HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 23
OrphanetNr:
OMIM Id: 235830
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002927) Histidinuria 3 / 7739
2
 (HPO:0008666) Impaired histidine renal tubular absorption 1 / 7739
3
 (HPO:0000431) Wide nasal bridge 290 / 7739
4
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
5
 (HPO:0000343) Long philtrum 262 / 7739
6
 (HPO:0000319) Smooth philtrum 72 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
8
 (HPO:0000400) Macrotia 108 / 7739
9
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
10
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
11
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
14
 (HPO:0005844) Rounded middle phalanx of finger 1 / 7739
15
 (HPO:0001800) Hypoplastic toenails 74 / 7739
16
 (MedDRA:10071232) Protuberant ear 3 / 7739
17
 (OMIM) Short, rounded, abnormal-shaped middle phalanges 1 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Impaired histidine intestinal absorption 1 / 7739
20
 (OMIM) Short thick fingers 1 / 7739
21
 (OMIM) Short thick toes 1 / 7739
22
 (OMIM) Simple auricles 2 / 7739
23
 (OMIM) Long shallow philtrum 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: