Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

General Information (adopted from Orphanet):

Synonyms, Signs: PARATHYROID GLANDS, AGENESIS OF
HYPX
Number of Symptoms 16
OrphanetNr: 2239
OMIM Id: 307700
ICD-10: E20.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
2
 (HPO:0000464) Abnormality of the neck 31 / 7739
3
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
4
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
5
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
6
 (HPO:0000829) Hypoparathyroidism Very frequent [Orphanet] 22 / 7739
7
 (HPO:0008198) Congenital hypoparathyroidism 3 / 7739
8
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
9
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
10
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
11
 (HPO:0100530) Abnormality of calcium-phosphate metabolism Very frequent [Orphanet] 12 / 7739
12
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
13
 (HPO:0001281) Tetany 20 / 7739
14
 (HPO:0001417) X-linked inheritance 173 / 7739
15
 (OMIM) Neonatal true idiopathic hypoparathyroidism 1 / 7739
16
 (OMIM) Absent parathyroid glands 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: