Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, AND SEVERE OCULAR INVOLVEMENT
MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
FHHNC WITH SEVERE OCULAR INVOLVEMENT
HOMG5
Meier-Blumberg-Imahorn syndrome
Hypercalciuria - bilateral macular coloboma
Number of Symptoms 22
OrphanetNr: 2196
OMIM Id: 248190
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Colobomatous and areolar dystrophy
 -Rare eye disease
 -Rare genetic disease
Familial primary hypomagnesemia with hypercalcuria
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0002150) Hypercalciuria 45 / 7739
2
 (HPO:0005567) Renal magnesium wasting 5 / 7739
3
 (HPO:0012608) Hypermagnesiuria 3 / 7739
4
 (HPO:0000010) Recurrent urinary tract infections 56 / 7739
5
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
6
 (HPO:0000112) Nephropathy Very frequent [Orphanet] 92 / 7739
7
 (HPO:0012622) Chronic kidney disease 32 / 7739
8
 (HPO:0000787) Nephrolithiasis Very frequent [Orphanet] 78 / 7739
9
 (HPO:0012637) Renal calcium wasting 2 / 7739
10
 (HPO:0000121) Nephrocalcinosis 57 / 7739
11
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
12
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
13
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
14
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
15
 (HPO:0001116) Macular coloboma 6 / 7739
16
 (HPO:0000547) Tapetoretinal degeneration 11 / 7739
17
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
18
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
19
 (HPO:0100530) Abnormality of calcium-phosphate metabolism Very frequent [Orphanet] 12 / 7739
20
 (HPO:0002917) Hypomagnesemia 19 / 7739
21
 (OMIM) Normal serum calcium 9 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In the son and daughter of consanguineous parents, Meier et al. (1979) described nephrocalcinosis with idiopathic hypercalciuria dating from the first years of life and bilateral chorioretinal 'scars' in the macula interpreted as colobomata. Nystagmus and malignant myopia ...
Molecular genetics OMIM Konrad et al. (2006) demonstrated 2 different homozygous missense mutations in the CLDN19 gene (610036) in families with renal magnesium wasting, renal failure, and severe ocular involvement. In 7 of 8 Spanish/Hispanic families they found a gly20-to-asp mutation ...