Hypercalcemic tumoral calcinosis

General Information (adopted from Orphanet):

Synonyms, Signs: MORBUS TEUTSCHLAENDER
HYPEROSTOSIS WITH HYPERPHOSPHATEMIA
HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME
CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA
TEUTSCHLAENDER DISEASE, FAMILIAL
LIPOCALCINOGRANULOMATOSIS
TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC
CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA
GALNT3-CDG
HHS
PHPTC
HFTC
Number of Symptoms 34
OrphanetNr: 306661
OMIM Id: 211900
ICD-10: M11.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with skin involvement
 -Rare genetic disease
 -Rare skin disease
Disorder of O-N-acetylgalactosaminylglycan synthesis
 -Rare genetic disease
Tumoral calcinosis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000121) Nephrocalcinosis 57 / 7739
2
(HPO:0005572) Decreased renal tubular phosphate excretion 1 / 7739
3
(HPO:0005571) Increased renal tubular phosphate reabsorption 1 / 7739
4
(HPO:0000679) Taurodontia 27 / 7739
5
(HPO:0003771) Pulp stones 6 / 7739
6
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
7
(HPO:0007799) Conjunctival whitish salt-like deposits 1 / 7739
8
(HPO:0001102) Angioid streaks of the retina 11 / 7739
9
(HPO:0003881) Humeral sclerosis 1 / 7739
10
(HPO:0004934) Vascular calcification 3 / 7739
11
(HPO:0000951) Abnormality of the skin 147 / 7739
12
(HPO:0002905) Hyperphosphatemia 18 / 7739
13
(HPO:0003761) Calcinosis 12 / 7739
14
(OMIM) Obliterated tooth pulp cavities 1 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
(OMIM) Increased serum FGF23 1 / 7739
17
(OMIM) Radiography shows porotic changes 1 / 7739
18
(OMIM) Short blunt tooth roots 1 / 7739
19
(OMIM) Cortical hyperostosis 3 / 7739
20
(OMIM) Tumoral calcinosis 1 / 7739
21
(OMIM) Normal serum calcium 9 / 7739
22
(HPO:0003621) Juvenile onset 105 / 7739
23
(OMIM) Periosteal reaction 1 / 7739
24
(OMIM) Swirled radicular dentin deposits 1 / 7739
25
(OMIM) Deposition of calcium phosphate crystals in skin and subcutaneous tissues 1 / 7739
26
(OMIM) Normal serum parathyroid hormone (PTH) 2 / 7739
27
(OMIM) Ectopic periarticular calcified masses, painful (hip, elbow, shoulder) 1 / 7739
28
(OMIM) Calcinosis of the renal parenchyma 1 / 7739
29
(MedDRA:10010725) Conjunctival irritation 1 / 7739
30
(OMIM) Disturbed root development 1 / 7739
31
(OMIM) Normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol) 1 / 7739
32
(OMIM) Painful swellings of the long bones, acute, recurrent attacks 1 / 7739
33
(OMIM) Progressive deposition of basic calcium phosphate crystals 1 / 7739
34
(OMIM) Diaphysitis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral ...
Clinical Description OMIM Inclan et al. (1943) first gave the name 'tumoral calcinosis' to this condition, which was first described by Giard (1898) and then by Duret (1899). Ghormley (1942) reported multiple affected sibs.

Baldursson et al. (1969) observed ...

Molecular genetics OMIM - Mutation in the GALNT3 Gene

Topaz et al. (2004) studied the large Druze and African American kindreds with familial tumoral calcinosis described by Steinherz et al. (1985) and Slavin et al. (1993), respectively. They mapped ...