MCID: HLC001
MIFTS: 59

Holocarboxylase Synthetase Deficiency

Categories: Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Holocarboxylase Synthetase Deficiency

MalaCards integrated aliases for Holocarboxylase Synthetase Deficiency:

Name: Holocarboxylase Synthetase Deficiency 53 12 72 49 24 55 71 36 28 13 51 41 14 69
Early-Onset Multiple Carboxylase Deficiency 49 55 71
Hlcs Deficiency 53 24 71
Multiple Carboxylase Deficiency, Neonatal Form 53 24
Neonatal Multiple Carboxylase Deficiency 49 55
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency 24
Biotin-Responsive Multiple Carboxylase Deficiencies 28
Biotin-Responsive Multiple Carboxylase Deficiency 71
Multiple Carboxylase Deficiency - Neonatal Onset 12
Multiple Carboxylase Deficiency, Early Onset 53
Early-Onset Combined Carboxylase Deficiency 24
Infantile Multiple Carboxylase Deficiency 24
Biotin- Ligase Deficiency 12
Holocarboxylase Synthetase 13
Biotin-Responsive Mcd 71
Mcd Neonatal Form 71
Early-Onset Mcd 71

Characteristics:

Orphanet epidemiological data:

55
holocarboxylase synthetase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
age of onset - birth to 15 months


HPO:

31
holocarboxylase synthetase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Holocarboxylase Synthetase Deficiency

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79242Disease definitionHolocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.EpidemiologyThe exact prevalence of HCSD is unknown, but the condition is one of the rarest inborn errors of metabolism. Annual incidence is estimated to be less than 1/200,000 live births.Clinical descriptionClinical onset is usually within hours, days or weeks of birth. Individuals with the disorder usually exhibit poor appetite, vomiting, lethargy, irritability, hypotonia and exfoliative dermatitis. Metabolically, they have ketolactic acidosis, organic acidemia (-uria) and hyperammonemia. Without treatment, affected infants may progress to intractable seizures, cerebral edema and coma. These children often develop growth and developmental delays.EtiologyHolocarboxylase synthetase deficiency is caused by mutations in the HLCS gene (21q22.1) resulting in reduced HCS activity. This enzyme is important in covalent binding of biotin to the various biotin-dependent carboxylases that require the vitamin for activity. Failure to attach the biotin results in multiple carboxylase deficiency and accumulation of various, specific abnormal organic acids.Diagnostic methodsSome affected individuals are identified through newborn screening by demonstration of abnormal organic acids, consistent with multiple carboxyalse deficiency. Diagnosis is based on clinical signs and typical organic acid abnormalities. Confirmational testing can be performed by demonstrating deficient HCS activity in leukocytes or fibroblast extracts or by mutation analysis.Differential diagnosisConditions to be considered in the differential diagnosis based on organic acids include biotinidase deficiency (see this term) and isolated carboxyalse deficiencies; based on hyperammonemia, include urea cycle defects (see this term); and based on neurological compromise and seizures in the neonatal period, include sepsis and other inborn errors of metabolism.Antenatal diagnosisPrenatal diagnosis can be performed by organic acid analysis by stable isotope dilution techniques in amniotic fluid, enzymatic determination of HCS activity in amniocytes, or mutation analysis on DNA from chorionic villus biopsy or amniocentesis.Genetic counselingHCS deficiency is inherited as an autosomal recessivetrait. Genetic counseling is available to families who have children with the disorder. Siblings of affected children are unlikely to have the disorder or they would have developed symptoms, but they may be carriers.Management and treatmentThe primary treatment for HCS deficiency is free biotin supplementation which can improve the clinical status of symptomatic individuals with the enzyme deficiency and prevent some or all symptoms from developing in asymptomatic individuals with the disorder. Treatment should be started as soon as possible after diagnosis and must be continued lifelong. Affected individuals should be monitored for later-onset complications and for compliance with therapy. Timely and ongoing treatment makes it possible to reduce symptoms considerably, although some patients develop complications despite appropriate treatment often requiring higher doses of biotin.PrognosisIn the absence of early diagnosis and treatment, mortality is high. Morbidity in surviving affected individuals depends on the time of diagnosis and on the degree of damage related to metabolic crises.Visit the Orphanet disease page for more resources. Last updated: 7/5/2011

MalaCards based summary : Holocarboxylase Synthetase Deficiency, also known as early-onset multiple carboxylase deficiency, is related to multiple carboxylase deficiency and biotinidase deficiency, and has symptoms including ataxia, seizures and respiratory distress. An important gene associated with Holocarboxylase Synthetase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways/superpathways are Biotin metabolism and Metabolism. The drugs Biotin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include testes and skin, and related phenotypes are homeostasis/metabolism and cardiovascular system

OMIM : 53 Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency (MCD), is characterized by metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis. Most patients present in the newborn or early infantile period, but some become symptomatic in the later infantile period (summary by Suzuki et al., 2005). Also see biotinidase deficiency (253260), another form of MCD with a later onset. Care must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin (Sweetman et al., 1981) or prolonged parenteral alimentation without supplemental biotin (Mock et al., 1981). (253270)

UniProtKB/Swiss-Prot : 71 Holocarboxylase synthetase deficiency: A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin.

Genetics Home Reference : 24 Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.

Disease Ontology : 12 A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.

Wikipedia : 72 Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to... more...

Related Diseases for Holocarboxylase Synthetase Deficiency

Graphical network of the top 20 diseases related to Holocarboxylase Synthetase Deficiency:



Diseases related to Holocarboxylase Synthetase Deficiency

Symptoms & Phenotypes for Holocarboxylase Synthetase Deficiency

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
lethargy
hypertonia
irritability
coma
more
Skin Nails Hair Hair:
alopecia

Skin Nails Hair Skin:
skin rash

Respiratory:
tachypnea
hyperventilation

Abdomen Gastroin testinal:
vomiting
feeding problems

Hematology:
thrombocytopenia

Metabolic Features:
metabolic acidosis
organic aciduria

Laboratory Abnormalities:
organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine)
mild-moderate hyperammonemia
holocarboxylase synthetase deficiency
normal serum biotin concentration


Clinical features from OMIM:

253270

Human phenotypes related to Holocarboxylase Synthetase Deficiency:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
2 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 respiratory distress 55 31 frequent (33%) Frequent (79-30%) HP:0002098
4 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
5 lethargy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001254
6 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
7 irritability 55 31 hallmark (90%) Very frequent (99-80%) HP:0000737
8 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
9 growth delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001510
10 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
11 thrombocytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001873
12 anorexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002039
13 coma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001259
14 hyperammonemia 55 31 frequent (33%) Frequent (79-30%) HP:0001987
15 tachypnea 55 31 frequent (33%) Frequent (79-30%) HP:0002789
16 keratoconjunctivitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001096
17 organic aciduria 55 31 frequent (33%) Frequent (79-30%) HP:0001992
18 desquamation of skin soon after birth 55 31 occasional (7.5%) Occasional (29-5%) HP:0007549
19 perioral eczema 55 31 hallmark (90%) Very frequent (99-80%) HP:0011127
20 vomiting 31 HP:0002013
21 global developmental delay 31 HP:0001263
22 hypertonia 31 HP:0001276
23 feeding difficulties in infancy 31 HP:0008872
24 skin rash 31 HP:0000988
25 eczema 55 Occasional (29-5%)
26 metabolic acidosis 31 HP:0001942
27 generalized hypotonia 31 HP:0001290
28 hyperventilation 31 HP:0002883

UMLS symptoms related to Holocarboxylase Synthetase Deficiency:


vomiting, seizures, lethargy, exanthema

MGI Mouse Phenotypes related to Holocarboxylase Synthetase Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.96 ACADL AGL BTD HADH HMGCL MTHFR
2 cardiovascular system MP:0005385 9.87 ACADL HMGCL LMBRD1 MUT PC PTS
3 mortality/aging MP:0010768 9.65 ACADL AGL HMGCL LMBRD1 MTHFR MUT
4 liver/biliary system MP:0005370 9.63 HMGCL MUT SLC25A13 SLC25A20 ACADL AGL
5 renal/urinary system MP:0005367 9.1 ACADL BTD HADH MUT SLC25A13 SLC25A20

Drugs & Therapeutics for Holocarboxylase Synthetase Deficiency

Drugs for Holocarboxylase Synthetase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
2
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3 Micronutrients
4 Trace Elements
5 Vitamin B Complex
6 Vitamins
7 Folate Nutraceutical
8 Vitamin B7 Nutraceutical
9 Vitamin B9 Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
2 Biotin Status in Pregnancy Completed NCT00894920
3 Biotin Deficiency and Restless Legs Syndrome Completed NCT02011191
4 BIOtinidase Test In Optic-Neuropathy Recruiting NCT03268681

Search NIH Clinical Center for Holocarboxylase Synthetase Deficiency

Cochrane evidence based reviews: holocarboxylase synthetase deficiency

Genetic Tests for Holocarboxylase Synthetase Deficiency

Genetic tests related to Holocarboxylase Synthetase Deficiency:

# Genetic test Affiliating Genes
1 Holocarboxylase Synthetase Deficiency 28 HLCS
2 Biotin-Responsive Multiple Carboxylase Deficiencies 28

Anatomical Context for Holocarboxylase Synthetase Deficiency

MalaCards organs/tissues related to Holocarboxylase Synthetase Deficiency:

38
Testes, Skin

Publications for Holocarboxylase Synthetase Deficiency

Articles related to Holocarboxylase Synthetase Deficiency:

(show all 49)
# Title Authors Year
1
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. ( 26754537 )
2016
2
Holocarboxylase synthetase deficiency pre and post newborn screening. ( 27114915 )
2016
3
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency. ( 27518780 )
2016
4
Severe neonatal holocarboxylase synthetase deficiency in west african siblings. ( 25690727 )
2015
5
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. ( 24085707 )
2013
6
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient. ( 21874615 )
2012
7
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. ( 21894551 )
2012
8
Holocarboxylase synthetase deficiency: novel clinical and molecular findings. ( 20095979 )
2010
9
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. ( 19201116 )
2009
10
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. ( 19357990 )
2009
11
Management of a patient with holocarboxylase synthetase deficiency. ( 18974016 )
2008
12
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency. ( 18442489 )
2008
13
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands. ( 17417720 )
2007
14
Susceptibility to heat stress and aberrant gene expression patterns in holocarboxylase synthetase-deficient Drosophila melanogaster are caused by decreased biotinylation of histones, not of carboxylases. ( 17374649 )
2007
15
Holocarboxylase synthetase deficiency: report of one case. ( 17407983 )
2006
16
Holocarboxylase synthetase deficiency presenting as ichthyosis. ( 16650223 )
2006
17
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]. ( 16494802 )
2006
18
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates. ( 16027709 )
2005
19
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. ( 16231399 )
2005
20
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. ( 12855220 )
2003
21
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. ( 12633764 )
2003
22
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. ( 12124727 )
2002
23
[Holocarboxylase synthetase deficiency]. ( 11462701 )
2001
24
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. ( 11735028 )
2001
25
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations. ( 11185745 )
2000
26
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis. ( 11196112 )
2000
27
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation. ( 10770035 )
2000
28
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency. ( 10653324 )
2000
29
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy. ( 10234606 )
1999
30
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. ( 10190325 )
1999
31
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. ( 10437643 )
1999
32
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. ( 10215065 )
1999
33
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency. ( 10590022 )
1999
34
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. ( 9686819 )
1998
35
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency. ( 9870216 )
1998
36
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. ( 9645047 )
1998
37
Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency. ( 9758715 )
1998
38
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency. ( 9183268 )
1997
39
Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate. ( 8814349 )
1996
40
Late-onset holocarboxylase synthetase deficiency. ( 8982946 )
1996
41
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. ( 8541348 )
1995
42
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy. ( 8006369 )
1994
43
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. ( 8319716 )
1993
44
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. ( 2515372 )
1989
45
A new case of holocarboxylase synthetase deficiency. ( 2515377 )
1989
46
Biotin holocarboxylase synthetase deficiency. ( 3860175 )
1985
47
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. ( 6811711 )
1982
48
Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency. ( 7226522 )
1981
49
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. ( 7365583 )
1980

Variations for Holocarboxylase Synthetase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Holocarboxylase Synthetase Deficiency:

71 (show all 23)
# Symbol AA change Variation ID SNP ID
1 HLCS p.Leu237Pro VAR_005084 rs119103227
2 HLCS p.Val333Glu VAR_009196
3 HLCS p.Thr462Ile VAR_009197
4 HLCS p.Val550Met VAR_009198 rs119103231
5 HLCS p.Asp571Asn VAR_009199 rs119103228
6 HLCS p.Gly581Ser VAR_009200 rs119103230
7 HLCS p.Arg508Trp VAR_013009 rs119103229
8 HLCS p.Leu216Arg VAR_021218 rs28934602
9 HLCS p.Asn511Lys VAR_021219
10 HLCS p.Gly582Arg VAR_021220 rs376899782
11 HLCS p.Arg183Pro VAR_046507
12 HLCS p.Arg360Ser VAR_046508
13 HLCS p.Val363Asp VAR_046509 rs769499327
14 HLCS p.Tyr456Cys VAR_046510 rs781603756
15 HLCS p.Leu470Ser VAR_046511
16 HLCS p.Gly518Glu VAR_046512
17 HLCS p.Val547Gly VAR_046513
18 HLCS p.Asp615Tyr VAR_046514
19 HLCS p.Asp634Asn VAR_046515 rs149399432
20 HLCS p.Asp634Tyr VAR_046516
21 HLCS p.Asp715Gly VAR_046517
22 HLCS p.Gly241Trp VAR_073074
23 HLCS p.Gly505Arg VAR_073075

ClinVar genetic disease variations for Holocarboxylase Synthetase Deficiency:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 HLCS NM_000411.7(HLCS): c.1624C> T (p.Gln542Ter) single nucleotide variant Pathogenic rs794727957 GRCh37 Chromosome 21, 38137369: 38137369
2 HLCS HLCS, 1-BP DEL, 780G deletion Pathogenic
3 HLCS NM_000411.6(HLCS): c.710T> C (p.Leu237Pro) single nucleotide variant Pathogenic/Likely pathogenic rs119103227 GRCh37 Chromosome 21, 38309035: 38309035
4 HLCS NM_000411.6(HLCS): c.1711G> A (p.Asp571Asn) single nucleotide variant Pathogenic rs119103228 GRCh37 Chromosome 21, 38132112: 38132112
5 HLCS NM_000411.6(HLCS): c.1522C> T (p.Arg508Trp) single nucleotide variant Pathogenic rs119103229 GRCh37 Chromosome 21, 38137471: 38137471
6 HLCS NM_000411.6(HLCS): c.1741G> A (p.Gly581Ser) single nucleotide variant Pathogenic rs119103230 GRCh37 Chromosome 21, 38132082: 38132082
7 HLCS NM_000411.6(HLCS): c.1648G> A (p.Val550Met) single nucleotide variant Pathogenic rs119103231 GRCh37 Chromosome 21, 38137345: 38137345
8 HLCS NM_000411.7(HLCS): c.1519+5G> A single nucleotide variant Pathogenic rs753887925 GRCh38 Chromosome 21, 36767213: 36767213
9 HLCS NM_000411.7(HLCS): c.655dup (p.Ile219Asnfs) duplication Pathogenic rs773102942 GRCh37 Chromosome 21, 38309090: 38309090
10 HLCS NM_000411.6(HLCS): c.647T> G (p.Leu216Arg) single nucleotide variant Pathogenic rs28934602 GRCh37 Chromosome 21, 38309098: 38309098
11 HLCS NM_000411.6(HLCS): c.782delG (p.Gly261Valfs) deletion Pathogenic rs771944310 GRCh38 Chromosome 21, 36936663: 36936663
12 HLCS NM_000411.6(HLCS): c.722G> C (p.Gly241Ala) single nucleotide variant Likely pathogenic rs1057516035 GRCh37 Chromosome 21, 38309023: 38309023
13 HLCS NM_000411.7(HLCS): c.1533dup (p.Val512Cysfs) duplication Likely pathogenic rs767533946 GRCh37 Chromosome 21, 38137460: 38137460
14 HLCS NM_000411.6(HLCS): c.416T> A (p.Leu139Ter) single nucleotide variant Likely pathogenic rs144572349 GRCh38 Chromosome 21, 36937029: 36937029
15 HLCS NM_000411.6(HLCS): c.1544G> A (p.Ser515Asn) single nucleotide variant Likely pathogenic rs773398782 GRCh38 Chromosome 21, 36765148: 36765148

Expression for Holocarboxylase Synthetase Deficiency

Search GEO for disease gene expression data for Holocarboxylase Synthetase Deficiency.

Pathways for Holocarboxylase Synthetase Deficiency

Pathways related to Holocarboxylase Synthetase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Biotin metabolism hsa00780

Pathways related to Holocarboxylase Synthetase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 ACADL AGL BTD HADH HLCS HMGCL
2
Show member pathways
12.57 ACADL HADH HMGCL MUT SLC25A20
3
Show member pathways
12.04 BTD HLCS LMBRD1 MTHFR MUT PC
4
Show member pathways
12.02 MTHFR MUT PC
5
Show member pathways
11.68 HADH HMGCL MUT
6 11.42 HADH HMGCL MUT PC
7
Show member pathways
11.36 ACADL HADH MUT
8
Show member pathways
11.22 ACADL HADH SLC25A20
9
Show member pathways
11.09 HADH HMGCL
10 10.87 BTD LMBRD1
11 10.82 LMBRD1 MUT
12 10.8 HADH PC
13 9.73 BTD HLCS

GO Terms for Holocarboxylase Synthetase Deficiency

Cellular components related to Holocarboxylase Synthetase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.61 ACADL HADH HLCS HMGCL MUT PC
2 mitochondrial inner membrane GO:0005743 9.46 HADH HMGCL SLC25A13 SLC25A20
3 mitochondrial matrix GO:0005759 9.1 ACADL BTD HADH HMGCL MUT PC

Biological processes related to Holocarboxylase Synthetase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.62 ACADL HADH HMGCL PC
2 fatty acid beta-oxidation GO:0006635 9.43 ACADL HADH
3 metabolic process GO:0008152 9.43 ACADL AGL HLCS MTHFR MUT PC
4 gluconeogenesis GO:0006094 9.4 PC SLC25A13
5 cellular amino acid metabolic process GO:0006520 9.37 MTHFR PTS
6 cobalamin metabolic process GO:0009235 9.26 LMBRD1 MUT
7 homocysteine metabolic process GO:0050667 9.16 MTHFR MUT
8 biotin metabolic process GO:0006768 8.8 BTD HLCS PC

Molecular functions related to Holocarboxylase Synthetase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.56 HLCS HMGCL MTHFR PC
2 fatty-acyl-CoA binding GO:0000062 9.32 ACADL HMGCL
3 cobalamin binding GO:0031419 9.16 LMBRD1 MUT
4 modified amino acid binding GO:0072341 8.96 MTHFR MUT
5 biotin binding GO:0009374 8.62 HLCS PC

Sources for Holocarboxylase Synthetase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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