Classical phenylketonuria

General Information (adopted from Orphanet):

Synonyms, Signs: Classical PKU
Classic PKU
Classic phenylketonuria
Number of Symptoms 53
OrphanetNr: 79254
OMIM Id:
ICD-10: E70.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 1 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Phenylketonuria
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Concentrations above 1200 μmol/L are classified as classic phenylketonuria.

Symptom Information: Sort by abundance 

1
 (HPO:0003355) Aminoaciduria Very frequent [Orphanet] 24140048 IBIS 65 / 7739
2
 (HPO:0012088) Abnormal urinary odor Very frequent [Orphanet] 6616835 IBIS 1 / 7739
3
 (HPO:0000252) Microcephaly Frequent [Orphanet] 23157991 IBIS 832 / 7739
4
 (HPO:0002209) Sparse scalp hair Very frequent [Orphanet] 18759785 IBIS 59 / 7739
5
 (HPO:0000486) Strabismus 15995796 IBIS 576 / 7739
6
 (HPO:0011097) Epileptic spasms Frequent [Orphanet] 25417060 IBIS 45 / 7739
7
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 24140048 IBIS 140 / 7739
8
 (HPO:0000739) Anxiety Frequent [Orphanet] 24385074 IBIS 67 / 7739
9
 (HPO:0100543) Cognitive impairment 24385074 IBIS 230 / 7739
10
 (HPO:0003487) Babinski sign 19862469 IBIS 179 / 7739
11
 (HPO:0002354) Memory impairment Frequent [Orphanet] 23157991 IBIS 63 / 7739
12
 (HPO:0004466) Prolonged brainstem auditory evoked potentials 24140048 IBIS 3 / 7739
13
 (HPO:0002312) Clumsiness 15995796 IBIS 28 / 7739
14
 (HPO:0000716) Depression Frequent [Orphanet] 24385074 IBIS 99 / 7739
15
 (HPO:0007018) Attention deficit hyperactivity disorder Frequent [Orphanet] 24140048 IBIS 56 / 7739
16
 (HPO:0000718) Aggressive behavior Occasional [Orphanet] occasional [HPO] 23157991 IBIS 109 / 7739
17
 (HPO:0001250) Seizures Frequent [Orphanet] 23157991 IBIS 1245 / 7739
18
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 12955819; 17607414 IBIS 43 / 7739
19
 (HPO:0000737) Irritability Frequent [Orphanet] 23157991 IBIS 93 / 7739
20
 (HPO:0001328) Specific learning disability Very frequent [Orphanet] 23157991 IBIS 114 / 7739
21
 (HPO:0002063) Rigidity Frequent [Orphanet] 11552030 IBIS 92 / 7739
22
 (HPO:0002133) Status epilepticus Frequent [Orphanet] 25014052 IBIS 59 / 7739
23
 (HPO:0000741) Apathy Frequent [Orphanet] 23748994 IBIS 42 / 7739
24
 (HPO:0000756) Agoraphobia 20971365 IBIS 4 / 7739
25
 (HPO:0002121) Absence seizures Frequent [Orphanet] 25014052 IBIS 62 / 7739
26
 (HPO:0000742) Self-mutilation Occasional [Orphanet] occasional [HPO] 17607414 IBIS 27 / 7739
27
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] 24385074 IBIS 853 / 7739
28
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] 24385074 IBIS 1089 / 7739
29
 (HPO:0002313) Spastic paraparesis 11723206 IBIS 33 / 7739
30
 (HPO:0011203) EEG with abnormally slow frequencies 24140048 IBIS 1 / 7739
31
 (HPO:0001270) Motor delay Very frequent [Orphanet] 17092471 IBIS 322 / 7739
32
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 24385074 IBIS 212 / 7739
33
 (HPO:0011448) Ankle clonus 19862469 IBIS 31 / 7739
34
 (HPO:0001257) Spasticity Frequent [Orphanet] 17092471 IBIS 251 / 7739
35
 (HPO:0001337) Tremor Frequent [Orphanet] 15995796 IBIS 200 / 7739
36
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 10067268 IBIS 363 / 7739
37
 (HPO:0000735) Impaired social interactions 20971365 IBIS 20 / 7739
38
 (HPO:0001276) Hypertonia Frequent [Orphanet] 17092471 IBIS 317 / 7739
39
 (HPO:0000717) Autism Frequent [Orphanet] 23921282; 17092471 IBIS 108 / 7739
40
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 3344778 IBIS 89 / 7739
41
 (HPO:0100679) Lack of skin elasticity Occasional [Orphanet] 9870203 IBIS 29 / 7739
42
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 17607414; 25228517 IBIS 38 / 7739
43
 (HPO:0000976) Eczematoid dermatitis Frequent [Orphanet] typical [HPO] 24206931 IBIS 22 / 7739
44
 (HPO:0000964) Eczema Frequent [Orphanet] 9888332 IBIS 81 / 7739
45
 (HPO:0001051) Seborrheic dermatitis 9888332 IBIS 25 / 7739
46
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 24206931; 7564227 IBIS 219 / 7739
47
 (HPO:0000958) Dry skin 9870203 IBIS 152 / 7739
48
 (HPO:0001047) Atopic dermatitis Frequent [Orphanet] typical [HPO] 19718821 IBIS 20 / 7739
49
 (HPO:0004920) Phenylpyruvic acidemia hallmark 24140048 IBIS 3 / 7739
50
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 24385074 IBIS 45 / 7739
51
 (HPO:0001324) Muscle weakness 12955819 IBIS 859 / 7739
52
 (HPO:0002500) Abnormality of the cerebral white matter 20971365 IBIS 73 / 7739
53
 (HPO:0007266) Cerebral dysmyelination 20971365; 17931123 IBIS 13 / 7739

Associated genes:

PAH;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: