MCID: HWK001
MIFTS: 27

Hawkinsinuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hawkinsinuria

MalaCards integrated aliases for Hawkinsinuria:

Name: Hawkinsinuria 57 53 59 75 13 40 73
4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency 53 59 75 29 6
4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency 59 75
4-Hppd Deficiency 59 75
Hawk 75

Characteristics:

Orphanet epidemiological data:

59
hawkinsinuria
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to tyrosinemia, type iii


HPO:

32
hawkinsinuria:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 140350
Orphanet 59 ORPHA2118
ICD10 via Orphanet 34 E70.2
MESH via Orphanet 45 C535845
UMLS via Orphanet 74 C2931042
MedGen 42 C2931042
MeSH 44 D020176
UMLS 73 C2931042

Summaries for Hawkinsinuria

NIH Rare Diseases : 53 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 trichomoniasis. An important gene associated with Hawkinsinuria is HPD (4-Hydroxyphenylpyruvate Dioxygenase). Related phenotypes are hypothyroidism and muscular hypotonia

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 13)
# Related Disease Score Top Affiliating Genes
1 tyrosinemia 10.2
2 trichomoniasis 10.0
3 tyrosinemia, type iii 9.9
4 transsexuality 9.8
5 congestive heart failure 9.8
6 hepatitis 9.8
7 filariasis 9.8
8 transsexualism 9.8
9 filarial elephantiasis 9.8
10 capillariasis 9.8
11 gout 9.8
12 retinitis 9.8
13 cyanide poisoning 9.8

Graphical network of the top 20 diseases related to Hawkinsinuria:



Diseases related to Hawkinsinuria

Symptoms & Phenotypes for Hawkinsinuria

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hawkinsinuria:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001942
5 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
6 4-hydroxyphenylpyruvic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003161
7 4-hydroxyphenylacetic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003607
8 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
9 abnormality of tyrosine metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0010917
10 hypertyrosinemia 32 HP:0003231

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 29 HPD

Anatomical Context for Hawkinsinuria

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
In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic acid dioxygenase deficiencies in strain III mice. ( 8989996 )
1997
8
Hawkinsinuria in two families. ( 1519651 )
1992
9
Hawkinsinuria--identification of quinolacetic acid and pyroglutamic acid during an acidotic phase. ( 6619234 )
1983
10
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 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPD NM_002150.2(HPD): c.15T> G (p.Ser5Arg) single nucleotide variant Benign rs35849100 GRCh37 Chromosome 12, 122296608: 122296608
2 HPD NM_002150.2(HPD): c.15T> G (p.Ser5Arg) single nucleotide variant Benign rs35849100 GRCh38 Chromosome 12, 121858702: 121858702
3 HPD NM_002150.2(HPD): c.954+14A> C single nucleotide variant Likely benign rs200866898 GRCh37 Chromosome 12, 122281602: 122281602
4 HPD NM_002150.2(HPD): c.954+14A> C single nucleotide variant Likely benign rs200866898 GRCh38 Chromosome 12, 121843696: 121843696
5 HPD NM_002150.2(HPD): c.414G> A (p.Thr138=) single nucleotide variant Benign rs140788110 GRCh37 Chromosome 12, 122292609: 122292609
6 HPD NM_002150.2(HPD): c.414G> A (p.Thr138=) single nucleotide variant Benign rs140788110 GRCh38 Chromosome 12, 121854703: 121854703
7 HPD NM_002150.2(HPD): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs774495352 GRCh38 Chromosome 12, 121858712: 121858712
8 HPD NM_002150.2(HPD): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs774495352 GRCh37 Chromosome 12, 122296618: 122296618
9 HPD NM_002150.2(HPD): c.*191C> T single nucleotide variant Uncertain significance rs886049036 GRCh37 Chromosome 12, 122277443: 122277443
10 HPD NM_002150.2(HPD): c.*191C> T single nucleotide variant Uncertain significance rs886049036 GRCh38 Chromosome 12, 121839537: 121839537
11 HPD NM_002150.2(HPD): c.1018G> T (p.Val340Leu) single nucleotide variant Benign/Likely benign rs36023382 GRCh37 Chromosome 12, 122277891: 122277891
12 HPD NM_002150.2(HPD): c.1018G> T (p.Val340Leu) single nucleotide variant Benign/Likely benign rs36023382 GRCh38 Chromosome 12, 121839985: 121839985
13 HPD NM_002150.2(HPD): c.914C> T (p.Thr305Met) single nucleotide variant Likely benign rs200010805 GRCh37 Chromosome 12, 122281656: 122281656
14 HPD NM_002150.2(HPD): c.914C> T (p.Thr305Met) single nucleotide variant Likely benign rs200010805 GRCh38 Chromosome 12, 121843750: 121843750
15 HPD NM_002150.2(HPD): c.895C> T (p.Leu299=) single nucleotide variant Likely benign rs144544907 GRCh37 Chromosome 12, 122281675: 122281675
16 HPD NM_002150.2(HPD): c.895C> T (p.Leu299=) single nucleotide variant Likely benign rs144544907 GRCh38 Chromosome 12, 121843769: 121843769
17 HPD NM_002150.2(HPD): c.765T> C (p.Tyr255=) single nucleotide variant Uncertain significance rs767720774 GRCh37 Chromosome 12, 122284834: 122284834
18 HPD NM_002150.2(HPD): c.765T> C (p.Tyr255=) single nucleotide variant Uncertain significance rs767720774 GRCh38 Chromosome 12, 121846928: 121846928
19 HPD NM_002150.2(HPD): c.294C> T (p.Phe98=) single nucleotide variant Likely benign rs117079110 GRCh38 Chromosome 12, 121856354: 121856354
20 HPD NM_002150.2(HPD): c.294C> T (p.Phe98=) single nucleotide variant Likely benign rs117079110 GRCh37 Chromosome 12, 122294260: 122294260
21 HPD NM_002150.2(HPD): c.93+9C> T single nucleotide variant Likely benign rs542121054 GRCh38 Chromosome 12, 121857748: 121857748
22 HPD NM_002150.2(HPD): c.93+9C> T single nucleotide variant Likely benign rs542121054 GRCh37 Chromosome 12, 122295654: 122295654
23 HPD NM_002150.2(HPD): c.498G> A (p.Met166Ile) single nucleotide variant Likely benign rs149081239 GRCh37 Chromosome 12, 122287613: 122287613
24 HPD NM_002150.2(HPD): c.498G> A (p.Met166Ile) single nucleotide variant Likely benign rs149081239 GRCh38 Chromosome 12, 121849707: 121849707
25 HPD NM_002150.2(HPD): c.338G> A (p.Arg113Gln) single nucleotide variant Benign rs11833399 GRCh37 Chromosome 12, 122292685: 122292685
26 HPD NM_002150.2(HPD): c.338G> A (p.Arg113Gln) single nucleotide variant Benign rs11833399 GRCh38 Chromosome 12, 121854779: 121854779
27 HPD NM_002150.2(HPD): c.211C> G (p.Leu71Val) single nucleotide variant Uncertain significance rs886049037 GRCh38 Chromosome 12, 121856613: 121856613
28 HPD NM_002150.2(HPD): c.211C> G (p.Leu71Val) single nucleotide variant Uncertain significance rs886049037 GRCh37 Chromosome 12, 122294519: 122294519
29 HPD NM_002150.2(HPD): c.836G> A (p.Arg279His) single nucleotide variant Likely benign rs140144597 GRCh37 Chromosome 12, 122281734: 122281734
30 HPD NM_002150.2(HPD): c.836G> A (p.Arg279His) single nucleotide variant Likely benign rs140144597 GRCh38 Chromosome 12, 121843828: 121843828
31 HPD NM_002150.2(HPD): c.94-6A> T single nucleotide variant Benign rs2707072 GRCh38 Chromosome 12, 121857438: 121857438
32 HPD NM_002150.2(HPD): c.94-6A> T single nucleotide variant Benign rs2707072 GRCh37 Chromosome 12, 122295344: 122295344
33 HPD NM_001171993.1(HPD): c.-115+52A> G single nucleotide variant Likely benign rs199549271 GRCh38 Chromosome 12, 121858873: 121858873
34 HPD NM_001171993.1(HPD): c.-115+52A> G single nucleotide variant Likely benign rs199549271 GRCh37 Chromosome 12, 122296779: 122296779
35 HPD NM_001171993.1(HPD): c.-115+47G> A single nucleotide variant Benign rs3741591 GRCh38 Chromosome 12, 121858878: 121858878
36 HPD NM_001171993.1(HPD): c.-115+47G> A single nucleotide variant Benign rs3741591 GRCh37 Chromosome 12, 122296784: 122296784
37 HPD NM_002150.2(HPD): c.813C> T (p.Thr271=) single nucleotide variant Benign rs144416002 GRCh37 Chromosome 12, 122284786: 122284786
38 HPD NM_002150.2(HPD): c.813C> T (p.Thr271=) single nucleotide variant Benign rs144416002 GRCh38 Chromosome 12, 121846880: 121846880
39 HPD NM_002150.2(HPD): c.499G> A (p.Asp167Asn) single nucleotide variant Benign/Likely benign rs74820788 GRCh37 Chromosome 12, 122287612: 122287612
40 HPD NM_002150.2(HPD): c.499G> A (p.Asp167Asn) single nucleotide variant Benign/Likely benign rs74820788 GRCh38 Chromosome 12, 121849706: 121849706
41 HPD NC_000012.12: g.(?_121843690)_(121847234_?)del deletion Pathogenic GRCh38 Chromosome 12, 121843690: 121847234
42 HPD NC_000012.12: g.(?_121843690)_(121847234_?)del deletion Pathogenic GRCh37 Chromosome 12, 122281596: 122285140
43 HPD NM_002150.2(HPD): c.760-7C> T single nucleotide variant Likely benign rs748133768 GRCh38 Chromosome 12, 121846940: 121846940
44 HPD NM_002150.2(HPD): c.760-7C> T single nucleotide variant Likely benign rs748133768 GRCh37 Chromosome 12, 122284846: 122284846
45 HPD NM_002150.2(HPD): c.109T> C (p.Cys37Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 122295323: 122295323
46 HPD NM_002150.2(HPD): c.109T> C (p.Cys37Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 121857417: 121857417
47 HPD NC_000012.12: g.(?_121839708)_(121840068_?)del deletion Uncertain significance GRCh37 Chromosome 12, 122277614: 122277974
48 HPD NC_000012.12: g.(?_121839708)_(121840068_?)del deletion Uncertain significance GRCh38 Chromosome 12, 121839708: 121840068
49 HPD NM_002150.2(HPD): c.1151delT (p.Met384Argfs) deletion Uncertain significance GRCh38 Chromosome 12, 121839759: 121839759
50 HPD NM_002150.2(HPD): c.1151delT (p.Met384Argfs) deletion Uncertain significance GRCh37 Chromosome 12, 122277665: 122277665

Expression for Hawkinsinuria

Search GEO for disease gene expression data for Hawkinsinuria.

Pathways for Hawkinsinuria

GO Terms for Hawkinsinuria

Sources for Hawkinsinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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71 TGDB
72 Tocris
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74 UMLS via Orphanet
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