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 56 12 52 58 73 29 13 6 43 15 39 71
4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency 12 74 52 58 73
4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency 12 58 73
4-Hppd Deficiency 12 58 73
Hawk 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 140350
SNOMED-CT 67 414380008
MESH via Orphanet 44 C535845
ICD10 via Orphanet 33 E70.2
UMLS via Orphanet 72 C2931042
Orphanet 58 ORPHA2118
MedGen 41 C2931042
UMLS 71 C2931042

Summaries for Hawkinsinuria

NIH Rare Diseases : 52 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 breast, 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 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 85)
# Related Disease Score Top Affiliating Genes
1 tyrosinemia 30.2 TAT HPD FAH
2 tyrosinemia, type iii 30.2 TAT HPD FAH
3 metabolic acidosis 10.6
4 west nile virus 10.5
5 disorder of tyrosine metabolism 10.4
6 ataxia and polyneuropathy, adult-onset 10.3
7 hypertelorism, preauricular sinus, punctal pits, and deafness 10.3
8 macular degeneration, age-related, 1 10.2
9 chlamydia 10.2
10 gout 10.2
11 trichomoniasis 10.2
12 west nile virus infection 10.2
13 atrial standstill 1 10.2
14 meningoencephalitis 10.2
15 kuhnt-junius degeneration 10.2
16 choroiditis 10.2
17 myocarditis 10.2
18 glutathione synthetase deficiency 10.1
19 abdominal obesity-metabolic syndrome 1 10.1
20 hypophosphatemia 10.1
21 autosomal recessive disease 10.1
22 renal tubular acidosis 10.1
23 bilirubin metabolic disorder 10.1
24 hypoglycemia 10.1
25 triiodothyronine receptor auxiliary protein 10.1
26 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
27 aspergillosis 10.1
28 perching syndrome 10.1
29 secondary hyperparathyroidism 10.1
30 hyperparathyroidism 10.1
31 endophthalmitis 10.1
32 splenomegaly 10.1
33 posttransplant acute limbic encephalitis 10.1
34 atherosclerosis susceptibility 9.9
35 ehlers-danlos syndrome, arthrochalasia type, 1 9.9
36 intussusception 9.9
37 meckel diverticulum 9.9
38 mesothelioma, malignant 9.9
39 chromosome 2q35 duplication syndrome 9.9
40 body mass index quantitative trait locus 1 9.9
41 gastrointestinal stromal tumor 9.9
42 mycobacterium tuberculosis 1 9.9
43 microvascular complications of diabetes 5 9.9
44 hearing loss, noise-induced 9.9
45 hyperphosphatemia 9.9
46 xanthinuria 9.9
47 bone resorption disease 9.9
48 endocarditis 9.9
49 anthracosis 9.9
50 filariasis 9.9

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 11)
# 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 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
9 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
10 abnormality of tyrosine metabolism 58 Very frequent (99-80%)
11 hypertyrosinemia 31 HP:0003231

Symptoms via clinical synopsis from OMIM:

56
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

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
Breast

Publications for Hawkinsinuria

Articles related to Hawkinsinuria:

(show all 20)
# Title Authors PMID Year
1
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. 56 6 61
11073718 2000
2
Hawkinsinuria in two families. 61 56 6
1519651 1992
3
A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother. 6 56
858207 1977
4
A new form of prolonged transient tyrosinemia presenting with severe metabolic acidosis. 6 56
1130176 1975
5
Long-term follow up of a new case of hawkinsinuria. 56 61
10412819 1999
6
Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. 61 56
7278885 1981
7
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine. 61 52
27488560 2016
8
An inborn defect in the metabolism of tyrosine in infants on a normal diet. 56
16748849 1960
9
Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS). 61
32109208 2020
10
Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review. 61
31342835 2019
11
In-Silico analysis of missense SNPs in Human HPPD gene associated with Tyrosinemia type III and Hawkinsinuria. 61
31054541 2019
12
Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy. 61
30984715 2019
13
Qualitative urinary organic acid analysis: 10 years of quality assurance. 61
27146437 2016
14
Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment. 61
26226126 2016
15
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
16
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
17
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 61
17560158 2007
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 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HPD NC_000012.12:g.(?_121843690)_(121847234_?)deldeletion Pathogenic 529472 12:122281596-122285140 12:121843690-121847234
2 HPD NM_002150.3(HPD):c.75G>A (p.Trp25Ter)SNV Pathogenic 529468 rs367674632 12:122295681-122295681 12:121857775-121857775
3 HPD NM_002150.3(HPD):c.43C>T (p.Arg15Ter)SNV Pathogenic 570062 rs775747384 12:122295713-122295713 12:121857807-121857807
4 HPD NM_002150.3(HPD):c.158dup (p.Ser54fs)duplication Pathogenic 642856 12:122295273-122295274 12:121857367-121857368
5 HPD NM_002150.3(HPD):c.1108G>A (p.Ala370Thr)SNV Conflicting interpretations of pathogenicity 880987 12:122277708-122277708 12:121839802-121839802
6 HPD NM_002150.3(HPD):c.543C>T (p.Ile181=)SNV Conflicting interpretations of pathogenicity 882618 12:122286958-122286958 12:121849052-121849052
7 HPD NM_002150.3(HPD):c.1005C>G (p.Ile335Met)SNV Conflicting interpretations of pathogenicity 1576 rs137852868 12:122277904-122277904 12:121839998-121839998
8 HPD NM_002150.3(HPD):c.954+14A>CSNV Conflicting interpretations of pathogenicity 307479 rs200866898 12:122281602-122281602 12:121843696-121843696
9 HPD NM_002150.3(HPD):c.895C>T (p.Leu299=)SNV Conflicting interpretations of pathogenicity 307481 rs144544907 12:122281675-122281675 12:121843769-121843769
10 HPD NM_002150.3(HPD):c.765T>C (p.Tyr255=)SNV Conflicting interpretations of pathogenicity 307483 rs767720774 12:122284834-122284834 12:121846928-121846928
11 HPD NM_002150.3(HPD):c.294C>T (p.Phe98=)SNV Conflicting interpretations of pathogenicity 307487 rs117079110 12:122294260-122294260 12:121856354-121856354
12 HPD NM_002150.3(HPD):c.93+9C>TSNV Conflicting interpretations of pathogenicity 307490 rs542121054 12:122295654-122295654 12:121857748-121857748
13 HPD NM_002150.3(HPD):c.498G>A (p.Met166Ile)SNV Conflicting interpretations of pathogenicity 307484 rs149081239 12:122287613-122287613 12:121849707-121849707
14 HPD NM_002150.3(HPD):c.836G>A (p.Arg279His)SNV Conflicting interpretations of pathogenicity 307482 rs140144597 12:122281734-122281734 12:121843828-121843828
15 HPD NM_002150.3(HPD):c.5C>T (p.Thr2Met)SNV Uncertain significance 307491 rs774495352 12:122296618-122296618 12:121858712-121858712
16 HPD NM_002150.3(HPD):c.*191C>TSNV Uncertain significance 307477 rs886049036 12:122277443-122277443 12:121839537-121839537
17 HPD NM_002150.3(HPD):c.914C>T (p.Thr305Met)SNV Uncertain significance 307480 rs200010805 12:122281656-122281656 12:121843750-121843750
18 HPD NM_002150.3(HPD):c.211C>G (p.Leu71Val)SNV Uncertain significance 307488 rs886049037 12:122294519-122294519 12:121856613-121856613
19 HPD NM_002150.3(HPD):c.92A>G (p.Gln31Arg)SNV Uncertain significance 881505 12:122295664-122295664 12:121857758-121857758
20 HPD NC_000012.12:g.121839526A>TSNV Uncertain significance 882570 12:122277432-122277432 12:121839526-121839526
21 HPD NM_002150.3(HPD):c.518+3G>ASNV Uncertain significance 882619 12:122287590-122287590 12:121849684-121849684
22 HPD NM_002150.3(HPD):c.1061A>G (p.His354Arg)SNV Uncertain significance 880988 12:122277848-122277848 12:121839942-121839942
23 HPD NM_002150.3(HPD):c.915G>A (p.Thr305=)SNV Uncertain significance 882351 12:122281655-122281655 12:121843749-121843749
24 HPD NM_002150.3(HPD):c.104T>C (p.Phe35Ser)SNV Uncertain significance 638896 12:122295328-122295328 12:121857422-121857422
25 HPD NC_000012.12:g.(?_121846842)_(121849810_?)deldeletion Uncertain significance 832353 12:122284748-122287716
26 HPD NM_002150.3(HPD):c.898C>T (p.Arg300Trp)SNV Uncertain significance 846837 12:122281672-122281672 12:121843766-121843766
27 HPD NM_002150.3(HPD):c.634G>A (p.Val212Met)SNV Uncertain significance 846753 12:122285083-122285083 12:121847177-121847177
28 HPD NM_002150.3(HPD):c.574G>A (p.Glu192Lys)SNV Uncertain significance 854922 12:122286927-122286927 12:121849021-121849021
29 HPD NM_002150.3(HPD):c.561C>G (p.Asn187Lys)SNV Uncertain significance 854921 12:122286940-122286940 12:121849034-121849034
30 HPD NM_002150.3(HPD):c.274G>A (p.Gly92Arg)SNV Uncertain significance 835800 12:122294280-122294280 12:121856374-121856374
31 HPD NM_002150.3(HPD):c.61T>C (p.Ser21Pro)SNV Uncertain significance 861981 12:122295695-122295695 12:121857789-121857789
32 HPD NM_002150.3(HPD):c.*190G>TSNV Uncertain significance 882571 12:122277444-122277444 12:121839538-121839538
33 HPD NM_002150.3(HPD):c.*82T>CSNV Uncertain significance 883352 12:122277552-122277552 12:121839646-121839646
34 HPD NM_002150.3(HPD):c.*69C>TSNV Uncertain significance 883353 12:122277565-122277565 12:121839659-121839659
35 HPD NM_002150.3(HPD):c.*65A>GSNV Uncertain significance 883354 12:122277569-122277569 12:121839663-121839663
36 HPD NM_002150.3(HPD):c.1165G>C (p.Val389Leu)SNV Uncertain significance 883355 12:122277651-122277651 12:121839745-121839745
37 HPD NM_002150.3(HPD):c.485C>T (p.Ala162Val)SNV Uncertain significance 566973 rs1566570874 12:122287626-122287626 12:121849720-121849720
38 HPD NM_002150.3(HPD):c.1120G>A (p.Glu374Lys)SNV Uncertain significance 638895 12:122277696-122277696 12:121839790-121839790
39 HPD NM_002150.3(HPD):c.544G>A (p.Asp182Asn)SNV Uncertain significance 573513 rs750446552 12:122286957-122286957 12:121849051-121849051
40 HPD NM_002150.3(HPD):c.109T>C (p.Cys37Arg)SNV Uncertain significance 529467 rs1246785384 12:122295323-122295323 12:121857417-121857417
41 HPD NC_000012.12:g.(?_121839708)_(121840068_?)deldeletion Uncertain significance 529471 12:122277614-122277974 12:121839708-121840068
42 HPD NM_002150.3(HPD):c.1151del (p.Met384fs)deletion Uncertain significance 529466 rs1555339247 12:122277665-122277665 12:121839759-121839759
43 HPD NM_002150.3(HPD):c.760-7C>TSNV Likely benign 529469 rs748133768 12:122284846-122284846 12:121846940-121846940
44 HPD NM_002150.3(HPD):c.955-7C>GSNV Likely benign 719449 12:122277961-122277961 12:121840055-121840055
45 HPD NM_002150.3(HPD):c.249C>T (p.Gly83=)SNV Likely benign 723736 12:122294305-122294305 12:121856399-121856399
46 HPD NM_002150.3(HPD):c.156C>T (p.Thr52=)SNV Likely benign 739986 12:122295276-122295276 12:121857370-121857370
47 HPD NM_001171993.1(HPD):c.-115+52A>GSNV Likely benign 368981 rs199549271 12:122296779-122296779 12:121858873-121858873
48 HPD NM_002150.3(HPD):c.499G>A (p.Asp167Asn)SNV Benign/Likely benign 513314 rs74820788 12:122287612-122287612 12:121849706-121849706
49 HPD NM_002150.3(HPD):c.813C>T (p.Thr271=)SNV Benign 459972 rs144416002 12:122284786-122284786 12:121846880-121846880
50 HPD NM_002150.3(HPD):c.345C>T (p.Ala115=)SNV Benign 529470 rs59741465 12:122292678-122292678 12:121854772-121854772

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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