Hawkinsinuria

General Information (adopted from Orphanet):

Synonyms, Signs: 4-hydroxyphenylpyruvic acid dioxygenase deficiency
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-HPPD deficiency
Number of Symptoms 18
OrphanetNr: 2118
OMIM Id: 140350
ICD-10: E70.2
UMLs: C2931042
MeSH: C535845
MedDRA:
Snomed: 414380008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
26226126 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of tyrosine metabolism
 -Rare genetic disease

Comment:

A heterozygous missense mutation predicting an Ala to Thr change at codon 33 (A33T) was found in the HPD gene in the two patients with hawkinsinuria (PMID:11073718). The N241S mutation of HPD gene was presumed to be causative for Hawkinsinuria (PMID:20677779).

Symptom Information: Sort by abundance 

1
(HPO:0001992) Organic aciduria Very frequent [Orphanet] 16602095 IBIS 28 / 7739
2
(HPO:0002209) Sparse scalp hair Very frequent [Orphanet] 11073718 IBIS 59 / 7739
3
(HPO:0002013) Vomiting 10412819; 20677779 IBIS 191 / 7739
4
(HPO:0002014) Diarrhea 20677779 IBIS 225 / 7739
5
(HPO:0011968) Feeding difficulties Very frequent [Orphanet] 10412819 IBIS 240 / 7739
6
(HPO:0001508) Failure to thrive Very frequent [Orphanet] 16602095 IBIS 454 / 7739
7
(HPO:0001510) Growth delay Very frequent [Orphanet] 10412819 IBIS 295 / 7739
8
(HPO:0002213) Fine hair Very frequent [Orphanet] 11073718 IBIS 77 / 7739
9
(HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 20677779 IBIS 92 / 7739
10
(HPO:0000969) Edema 11073718 IBIS 117 / 7739
11
(HPO:0003161) 4-Hydroxyphenylpyruvic aciduria 10412819 IBIS 4 / 7739
12
(HPO:0003231) Hypertyrosinemia 16602095 IBIS 8 / 7739
13
(HPO:0001942) Metabolic acidosis 10412819 IBIS 81 / 7739
14
(HPO:0003607) 4-Hydroxyphenylacetic aciduria 20677779 IBIS 3 / 7739
15
(HPO:0003637) Reduced 4-Hydroxyphenylpyruvate dioxygenase activity 16602095 IBIS 3 / 7739
16
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 11073718 IBIS 990 / 7739
17
(OMIM) 4-hydroxyphenylactic aciduria 20677779 IBIS 1 / 7739
18
(OMIM) 4-hydroxycyclohexylacetic aciduria (adults) 10412819 IBIS 1 / 7739

Associated genes:

HPD;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Niederwieser et al. (1977) identified a new sulfur amino acid in the urine of a girl with prolonged tyrosinuria and her mother (reported previously by Danks et al., 1975). The new amino acid, called hawkinsin, was identified as ...
Molecular genetics OMIM In the original patient with hawkinsinuria described by Danks et al. (1975) and Niederwieser et al. (1977) and in an American patient described by Borden et al. (1992), Tomoeda et al. (2000) found a heterozygous ala33-to-thr mutation in ...