HAWK
MCID: HWK001
MIFTS: 42

Hawkinsinuria (HAWK)

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

Aliases & Classifications for Hawkinsinuria

MalaCards integrated aliases for Hawkinsinuria:

Name: Hawkinsinuria 57 12 20 58 72 29 13 6 44 15 39 70
4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency 12 73 20 58 72
4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency 12 58 72
4-Hppd Deficiency 12 58 72
Hawk 72

Characteristics:

Orphanet epidemiological data:

58
hawkinsinuria
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
allelic to tyrosinemia, type iii


HPO:

31
hawkinsinuria:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111362
OMIM® 57 140350
SNOMED-CT 67 403001
MESH via Orphanet 45 C535845
ICD10 via Orphanet 33 E70.2
UMLS via Orphanet 71 C2931042
Orphanet 58 ORPHA2118
MedGen 41 C2931042
UMLS 70 C2931042

Summaries for Hawkinsinuria

GARD : 20 Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. The signs and symptoms may include: failure to gain weight and grow at the expected rate (failure to thrive), abnormally high acid levels in the blood (acidosis), and fine or sparse hair. Hawkinsinuria is caused by mutations in the HPD gene and is inherited in an autosomal dominant manner. Treatment may include dietary supplements or restrictions.

MalaCards based summary : Hawkinsinuria, also known as 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency, is related to tyrosinemia and tyrosinemia, type iii. An important gene associated with Hawkinsinuria is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Amino Acid metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Affiliated tissues include bone and heart, and related phenotypes are failure to thrive and fine hair

Disease Ontology : 12 An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has material basis in heterozygous mutation in HPD on chromosome 12q24.31.

OMIM® : 57 Hawkinsinuria is an autosomal dominant inborn error of metabolism (Danks et al., 1975; Tomoeda et al., 2000). Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life. (140350) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Hawkinsinuria: An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.

Wikipedia : 73 Hawkinsinuria, is an autosomal dominant metabolic disorder affecting the metabolism of... more...

Related Diseases for Hawkinsinuria

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 tyrosinemia 30.1 TAT HPD FAH
2 tyrosinemia, type iii 30.0 TAT HPD FAH
3 metabolic acidosis 10.3
4 macular degeneration, age-related, 1 10.2
5 disorder of tyrosine metabolism 10.1
6 west nile virus 10.1
7 kuhnt-junius degeneration 10.1
8 atrial standstill 1 10.0
9 chlamydia 10.0
10 gout 10.0
11 hypertelorism, preauricular sinus, punctal pits, and deafness 10.0
12 ochronosis 10.0 HPD FAH
13 rheumatoid arthritis 10.0
14 microvascular complications of diabetes 5 10.0
15 perching syndrome 10.0
16 meningoencephalitis 10.0
17 secondary hyperparathyroidism 10.0
18 hyperparathyroidism 10.0
19 arthritis 10.0
20 west nile virus infection 10.0
21 glutathione synthetase deficiency 9.9
22 abdominal obesity-metabolic syndrome 1 9.9
23 hypophosphatemia 9.9
24 autosomal recessive disease 9.9
25 renal tubular acidosis 9.9
26 bilirubin metabolic disorder 9.9
27 hypoglycemia 9.9
28 tyrosinemia, type ii 9.8 TAT HPD FAH
29 neu-laxova syndrome 2 9.8 TAT OPLAH
30 atherosclerosis susceptibility 9.8
31 meckel diverticulum 9.8
32 mesothelioma, malignant 9.8
33 ovarian cancer 9.8
34 chromosome 2q35 duplication syndrome 9.8
35 triiodothyronine receptor auxiliary protein 9.8
36 richards-rundle syndrome 9.8
37 gastrointestinal stromal tumor 9.8
38 hearing loss, noise-induced 9.8
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
40 hyperphosphatemia 9.8
41 thrombosis 9.8
42 bone resorption disease 9.8
43 endocarditis 9.8
44 anthracosis 9.8
45 transsexualism 9.8
46 pasteurellosis 9.8
47 retinal vasculitis 9.8
48 bronchopneumonia 9.8
49 capillariasis 9.8
50 leiomyoma 9.8

Graphical network of the top 20 diseases related to Hawkinsinuria:



Diseases related to Hawkinsinuria

Symptoms & Phenotypes for Hawkinsinuria

Human phenotypes related to Hawkinsinuria:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
3 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
4 metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001942
5 4-hydroxyphenylpyruvic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003161
6 4-hydroxyphenylacetic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003607
7 abnormal circulating tyrosine concentration 31 hallmark (90%) HP:0010917
8 hypotonia 31 frequent (33%) HP:0001252
9 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
10 muscular hypotonia 58 Frequent (79-30%)
11 abnormality of tyrosine metabolism 58 Very frequent (99-80%)
12 hypertyrosinemia 31 HP:0003231

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Metabolic Features:
metabolic acidosis (transient, resolves in infancy)

Laboratory Abnormalities:
4-hydroxyphenylpyruvic aciduria
4-hydroxyphenylacetic aciduria
4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)
hawkinsinuria
tyrosinemia (transient, resolves in infancy)
more

Clinical features from OMIM®:

140350 (Updated 20-May-2021)

Drugs & Therapeutics for Hawkinsinuria

Search Clinical Trials , NIH Clinical Center for Hawkinsinuria

Cochrane evidence based reviews: hawkinsinuria

Genetic Tests for Hawkinsinuria

Genetic tests related to Hawkinsinuria:

# Genetic test Affiliating Genes
1 Hawkinsinuria 29 HPD

Anatomical Context for Hawkinsinuria

MalaCards organs/tissues related to Hawkinsinuria:

40
Bone, Heart

Publications for Hawkinsinuria

Articles related to Hawkinsinuria:

(show all 20)
# Title Authors PMID Year
1
Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy. 6 57 61
30984715 2019
2
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 57 6 61
17560158 2007
3
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. 57 6 61
11073718 2000
4
Hawkinsinuria in two families. 61 6 57
1519651 1992
5
A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother. 6 57
858207 1977
6
A new form of prolonged transient tyrosinemia presenting with severe metabolic acidosis. 6 57
1130176 1975
7
Long-term follow up of a new case of hawkinsinuria. 57 61
10412819 1999
8
Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. 57 61
7278885 1981
9
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine. 61 20
27488560 2016
10
An inborn defect in the metabolism of tyrosine in infants on a normal diet. 57
16748849 1960
11
Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS). 61
32109208 2020
12
Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review. 61
31342835 2020
13
In-Silico analysis of missense SNPs in Human HPPD gene associated with Tyrosinemia type III and Hawkinsinuria. 61
31054541 2019
14
Qualitative urinary organic acid analysis: 10 years of quality assurance. 61
27146437 2016
15
Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment. 61
26226126 2016
16
Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy. 61
20961553 2010
17
Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria. 61
20677779 2010
18
Animal models reveal pathophysiologies of tyrosinemias. 61
12771366 2003
19
[Hawkinsinuria]. 61
9590009 1998
20
Hawkinsinuria--identification of quinolacetic acid and pyroglutamic acid during an acidotic phase. 61
6619234 1983

Variations for Hawkinsinuria

ClinVar genetic disease variations for Hawkinsinuria:

6 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPD NM_002150.3(HPD):c.75G>A (p.Trp25Ter) SNV Pathogenic 529468 rs367674632 GRCh37: 12:122295681-122295681
GRCh38: 12:121857775-121857775
2 HPD NC_000012.12:g.(?_121843690)_(121847234_?)del Deletion Pathogenic 529472 GRCh37: 12:122281596-122285140
GRCh38: 12:121843690-121847234
3 HPD NM_002150.3(HPD):c.43C>T (p.Arg15Ter) SNV Pathogenic 570062 rs775747384 GRCh37: 12:122295713-122295713
GRCh38: 12:121857807-121857807
4 HPD NM_002150.3(HPD):c.158dup (p.Ser54fs) Duplication Pathogenic 642856 rs895823217 GRCh37: 12:122295273-122295274
GRCh38: 12:121857367-121857368
5 HPD NM_002150.3(HPD):c.722A>G (p.Asn241Ser) SNV Pathogenic 979166 GRCh37: 12:122284995-122284995
GRCh38: 12:121847089-121847089
6 HPD NM_002150.3(HPD):c.852_853del (p.Gly285fs) Microsatellite Pathogenic 953791 GRCh37: 12:122281717-122281718
GRCh38: 12:121843811-121843812
7 HPD NM_002150.3(HPD):c.97= (p.Thr33=) SNV Pathogenic 1577 rs1154510 GRCh37: 12:122295335-122295335
GRCh38: 12:121857429-121857429
8 HPD NM_002150.3(HPD):c.1005C>G (p.Ile335Met) SNV Conflicting interpretations of pathogenicity 1576 rs137852868 GRCh37: 12:122277904-122277904
GRCh38: 12:121839998-121839998
9 HPD NM_002150.3(HPD):c.1151del (p.Met384fs) Deletion Uncertain significance 529466 rs1555339247 GRCh37: 12:122277665-122277665
GRCh38: 12:121839759-121839759
10 HPD NM_002150.3(HPD):c.109T>C (p.Cys37Arg) SNV Uncertain significance 529467 rs1246785384 GRCh37: 12:122295323-122295323
GRCh38: 12:121857417-121857417
11 HPD NM_002150.3(HPD):c.544G>A (p.Asp182Asn) SNV Uncertain significance 573513 rs750446552 GRCh37: 12:122286957-122286957
GRCh38: 12:121849051-121849051
12 HPD NM_002150.3(HPD):c.1120G>A (p.Glu374Lys) SNV Uncertain significance 638895 rs1020099831 GRCh37: 12:122277696-122277696
GRCh38: 12:121839790-121839790
13 HPD NM_002150.3(HPD):c.104T>C (p.Phe35Ser) SNV Uncertain significance 638896 rs1592923946 GRCh37: 12:122295328-122295328
GRCh38: 12:121857422-121857422
14 HPD NM_002150.3(HPD):c.485C>T (p.Ala162Val) SNV Uncertain significance 566973 rs1566570874 GRCh37: 12:122287626-122287626
GRCh38: 12:121849720-121849720
15 HPD NM_002150.3(HPD):c.211C>G (p.Leu71Val) SNV Uncertain significance 307488 rs886049037 GRCh37: 12:122294519-122294519
GRCh38: 12:121856613-121856613
16 HPD NC_000012.12:g.(?_121839708)_(121840068_?)del Deletion Uncertain significance 529471 GRCh37: 12:122277614-122277974
GRCh38: 12:121839708-121840068
17 HPD NM_002150.3(HPD):c.*191C>T SNV Uncertain significance 307477 rs886049036 GRCh37: 12:122277443-122277443
GRCh38: 12:121839537-121839537
18 HPD NM_002150.3(HPD):c.5C>T (p.Thr2Met) SNV Uncertain significance 307491 rs774495352 GRCh37: 12:122296618-122296618
GRCh38: 12:121858712-121858712
19 HPD NM_002150.3(HPD):c.914C>T (p.Thr305Met) SNV Uncertain significance 307480 rs200010805 GRCh37: 12:122281656-122281656
GRCh38: 12:121843750-121843750
20 HPD NM_002150.3(HPD):c.479A>G (p.Tyr160Cys) SNV Uncertain significance 1573 rs137852865 GRCh37: 12:122287632-122287632
GRCh38: 12:121849726-121849726
21 HPD NM_002150.3(HPD):c.247G>A (p.Gly83Ser) SNV Uncertain significance 1010137 GRCh37: 12:122294307-122294307
GRCh38: 12:121856401-121856401
22 HPD NM_002150.3(HPD):c.954+5G>A SNV Uncertain significance 1037253 GRCh37: 12:122281611-122281611
GRCh38: 12:121843705-121843705
23 HPD NM_002150.3(HPD):c.356G>A (p.Arg119Gln) SNV Uncertain significance 1042401 GRCh37: 12:122292667-122292667
GRCh38: 12:121854761-121854761
24 HPD NM_002150.3(HPD):c.356_358del (p.Arg119_Glu120delinsGln) Deletion Uncertain significance 1047816 GRCh37: 12:122292665-122292667
GRCh38: 12:121854759-121854761
25 HPD NM_002150.3(HPD):c.688G>A (p.Ala230Thr) SNV Uncertain significance 1055324 GRCh37: 12:122285029-122285029
GRCh38: 12:121847123-121847123
26 HPD NM_002150.3(HPD):c.1106A>G (p.Lys369Arg) SNV Uncertain significance 1061349 GRCh37: 12:122277710-122277710
GRCh38: 12:121839804-121839804
27 HPD NM_002150.3(HPD):c.518+3G>A SNV Uncertain significance 882619 GRCh37: 12:122287590-122287590
GRCh38: 12:121849684-121849684
28 HPD NM_002150.3(HPD):c.*82T>C SNV Uncertain significance 883352 GRCh37: 12:122277552-122277552
GRCh38: 12:121839646-121839646
29 HPD NM_002150.3(HPD):c.*69C>T SNV Uncertain significance 883353 GRCh37: 12:122277565-122277565
GRCh38: 12:121839659-121839659
30 HPD NM_002150.3(HPD):c.*65A>G SNV Uncertain significance 883354 GRCh37: 12:122277569-122277569
GRCh38: 12:121839663-121839663
31 HPD NM_002150.3(HPD):c.1165G>C (p.Val389Leu) SNV Uncertain significance 883355 GRCh37: 12:122277651-122277651
GRCh38: 12:121839745-121839745
32 HPD NM_002150.3(HPD):c.1121A>T (p.Glu374Val) SNV Uncertain significance 936108 GRCh37: 12:122277695-122277695
GRCh38: 12:121839789-121839789
33 HPD NM_002150.3(HPD):c.778G>A (p.Gly260Arg) SNV Uncertain significance 936109 GRCh37: 12:122284821-122284821
GRCh38: 12:121846915-121846915
34 HPD NM_002150.3(HPD):c.1159A>G (p.Asn387Asp) SNV Uncertain significance 937138 GRCh37: 12:122277657-122277657
GRCh38: 12:121839751-121839751
35 HPD NM_002150.3(HPD):c.1061A>G (p.His354Arg) SNV Uncertain significance 880988 GRCh37: 12:122277848-122277848
GRCh38: 12:121839942-121839942
36 HPD NM_002150.3(HPD):c.92A>G (p.Gln31Arg) SNV Uncertain significance 881505 GRCh37: 12:122295664-122295664
GRCh38: 12:121857758-121857758
37 HPD NM_002150.3(HPD):c.915G>A (p.Thr305=) SNV Uncertain significance 882351 GRCh37: 12:122281655-122281655
GRCh38: 12:121843749-121843749
38 HPD NC_000012.12:g.121839526A>T SNV Uncertain significance 882570 GRCh37: 12:122277432-122277432
GRCh38: 12:121839526-121839526
39 HPD NM_002150.3(HPD):c.*190G>T SNV Uncertain significance 882571 GRCh37: 12:122277444-122277444
GRCh38: 12:121839538-121839538
40 HPD NC_000012.12:g.(?_121846842)_(121849810_?)del Deletion Uncertain significance 832353 GRCh37: 12:122284748-122287716
GRCh38:
41 HPD NM_002150.3(HPD):c.274G>A (p.Gly92Arg) SNV Uncertain significance 835800 GRCh37: 12:122294280-122294280
GRCh38: 12:121856374-121856374
42 HPD NM_002150.3(HPD):c.634G>A (p.Val212Met) SNV Uncertain significance 846753 GRCh37: 12:122285083-122285083
GRCh38: 12:121847177-121847177
43 HPD NM_002150.3(HPD):c.898C>T (p.Arg300Trp) SNV Uncertain significance 846837 GRCh37: 12:122281672-122281672
GRCh38: 12:121843766-121843766
44 HPD NM_002150.3(HPD):c.561C>G (p.Asn187Lys) SNV Uncertain significance 854921 GRCh37: 12:122286940-122286940
GRCh38: 12:121849034-121849034
45 HPD NM_002150.3(HPD):c.574G>A (p.Glu192Lys) SNV Uncertain significance 854922 GRCh37: 12:122286927-122286927
GRCh38: 12:121849021-121849021
46 HPD NM_002150.3(HPD):c.61T>C (p.Ser21Pro) SNV Uncertain significance 861981 GRCh37: 12:122295695-122295695
GRCh38: 12:121857789-121857789
47 HPD NM_002150.3(HPD):c.1016C>G (p.Pro339Arg) SNV Uncertain significance 961805 GRCh37: 12:122277893-122277893
GRCh38: 12:121839987-121839987
48 HPD NM_002150.3(HPD):c.415T>A (p.Tyr139Asn) SNV Uncertain significance 970298 GRCh37: 12:122287696-122287696
GRCh38: 12:121849790-121849790
49 HPD NM_002150.3(HPD):c.941T>C (p.Ile314Thr) SNV Uncertain significance 971764 GRCh37: 12:122281629-122281629
GRCh38: 12:121843723-121843723
50 HPD NM_002150.3(HPD):c.1108G>A (p.Ala370Thr) SNV Likely benign 880987 GRCh37: 12:122277708-122277708
GRCh38: 12:121839802-121839802

Expression for Hawkinsinuria

Search GEO for disease gene expression data for Hawkinsinuria.

Pathways for Hawkinsinuria

GO Terms for Hawkinsinuria

Biological processes related to Hawkinsinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 L-phenylalanine catabolic process GO:0006559 9.33 TAT HPD FAH
2 aromatic amino acid family metabolic process GO:0009072 9.13 TAT HPD FAH
3 tyrosine catabolic process GO:0006572 8.8 TAT HPD FAH

Molecular functions related to Hawkinsinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 8.8 TAT OPLAH FAH

Sources for Hawkinsinuria

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
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