IllnessHypocalciuric hypercalcaemia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for hypokalziuric Hyperkalzemia comprising 7 guideline-curated core candudate genes and altogether 12 curated genes according to the clinical signs

HP1010

Number of genes

12 Accredited laboratory test

Examined sequence length

13,1 kb (Core-/Core-canditate-Genes)
16,0 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CASR	3237	601199	NM_000388.4	AD
CCND1	888	168461	NM_053056.3	AD
CDC73	1596	607393	NM_024529.5	AD
CDKN1B	597	600778	NM_004064.5	AD
GCM2	1521	603716	NM_004752.4	AD, AR
MEN1	1833	613733	NM_130799.2	AD
RET	3345	164761	NM_020975.6	AD
AP2S1	429	602242	NM_004069.6	AD
CDKN1A	495	116899	NM_078467.3	AD
CDKN2B	417	600431	NM_004936.4	AD
CDKN2C	507	603369	NM_001262.3	AD
GNA11	1080	139313	NM_002067.5	AD

Informations about the disease

Clinical Comment

Familial hypercalcemia and hypocalciuria (FHH) often do not cause any, sometimes only unspecific symptoms such as weakness, fatigue, polydipsia, very rarely pancreatitis or chondrocalciulosis. Type 1 FHH is common (mutations in the CASR gene); type 2 (GNA11 gene mutations); type 3 (AP2S1 mutations). All three types are inherited autosomal dominantly (with unknown penetrance). In rare cases, FHH can be caused if antibodies are produced without genetic involvement of the immune system, which attack the CaSR protein. Genetic tests can confirm the diagnosis of FHH, except in rare cases of autoimmune diseases. The differential diagnosis includes hyperparathyroidism and related diseases. The diagnosis rate is practically unknown because of the lack of symptoms. If there are no symptoms, treatment is usually unnecessary.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK459190/

Synonyms

Alias: Familial primary hyperparathyroidism
Alias: Familiärer primärer Hyperparathyreoidismus
Allelic: Colorectal cancer, susceptibility to (CCND1)
Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
Allelic: Hyperparathyroidism, neonatal (CASR)
Allelic: Hyperparathyroidism-jaw tumor syndrome (CDC73)
Allelic: Hypocalcemia, AD (CASR)
Allelic: Hypocalcemia, AD 2 (GNA11)
Allelic: Hypocalcemia, AD with Bartter syndrome (CASR)
Allelic: Hypoparathyroidism, familial isolated 2 (GCM2)
Allelic: Multiple myeloma, susceptibility to (CCND1)
Allelic: Parathyroid adenoma with cystic changes (CDC73)
Allelic: Parathyroid carcinoma (CDC73)
Allelic: von Hippel-Lindau syndrome, modifier of (CCND1)
Hyperparathyroidism 4 (GCM2)
Hyperparathyroidism, familial primary (CDC73)
Hypocalciuric hypercalcemia, type I (CASR)
Hypocalciuric hypercalcemia, type II (GNA11)
Hypocalciuric hypercalcemia, type III (AP2S1)
Multiple endocrine neoplasia (CDKN1A)
Multiple endocrine neoplasia (CDKN1C)
Multiple endocrine neoplasia (CDKN2B)
Multiple endocrine neoplasia (CDKN2C)
Multiple endocrine neoplasia 1 (MEN1)
Multiple endocrine neoplasia 4 (CDKN1B)
Parathyroid adenoma, somatic (MEN1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined