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Hawkinsinuria
1 OMIM reference -
1 associated gene
6 connected diseases
7 signs/symptoms
Disease Type of connection
Tyrosinemia type 3
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Multiple endocrine neoplasia type 1
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Synonym(s):
- 4-HPPD deficiency
- 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
- 4-hydroxyphenylpyruvic acid dioxygenase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C535845
Gene symbol UniProt reference OMIM reference
HPD P32754609695
Very frequent
- Autosomal dominant inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Organic acid metabolism anomalies

Frequent
- Hypotonia

Occasional
- Hypothyroidy