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Idiopathic hypercalcemia of infancy

MedGen UID:
120608
Concept ID:
C0268080
Disease or Syndrome
Synonyms: Hypercalcemia, Idiopathic, of Infancy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Idiopathic hypercalcemia of infancy (34225008)
 
OMIM®: 143880

Clinical features

Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Disease or Syndrome
A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Finding
Abnormally high level of calcium in the urine.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Elfin facies
MedGen UID:
87157
Concept ID:
C0332606
Sign or Symptom
This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
Formation of stones in the KIDNEY.
Infantile hypercalcemia
MedGen UID:
99194
Concept ID:
C0475732
Finding
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
A reduction in total body weight.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Thick lower lip vermilion
MedGen UID:
473520
Concept ID:
C2053437
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Recent clinical studies

Etiology

Deal JE, Snell MF, Barratt TM, Dillon MJ
J Pediatr 1992 Sep;121(3):378-84. PMID: 1517911

Diagnosis

Stanescu DE, Levine MA
J Pediatr 2013 Apr;162(4):752. doi: 10.1016/j.jpeds.2012.11.022. PMID: 23527844
Malek RS, Kelalis PP
J Urol 1975 Sep;114(3):441-3. PMID: 1095788
BAUMAN A, BAUMAN CG
N Y State J Med 1965 Jul 15;65:1910-7. PMID: 14338463

Therapy

Stanescu DE, Levine MA
J Pediatr 2013 Apr;162(4):752. doi: 10.1016/j.jpeds.2012.11.022. PMID: 23527844
Deal JE, Snell MF, Barratt TM, Dillon MJ
J Pediatr 1992 Sep;121(3):378-84. PMID: 1517911
Bliddal J, Dupont B, Melchior JC, Ottesen OE
Acta Paediatr Scand 1969 Nov;58(6):632-7. PMID: 5378351
Manios SG, Antener I
Acta Paediatr Scand 1966 Nov;55(6):600-8. PMID: 5972562

Prognosis

Deal JE, Snell MF, Barratt TM, Dillon MJ
J Pediatr 1992 Sep;121(3):378-84. PMID: 1517911
Malek RS, Kelalis PP
J Urol 1975 Sep;114(3):441-3. PMID: 1095788

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