Welcome to PhenoDis

Amelogenesis imperfecta - nephrocalcinosis

General Information (adopted from Orphanet):

Synonyms, Signs:	AMELOGENESIS IMPERFECTA, TYPE IG AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND NEPHROCALCINOSIS AI1G ERS
Number of Symptoms	22
OrphanetNr:	1031
OMIM Id:	204690
ICD-10:	K00.5
UMLs:	C0403549 C2931783
MeSH:	C538241
MedDRA:
Snomed:	109477002

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:

Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
-Rare developmental defect during embryogenesis
-Rare odontologic disease
Nephropathy secondary to a storage or other metabolic disease
-Rare genetic disease
-Rare renal disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000083)	Renal insufficiency		232 / 7739
2	(HPO:0011037)	Decreased urine output	Frequent [Orphanet]	47 / 7739
3	(HPO:0000103)	Polyuria		60 / 7739
4	(HPO:0004727)	Impaired renal concentrating ability		6 / 7739
5	(HPO:0000112)	Nephropathy	Very frequent [Orphanet]	92 / 7739
6	(HPO:0000121)	Nephrocalcinosis		57 / 7739
7	(HPO:0000805)	Enuresis		11 / 7739
8	(HPO:0006302)	Dagger-shaped pulp calcifications		1 / 7739
9	(HPO:0000212)	Gingival overgrowth		43 / 7739
10	(HPO:0000684)	Delayed eruption of teeth	Very frequent [Orphanet]	117 / 7739
11	(HPO:0011073)	Abnormality of dental color	Very frequent [Orphanet]	24 / 7739
12	(HPO:0000682)	Abnormality of dental enamel	Very frequent [Orphanet]	102 / 7739
13	(HPO:0000696)	Delayed eruption of permanent teeth		12 / 7739
14	(HPO:0000705)	Amelogenesis imperfecta		25 / 7739
15	(HPO:0001548)	Overgrowth		27 / 7739
16	(HPO:0100530)	Abnormality of calcium-phosphate metabolism	Very frequent [Orphanet]	12 / 7739
17	(OMIM)	Increased serum osteocalcin		1 / 7739
18	(OMIM)	Large follicles around developing teeth crowns		1 / 7739
19	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
20	(OMIM)	Decreased urinary calcium and phosphate excretion		1 / 7739
21	(OMIM)	Yellow-brown teeth		1 / 7739
22	(OMIM)	Amelogenesis imperfecta, hypoplastic		5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

MacGibbon (1972) reported a brother and sister with absent enamel, nephrocalcinosis, and apparently normal calcium metabolism. Lubinsky et al. (1985) also described an affected brother and sister, aged 11 and 9 years, respectively. The parents were not related. ... MacGibbon (1972) reported a brother and sister with absent enamel, nephrocalcinosis, and apparently normal calcium metabolism. Lubinsky et al. (1985) also described an affected brother and sister, aged 11 and 9 years, respectively. The parents were not related. Lifelong nocturnal enuresis, progressive punctate nephrocalcinosis and decreased calcium and phosphate excretion 'at rest' and after an acute load were features in addition to absent enamel. Increased serum osteocalcin and decreased urinary delta-carboxyglutamic acid suggested to Lubinsky et al. (1985) abnormality of vitamin K-dependent calcium binding proteins, although the authors recognized that the above findings could represent secondary changes. Witkop and Sauk (1976) and Witkop (1989) described an autosomal recessive form of enamel agenesis in which the tooth surface is rough, granular, and light yellow-brown. There is no contact between adjacent teeth and no radiographic evidence of enamel. Many teeth are unerupted and partially resorbed in the alveolus. The coronal dentin is covered with granular or agate-like cementum, and anterior open bite occurs frequently. Witkop (1989) suggested that this form of AI, which he designated type IG, may be the same as that described by Lubinsky et al. (1985). Hall et al. (1995) described a brother and sister with amelogenesis imperfecta and nephrocalcinosis. The sister also had bilateral pelvic calcifications adjacent to the internal iliac vessels. Renal biopsy revealed focal clusters of sclerosed glomeruli and interstitial infiltration with lymphocytes and plasma cells. Extensive investigations of calcium metabolism and excretion were normal. Normand de la Tranchade et al. (2003) described a 15-year-old girl with severe delay of eruption affecting the premolars, permanent canines, and molars. Intraoral examination revealed the presence of all primary teeth, except the maxillary and mandibular incisors and a mandibulary premolar, where permanent teeth had partially erupted. All the teeth were discolored light yellow, and the primary teeth were severely abraded. The permanent incisors had erupted by only 2 mm and were small and widely spaced. There was slight gingival enlargement. Orthopantomogram revealed a number of nonerupted permanent teeth, with well-developed roots and occasional intracoronal resorption. There were no supernumerary teeth and no agenesis. Intraoral radiographs showed the rarity of enamel on both primary and permanent dentition, and scan analysis showed numerous voluminous follicular cysts. Examination by light microscopy of a primary molar and incisor confirmed the absence of enamel. Small bilateral calcification foci in renal areas were seen on plain abdominal films, and medullary nephrocalcinosis was confirmed by renal ultrasound; subsequent investigation revealed slightly impaired renal function. The patient was of normal intelligence and had no other dysmorphic features, and no other family members were affected.

Symptoms & Signs

	Field	Query
	Disease
	Symptom