Autosomal dominant hypocalcemia

General Information (adopted from Orphanet):

Synonyms, Signs: AD hypocalcemia
Number of Symptoms 26
OrphanetNr: 428
OMIM Id: 601198
615361
ICD-10: E20.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated hypoparathyroidism
 -Rare endocrine disease
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Frequent [Orphanet] 78 / 7739
2
 (HPO:0002150) Hypercalciuria Very frequent [Orphanet] 45 / 7739
3
 (HPO:0100851) Abnormal emotion/affect behavior Very frequent [Orphanet] 85 / 7739
4
 (HPO:0000763) Sensory neuropathy Very frequent [Orphanet] 78 / 7739
5
 (HPO:0002516) Increased intracranial pressure Occasional [Orphanet] 47 / 7739
6
 (HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
7
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
8
 (HPO:0004305) Involuntary movements Very frequent [Orphanet] 50 / 7739
9
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
10
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
11
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
12
 (HPO:0000964) Eczema Occasional [Orphanet] 81 / 7739
13
 (HPO:0007400) Irregular hyperpigmentation Occasional [Orphanet] 72 / 7739
14
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
15
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
16
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
17
 (HPO:0002615) Hypotension Frequent [Orphanet] 52 / 7739
18
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
19
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
20
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
21
 (HPO:0002905) Hyperphosphatemia Frequent [Orphanet] 18 / 7739
22
 (HPO:0002793) Abnormal pattern of respiration Frequent [Orphanet] 26 / 7739
23
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
24
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
25
 (HPO:0003394) Muscle cramps Very frequent [Orphanet] 106 / 7739
26
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: