4 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
5 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
8 portal hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0001409
9 hepatitis 58 31 frequent (33%) Frequent (79-30%) HP:0012115
10 cholestatic liver disease 58 31 frequent (33%) Frequent (79-30%) HP:0002611
11 abnormal renal tubule morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000091
12 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
13 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
14 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
15 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
16 diastasis recti 58 31 frequent (33%) Frequent (79-30%) HP:0001540
17 steatorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002570
18 severe postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008850
19 abnormal cns myelination 58 31 frequent (33%) Frequent (79-30%) HP:0011400
20 hypochromic microcytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0004840
21 subcortical cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012157
22 postprandial hyperglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0011998
23 shallow orbits 58 31 frequent (33%) Frequent (79-30%) HP:0000586
24 breech presentation 58 31 frequent (33%) Frequent (79-30%) HP:0001623
25 increased urinary sedoheptulose 31 very rare (1%) HP:0025157
26 flexion contracture 58 Obligate (100%)
27 anemia 58 Frequent (79-30%)
28 cholestasis 58 Frequent (79-30%)
29 abnormality of globe location 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
increased urinary sedoheptulose
increased urinary erythritol

Clinical features from OMIM®:

617213 (Updated 20-May-2021)

Drugs & Therapeutics for Sedoheptulokinase Deficiency

Search Clinical Trials , NIH Clinical Center for Sedoheptulokinase Deficiency

Genetic Tests for Sedoheptulokinase Deficiency

Genetic tests related to Sedoheptulokinase Deficiency:

# Genetic test Affiliating Genes
1 Sedoheptulokinase Deficiency 29 SHPK

Anatomical Context for Sedoheptulokinase Deficiency

MalaCards organs/tissues related to Sedoheptulokinase Deficiency:

40
Liver

Publications for Sedoheptulokinase Deficiency

Articles related to Sedoheptulokinase Deficiency:

# Title Authors PMID Year
1
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? 57 6 61
25647543 2015
2
Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency. 61
18775706 2008
3
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. 61
18186520 2008

Variations for Sedoheptulokinase Deficiency

ClinVar genetic disease variations for Sedoheptulokinase Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHPK NM_013276.3(SHPK):c.355C>T (p.Arg119Ter) SNV Affects 372202 rs144071313 GRCh37: 17:3527481-3527481
GRCh38: 17:3624187-3624187
2 SHPK NM_013276.3(SHPK):c.211G>T (p.Glu71Ter) SNV Affects 372203 rs748544120 GRCh37: 17:3533598-3533598
GRCh38: 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....