HAWK
MCID: HWK001
MIFTS: 29

Hawkinsinuria (HAWK)

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

Aliases & Classifications for Hawkinsinuria

MalaCards integrated aliases for Hawkinsinuria:

Name: Hawkinsinuria 58 54 60 76 13 41 74
4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency 54 60 76 30 6
4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency 60 76
4-Hppd Deficiency 60 76
Hawk 76

Characteristics:

Orphanet epidemiological data:

60
hawkinsinuria
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to tyrosinemia, type iii


HPO:

33
hawkinsinuria:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 140350
MeSH 45 D020176
MESH via Orphanet 46 C535845
ICD10 via Orphanet 35 E70.2
UMLS via Orphanet 75 C2931042
Orphanet 60 ORPHA2118
MedGen 43 C2931042
UMLS 74 C2931042

Summaries for Hawkinsinuria

NIH Rare Diseases : 54 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 west nile virus. An important gene associated with Hawkinsinuria is HPD (4-Hydroxyphenylpyruvate Dioxygenase). Affiliated tissues include breast, and related phenotypes are failure to thrive and fine hair

OMIM : 58 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 : 76 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 : 77 Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal... more...

Related Diseases for Hawkinsinuria

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 tyrosinemia 10.3
2 west nile virus 10.3
3 tyrosinemia, type iii 10.1
4 secondary hyperparathyroidism 10.0
5 gout 10.0
6 hyperparathyroidism 10.0
7 trichomoniasis 10.0
8 ovarian cancer 9.9
9 prostate cancer 9.9
10 rheumatoid arthritis 9.9
11 tetralogy of fallot 9.9
12 prostate cancer, hereditary, 8 9.9
13 prostate cancer, hereditary, 6 9.9
14 intraocular pressure quantitative trait locus 9.9
15 arthritis 9.9
16 congestive heart failure 9.9
17 pemphigus foliaceus 9.9
18 filariasis 9.9
19 transsexualism 9.9
20 brucellosis 9.9
21 filarial elephantiasis 9.9
22 capillariasis 9.9
23 hyperglycemia 9.9
24 endometrial stromal sarcoma 9.9
25 trichinosis 9.9
26 rere-related disorders 9.9
27 cyanide poisoning 9.9
28 nodular lymphocyte predominant hodgkin lymphoma 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:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
3 metabolic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001942
4 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
5 4-hydroxyphenylpyruvic aciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003161
6 4-hydroxyphenylacetic aciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003607
7 abnormal circulating tyrosine concentration 33 hallmark (90%) HP:0010917
8 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
9 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
10 abnormality of tyrosine metabolism 60 Very frequent (99-80%)
11 hypertyrosinemia 33 HP:0003231

Symptoms via clinical synopsis from OMIM:

58
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

Genetic Tests for Hawkinsinuria

Genetic tests related to Hawkinsinuria:

# Genetic test Affiliating Genes
1 4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency 30 HPD

Anatomical Context for Hawkinsinuria

MalaCards organs/tissues related to Hawkinsinuria:

42
Breast

Publications for Hawkinsinuria

Articles related to Hawkinsinuria:

# Title Authors Year
1
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine. ( 27488560 )
2016
2
Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment. ( 26226126 )
2015
3
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. ( 20677779 )
2010
4
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. ( 17560158 )
2007
5
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. ( 11073718 )
2000
6
Long-term follow up of a new case of hawkinsinuria. ( 10412819 )
1999
7
Hawkinsinuria in two families. ( 1519651 )
1992
8
Hawkinsinuria--identification of quinolacetic acid and pyroglutamic acid during an acidotic phase. ( 6619234 )
1983
9
Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. ( 7278885 )
1981

Variations for Hawkinsinuria

ClinVar genetic disease variations for Hawkinsinuria:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPD NM_002150.2(HPD): c.1005C> G (p.Ile335Met) single nucleotide variant Likely benign rs137852868 GRCh37 Chromosome 12, 122277904: 122277904
2 HPD NM_002150.2(HPD): c.1005C> G (p.Ile335Met) single nucleotide variant Likely benign rs137852868 GRCh38 Chromosome 12, 121839998: 121839998
3 HPD NM_002150.2(HPD): c.97G> A (p.Ala33Thr) single nucleotide variant Benign rs1154510 GRCh37 Chromosome 12, 122295335: 122295335
4 HPD NM_002150.2(HPD): c.97G> A (p.Ala33Thr) single nucleotide variant Benign rs1154510 GRCh38 Chromosome 12, 121857429: 121857429
5 HPD NM_002150.2(HPD): c.15T> G (p.Ser5Arg) single nucleotide variant Benign rs35849100 GRCh37 Chromosome 12, 122296608: 122296608
6 HPD NM_002150.2(HPD): c.15T> G (p.Ser5Arg) single nucleotide variant Benign rs35849100 GRCh38 Chromosome 12, 121858702: 121858702
7 HPD NM_002150.2(HPD): c.954+14A> C single nucleotide variant Likely benign rs200866898 GRCh37 Chromosome 12, 122281602: 122281602
8 HPD NM_002150.2(HPD): c.954+14A> C single nucleotide variant Likely benign rs200866898 GRCh38 Chromosome 12, 121843696: 121843696
9 HPD NM_002150.2(HPD): c.414G> A (p.Thr138=) single nucleotide variant Benign rs140788110 GRCh37 Chromosome 12, 122292609: 122292609
10 HPD NM_002150.2(HPD): c.414G> A (p.Thr138=) single nucleotide variant Benign rs140788110 GRCh38 Chromosome 12, 121854703: 121854703
11 HPD NM_002150.2(HPD): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs774495352 GRCh38 Chromosome 12, 121858712: 121858712
12 HPD NM_002150.2(HPD): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs774495352 GRCh37 Chromosome 12, 122296618: 122296618
13 HPD NM_002150.2(HPD): c.*191C> T single nucleotide variant Uncertain significance rs886049036 GRCh37 Chromosome 12, 122277443: 122277443
14 HPD NM_002150.2(HPD): c.*191C> T single nucleotide variant Uncertain significance rs886049036 GRCh38 Chromosome 12, 121839537: 121839537
15 HPD NM_002150.2(HPD): c.1018G> T (p.Val340Leu) single nucleotide variant Benign/Likely benign rs36023382 GRCh37 Chromosome 12, 122277891: 122277891
16 HPD NM_002150.2(HPD): c.1018G> T (p.Val340Leu) single nucleotide variant Benign/Likely benign rs36023382 GRCh38 Chromosome 12, 121839985: 121839985
17 HPD NM_002150.2(HPD): c.914C> T (p.Thr305Met) single nucleotide variant Likely benign rs200010805 GRCh37 Chromosome 12, 122281656: 122281656
18 HPD NM_002150.2(HPD): c.914C> T (p.Thr305Met) single nucleotide variant Likely benign rs200010805 GRCh38 Chromosome 12, 121843750: 121843750
19 HPD NM_002150.2(HPD): c.895C> T (p.Leu299=) single nucleotide variant Likely benign rs144544907 GRCh37 Chromosome 12, 122281675: 122281675
20 HPD NM_002150.2(HPD): c.895C> T (p.Leu299=) single nucleotide variant Likely benign rs144544907 GRCh38 Chromosome 12, 121843769: 121843769
21 HPD NM_002150.2(HPD): c.765T> C (p.Tyr255=) single nucleotide variant Uncertain significance rs767720774 GRCh37 Chromosome 12, 122284834: 122284834
22 HPD NM_002150.2(HPD): c.765T> C (p.Tyr255=) single nucleotide variant Uncertain significance rs767720774 GRCh38 Chromosome 12, 121846928: 121846928
23 HPD NM_002150.2(HPD): c.294C> T (p.Phe98=) single nucleotide variant Likely benign rs117079110 GRCh38 Chromosome 12, 121856354: 121856354
24 HPD NM_002150.2(HPD): c.294C> T (p.Phe98=) single nucleotide variant Likely benign rs117079110 GRCh37 Chromosome 12, 122294260: 122294260
25 HPD NM_002150.2(HPD): c.93+9C> T single nucleotide variant Likely benign rs542121054 GRCh38 Chromosome 12, 121857748: 121857748
26 HPD NM_002150.2(HPD): c.93+9C> T single nucleotide variant Likely benign rs542121054 GRCh37 Chromosome 12, 122295654: 122295654
27 HPD NM_002150.2(HPD): c.498G> A (p.Met166Ile) single nucleotide variant Likely benign rs149081239 GRCh37 Chromosome 12, 122287613: 122287613
28 HPD NM_002150.2(HPD): c.498G> A (p.Met166Ile) single nucleotide variant Likely benign rs149081239 GRCh38 Chromosome 12, 121849707: 121849707
29 HPD NM_002150.2(HPD): c.338G> A (p.Arg113Gln) single nucleotide variant Benign rs11833399 GRCh37 Chromosome 12, 122292685: 122292685
30 HPD NM_002150.2(HPD): c.338G> A (p.Arg113Gln) single nucleotide variant Benign rs11833399 GRCh38 Chromosome 12, 121854779: 121854779
31 HPD NM_002150.2(HPD): c.211C> G (p.Leu71Val) single nucleotide variant Uncertain significance rs886049037 GRCh38 Chromosome 12, 121856613: 121856613
32 HPD NM_002150.2(HPD): c.211C> G (p.Leu71Val) single nucleotide variant Uncertain significance rs886049037 GRCh37 Chromosome 12, 122294519: 122294519
33 HPD NM_002150.2(HPD): c.836G> A (p.Arg279His) single nucleotide variant Likely benign rs140144597 GRCh37 Chromosome 12, 122281734: 122281734
34 HPD NM_002150.2(HPD): c.836G> A (p.Arg279His) single nucleotide variant Likely benign rs140144597 GRCh38 Chromosome 12, 121843828: 121843828
35 HPD NM_002150.2(HPD): c.94-6A> T single nucleotide variant Benign rs2707072 GRCh38 Chromosome 12, 121857438: 121857438
36 HPD NM_002150.2(HPD): c.94-6A> T single nucleotide variant Benign rs2707072 GRCh37 Chromosome 12, 122295344: 122295344
37 HPD NM_001171993.1(HPD): c.-115+52A> G single nucleotide variant Likely benign rs199549271 GRCh37 Chromosome 12, 122296779: 122296779
38 HPD NM_001171993.1(HPD): c.-115+52A> G single nucleotide variant Likely benign rs199549271 GRCh38 Chromosome 12, 121858873: 121858873
39 HPD NM_001171993.1(HPD): c.-115+47G> A single nucleotide variant Benign rs3741591 GRCh37 Chromosome 12, 122296784: 122296784
40 HPD NM_001171993.1(HPD): c.-115+47G> A single nucleotide variant Benign rs3741591 GRCh38 Chromosome 12, 121858878: 121858878
41 HPD NM_002150.2(HPD): c.499G> A (p.Asp167Asn) single nucleotide variant Benign/Likely benign rs74820788 GRCh37 Chromosome 12, 122287612: 122287612
42 HPD NM_002150.2(HPD): c.499G> A (p.Asp167Asn) single nucleotide variant Benign/Likely benign rs74820788 GRCh38 Chromosome 12, 121849706: 121849706
43 HPD NC_000012.12: g.(?_121843690)_(121847234_?)del deletion Pathogenic GRCh38 Chromosome 12, 121843690: 121847234
44 HPD NC_000012.12: g.(?_121843690)_(121847234_?)del deletion Pathogenic GRCh37 Chromosome 12, 122281596: 122285140
45 HPD NC_000012.12: g.(?_121839708)_(121840068_?)del deletion Uncertain significance GRCh38 Chromosome 12, 121839708: 121840068
46 HPD NC_000012.12: g.(?_121839708)_(121840068_?)del deletion Uncertain significance GRCh37 Chromosome 12, 122277614: 122277974
47 HPD NM_002150.2(HPD): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 122295713: 122295713
48 HPD NM_002150.2(HPD): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 121857807: 121857807
49 HPD NM_002150.2(HPD): c.544G> A (p.Asp182Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 122286957: 122286957
50 HPD NM_002150.2(HPD): c.544G> A (p.Asp182Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 121849051: 121849051

Expression for Hawkinsinuria

Search GEO for disease gene expression data for Hawkinsinuria.

Pathways for Hawkinsinuria

GO Terms for Hawkinsinuria

Sources for Hawkinsinuria

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75 UMLS via Orphanet
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