Hawkinsinuria disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HAWK MCID: HWK001 MIFTS: 42	Hawkinsinuria (HAWK) Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Disorders of tyrosine metabolism

Orphanet: ⁵⁸

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0111362

OMIM ⁵⁶ 140350

MeSH ⁴³ C535845 D020176

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

SNOMED-CT via HPO ⁶⁸ 247546006 263681008 36440009 more

UMLS ⁷¹ C2931042

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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...

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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:

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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

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Drugs & Therapeutics for Hawkinsinuria

Search Clinical Trials , NIH Clinical Center for Hawkinsinuria

Cochrane evidence based reviews: hawkinsinuria

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Genetic Tests for Hawkinsinuria

Genetic tests related to Hawkinsinuria:

#	Genetic test	Affiliating Genes
1	Hawkinsinuria ²⁹	HPD

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Anatomical Context for Hawkinsinuria

MalaCards organs/tissues related to Hawkinsinuria:

⁴⁰

Breast

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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	Tomoeda K...Endo F	11073718	2000
2	Hawkinsinuria in two families. ⁶¹ ⁵⁶ ⁶	Borden M...Scott CR	1519651	1992
3	A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother. ⁶ ⁵⁶	Niederwieser A...Danks DM	858207	1977
4	A new form of prolonged transient tyrosinemia presenting with severe metabolic acidosis. ⁶ ⁵⁶	Danks DM...Rogers J	1130176	1975
5	Long-term follow up of a new case of hawkinsinuria. ⁵⁶ ⁶¹	Lehnert W...van den Berg GB	10412819	1999
6	Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. ⁶¹ ⁵⁶	Wilcken B...Halpern B	7278885	1981
7	Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine. ⁶¹ ⁵²	Gomez-Ospina N...Cowan TM	27488560	2016
8	An inborn defect in the metabolism of tyrosine in infants on a normal diet. ⁵⁶	Bloxam HR...Woolf LI	16748849	1960
9	Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS). ⁶¹	Zhao D...Jia L	32109208	2020
10	Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review. ⁶¹	Cruz-Camino H...Cantu-Reyna C	31342835	2019
11	In-Silico analysis of missense SNPs in Human HPPD gene associated with Tyrosinemia type III and Hawkinsinuria. ⁶¹	Naveed M...Mehboob MZ	31054541	2019
12	Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy. ⁶¹	El Khatib H...Rajab M	30984715	2019
13	Qualitative urinary organic acid analysis: 10 years of quality assurance. ⁶¹	Peters V...Langhans CD	27146437	2016
14	Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment. ⁶¹	Thodi G...Loukas YL	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	Wojtowicz P...Adam T	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	Brownlee JM...Moran GR	20677779	2010
17	Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. ⁶¹	Item CB...Bodamer OA	17560158	2007
18	Animal models reveal pathophysiologies of tyrosinemias. ⁶¹	Endo F...Nakamura K	12771366	2003
19	[Hawkinsinuria]. ⁶¹	Endo F	9590009	1998
20	Hawkinsinuria--identification of quinolacetic acid and pyroglutamic acid during an acidotic phase. ⁶¹	Hocart CH...Wong CO	6619234	1983

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Genes for Hawkinsinuria

Genes related to Hawkinsinuria (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HPD	4-Hydroxyphenylpyruvate Dioxygenase	Protein Coding	1069.27	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	1130176 11073718 1519651 (more) 858207
2	FAH	Fumarylacetoacetate Hydrolase	Protein Coding	6.83	DISEASES inferred ¹⁵
3	PPIL2	Peptidylprolyl Isomerase Like 2	Protein Coding	6.68	DISEASES inferred ¹⁵
4	OPLAH	5-Oxoprolinase, ATP-Hydrolysing	Protein Coding	6.67	DISEASES inferred ¹⁵
5	TAT	Tyrosine Aminotransferase	Protein Coding	5.71	DISEASES inferred ¹⁵
6	PRCC	Proline Rich Mitotic Checkpoint Control Factor	Protein Coding	5.27	DISEASES inferred ¹⁵
7	HNRNPA2B1	Heterogeneous Nuclear Ribonucleoprotein A2/B1	Protein Coding	5.26	DISEASES inferred ¹⁵
8	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	5.1	DISEASES inferred ¹⁵

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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_?)del	deletion	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>C	SNV	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>T	SNV	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>T	SNV	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>T	SNV	Uncertain significance	882570		12:122277432-122277432	12:121839526-121839526
21	HPD	NM_002150.3(HPD):c.518+3G>A	SNV	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_?)del	deletion	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>T	SNV	Uncertain significance	882571		12:122277444-122277444	12:121839538-121839538
33	HPD	NM_002150.3(HPD):c.*82T>C	SNV	Uncertain significance	883352		12:122277552-122277552	12:121839646-121839646
34	HPD	NM_002150.3(HPD):c.*69C>T	SNV	Uncertain significance	883353		12:122277565-122277565	12:121839659-121839659
35	HPD	NM_002150.3(HPD):c.*65A>G	SNV	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_?)del	deletion	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>T	SNV	Likely benign	529469	rs748133768	12:122284846-122284846	12:121846940-121846940
44	HPD	NM_002150.3(HPD):c.955-7C>G	SNV	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>G	SNV	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

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Expression for Hawkinsinuria

Search GEO for disease gene expression data for Hawkinsinuria.

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Pathways for Hawkinsinuria

Pathways related to Hawkinsinuria according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Amino Acid metabolism ¹	11.22	TAT FAH
2	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism ⁶⁵ Show member pathways 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA ¹ 2-oxoglutarate decarboxylation to succinyl-CoA ¹ 4-hydroxybenzoate biosynthesis ¹ L-kynurenine degradation ¹ Lysine catabolism ⁶⁵ lysine degradation I (saccharopine pathway) ¹ Phenylalanine and tyrosine catabolism ⁶⁵ Proline catabolism ⁶⁵ proline degradation ¹ Tryptophan catabolism ⁶⁵ tryptophan degradation ¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ¹ tyrosine degradation ¹	11.22	TAT HPD FAH
3	Tyrosine metabolism ³⁶ Show member pathways Phenylalanine metabolism ³⁶ Phenylalanine, tyrosine and tryptophan biosynthesis ³⁶ Tyrosine metabolism p.1 (dopamine) ²²	10.68	TAT HPD FAH
4	Ubiquinol biosynthesis ⁶⁵ Show member pathways ubiquinol-10 biosynthesis ¹ Ubiquinone and other terpenoid-quinone biosynthesis ³⁶	10.52	TAT HPD

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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

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hawkinsinuria (HAWK)

Aliases & Classifications for Hawkinsinuria

MalaCards integrated aliases for Hawkinsinuria:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hawkinsinuria

Related Diseases for Hawkinsinuria

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

Graphical network of the top 20 diseases related to Hawkinsinuria:

Symptoms & Phenotypes for Hawkinsinuria

Human phenotypes related to Hawkinsinuria:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Hawkinsinuria

Cochrane evidence based reviews: hawkinsinuria

Genetic Tests for Hawkinsinuria

Genetic tests related to Hawkinsinuria:

Anatomical Context for Hawkinsinuria

MalaCards organs/tissues related to Hawkinsinuria:

Publications for Hawkinsinuria

Articles related to Hawkinsinuria:

Genes for Hawkinsinuria

Genes related to Hawkinsinuria (1 elite genes):

Variations for Hawkinsinuria

ClinVar genetic disease variations for Hawkinsinuria:

Expression for Hawkinsinuria

Pathways for Hawkinsinuria

Pathways related to Hawkinsinuria according to GeneCards Suite gene sharing:

GO Terms for Hawkinsinuria

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

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

Sources for Hawkinsinuria