Hypertryptophanemia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 38
OrphanetNr: 2224
OMIM Id: 600627
ICD-10: E70.8
UMLs: C2931837
MeSH: C538393
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of tryptophan metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003361) Tryptophanuria 3 / 7739
2
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
3
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
4
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
5
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
6
 (HPO:0000505) Visual impairment 297 / 7739
7
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
8
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
9
 (HPO:0000718) Aggressive behavior 109 / 7739
10
 (HPO:0000712) Emotional lability 44 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0002815) Abnormality of the knee Frequent [Orphanet] 19 / 7739
13
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
14
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
15
 (HPO:0001555) Asymmetry of the thorax Frequent [Orphanet] 15 / 7739
16
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
17
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
18
 (HPO:0009811) Abnormality of the elbow Frequent [Orphanet] 30 / 7739
19
 (HPO:0001181) Adducted thumb 31 / 7739
20
 (HPO:0100490) Camptodactyly of finger 212 / 7739
21
 (HPO:0001763) Pes planus 176 / 7739
22
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
23
 (HPO:0001377) Limited elbow extension 38 / 7739
24
 (HPO:0002761) Generalized joint laxity 8 / 7739
25
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
26
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
27
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
28
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
29
 (OMIM) Stuttering 1 / 7739
30
 (OMIM) Widespread joint pains 1 / 7739
31
 (HPO:0030214) Hypersexuality 2 / 7739
32
 (OMIM) Adduction of thumbs 1 / 7739
33
 (OMIM) Slight contractures of distal IP finger and thumb joints 1 / 7739
34
 (OMIM) Aggressive outbursts 3 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
36
 (OMIM) Hypertryptophanemia 1 / 7739
37
 (OMIM) Defective vision 1 / 7739
38
 (OMIM) Ulnar drift of fingers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: