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 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:

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® ⁵⁷ 140350

MeSH ⁴⁴ C535845 D020176

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

SNOMED-CT via HPO ⁶⁸ 247546006 263681008 36440009 more

UMLS ⁷⁰ C2931042

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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...

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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 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:

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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)

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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

Bone, Heart

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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	El Khatib H...Rajab M	30984715	2019
2	Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. ⁵⁷ ⁶ ⁶¹	Item CB...Bodamer OA	17560158	2007
3	Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. ⁵⁷ ⁶ ⁶¹	Tomoeda K...Endo F	11073718	2000
4	Hawkinsinuria in two families. ⁶¹ ⁶ ⁵⁷	Borden M...Scott CR	1519651	1992
5	A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother. ⁶ ⁵⁷	Niederwieser A...Danks DM	858207	1977
6	A new form of prolonged transient tyrosinemia presenting with severe metabolic acidosis. ⁶ ⁵⁷	Danks DM...Rogers J	1130176	1975
7	Long-term follow up of a new case of hawkinsinuria. ⁵⁷ ⁶¹	Lehnert W...van den Berg GB	10412819	1999
8	Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. ⁵⁷ ⁶¹	Wilcken B...Halpern B	7278885	1981
9	Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine. ⁶¹ ²⁰	Gomez-Ospina N...Cowan TM	27488560	2016
10	An inborn defect in the metabolism of tyrosine in infants on a normal diet. ⁵⁷	Bloxam HR...Woolf LI	16748849	1960
11	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
12	Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review. ⁶¹	Cruz-Camino H...Cantu-Reyna C	31342835	2020
13	In-Silico analysis of missense SNPs in Human HPPD gene associated with Tyrosinemia type III and Hawkinsinuria. ⁶¹	Naveed M...Mehboob MZ	31054541	2019
14	Qualitative urinary organic acid analysis: 10 years of quality assurance. ⁶¹	Peters V...Langhans CD	27146437	2016
15	Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment. ⁶¹	Thodi G...Loukas YL	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	Wojtowicz P...Adam T	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	Brownlee JM...Moran GR	20677779	2010
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	PubMed IDs
1	HPD	4-Hydroxyphenylpyruvate Dioxygenase	Protein Coding	1069.86	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11073718 17560158
2	FAH	Fumarylacetoacetate Hydrolase	Protein Coding	6.86	DISEASES inferred ¹⁵
3	OPLAH	5-Oxoprolinase, ATP-Hydrolysing	Protein Coding	6.77	DISEASES inferred ¹⁵
4	PPIL2	Peptidylprolyl Isomerase Like 2	Protein Coding	6.69	DISEASES inferred ¹⁵
5	TAT	Tyrosine Aminotransferase	Protein Coding	5.79	DISEASES inferred ¹⁵
6	PRCC	Proline Rich Mitotic Checkpoint Control Factor	Protein Coding	5.72	DISEASES inferred ¹⁵
7	CYLC1	Cylicin 1	Protein Coding	5.53	DISEASES inferred ¹⁵
8	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	5.15	DISEASES inferred ¹⁵

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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

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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	Renal cell carcinoma ³⁶	10.99	PRCC ARAF
4	Phenylalanine metabolism ³⁶ Show member pathways aspartate biosynthesis ¹ L-cysteine degradation II ¹ Phenylalanine, tyrosine and tryptophan biosynthesis ³⁶ Tyrosine metabolism ³⁶ Tyrosine metabolism p.1 (dopamine) ²³	10.7	TAT HPD FAH

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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

Sources for Hawkinsinuria

¹ BioSystems

² BitterDB

³ CDC

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⁵ ClinicalTrials

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⁸ Cochrane Library

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¹⁰ dbSNP

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²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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