HYPERVITAMINOSIS A, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 240150
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:0000083) Renal insufficiency 232 / 7739
2
 (HPO:0001085) Papilledema 31 / 7739
3
 (HPO:0002516) Increased intracranial pressure 47 / 7739
4
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
5
 (HPO:0002018) Nausea 44 / 7739
6
 (HPO:0001541) Ascites 94 / 7739
7
 (HPO:0001392) Abnormality of the liver 28 / 7739
8
 (HPO:0007418) Alopecia totalis 6 / 7739
9
 (HPO:0003256) Abnormality of the coagulation cascade 19 / 7739
10
 (HPO:0003072) Hypercalcemia 36 / 7739
11
 (OMIM) Periosteal new bone formation 2 / 7739
12
 (OMIM) Splayed cranial sutures 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Erythematous, exfoliative rash 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: