MCID: SDH011
MIFTS: 23

Sedoheptulokinase Deficiency

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sedoheptulokinase Deficiency

MalaCards integrated aliases for Sedoheptulokinase Deficiency:

Name: Sedoheptulokinase Deficiency 57 75 6
Shpkd 57 75
Isolated Sedoheptulokinase Deficiency 59
Deficiency, Sedoheptulokinase 40
Isolated Shpk Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
isolated sedoheptulokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
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:

32
sedoheptulokinase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Sedoheptulokinase Deficiency

UniProtKB/Swiss-Prot : 75 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. 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)

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 10.0

Symptoms & Phenotypes for Sedoheptulokinase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
increased urinary erythritol
increased urinary sedoheptulose


Clinical features from OMIM:

617213

Human phenotypes related to Sedoheptulokinase Deficiency:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 59 32 obligate (100%) Obligate (100%) HP:0002804
2 neonatal asphyxia 59 32 obligate (100%) Obligate (100%) HP:0012768
3 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
4 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
5 abnormality of the renal tubule 59 32 frequent (33%) Frequent (79-30%) HP:0000091
6 large fontanelles 59 32 frequent (33%) Frequent (79-30%) HP:0000239
7 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
8 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
9 shallow orbits 59 32 frequent (33%) Frequent (79-30%) HP:0000586
10 hypotelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000601
11 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
12 portal hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0001409
13 diastasis recti 59 32 frequent (33%) Frequent (79-30%) HP:0001540
14 breech presentation 59 32 frequent (33%) Frequent (79-30%) HP:0001623
15 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
16 steatorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002570
17 cholestatic liver disease 59 32 frequent (33%) Frequent (79-30%) HP:0002611
18 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
19 hypochromic microcytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0004840
20 severe postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008850
21 abnormal cns myelination 59 32 frequent (33%) Frequent (79-30%) HP:0011400
22 postprandial hyperglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0011998
23 hepatitis 59 32 frequent (33%) Frequent (79-30%) HP:0012115
24 subcortical cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012157
25 flexion contracture 59 Obligate (100%)
26 cholestasis 59 Frequent (79-30%)
27 anemia 59 Frequent (79-30%)
28 abnormality of globe location 59 Frequent (79-30%)
29 increased urinary sedoheptulose 32 very rare (1%) HP:0025157

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:

41
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....