HRPTTN
MCID: HYP831
MIFTS: 17

Hyperparathyroidism, Transient Neonatal (HRPTTN)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Hyperparathyroidism, Transient Neonatal

MalaCards integrated aliases for Hyperparathyroidism, Transient Neonatal:

Name: Hyperparathyroidism, Transient Neonatal 58 76 6
Hrpttn 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
skeletal anomalies detected prenatally on third trimester ultrasound
skeletal defects resolve in the first few years of life


Classifications:



External Ids:

OMIM 58 618188
MeSH 45 D006961

Summaries for Hyperparathyroidism, Transient Neonatal

OMIM : 58 Transient neonatal hyperparathyroidism is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age (Suzuki et al., 2018). (618188)

MalaCards based summary : Hyperparathyroidism, Transient Neonatal, also known as hrpttn, is related to hyperparathyroidism. An important gene associated with Hyperparathyroidism, Transient Neonatal is TRPV6 (Transient Receptor Potential Cation Channel Subfamily V Member 6). Affiliated tissues include bone and lung.

UniProtKB/Swiss-Prot : 76 Hyperparathyroidism, transient neonatal: An autosomal recessive disease characterized by impaired transplacental maternal-fetal transport of calcium, high serum PTH levels and signs of metabolic bone disease in the neonatal period. Skeletal anomalies include generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. Affected individuals experience postnatal respiratory and feeding difficulties. The condition improves within a short time after birth once calcium is provided orally.

Related Diseases for Hyperparathyroidism, Transient Neonatal

Diseases in the Hyperparathyroidism, Neonatal Severe family:

Hyperparathyroidism, Transient Neonatal

Diseases related to Hyperparathyroidism, Transient Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 10.2

Symptoms & Phenotypes for Hyperparathyroidism, Transient Neonatal

Symptoms via clinical synopsis from OMIM:

58
Chest External Features:
narrow chest

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
short ribs
healing prenatal rib fractures
multiple rib deformities

Skeletal Limbs:
femoral bowing
short long bones (in some patients)
long bone fractures (in some patients)

Skeletal:
generalized osteopenia

Respiratory Lung:
respiratory distress at birth
small lung volumes

Neurologic Central Nervous System:
motor delay
language delay (in some patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Laboratory Abnormalities:
elevated alkaline phosphatase
normal or low calcium
normal phosphorus
elevated 1,25-dihydroxyvitamin d
low 25-oh vitamin d

Endocrine Features:
elevated parathyroid hormone

Abdomen Gastrointestinal:
poor feeding (requiring feeding tube in some patients)

Clinical features from OMIM:

618188

Drugs & Therapeutics for Hyperparathyroidism, Transient Neonatal

Search Clinical Trials , NIH Clinical Center for Hyperparathyroidism, Transient Neonatal

Genetic Tests for Hyperparathyroidism, Transient Neonatal

Anatomical Context for Hyperparathyroidism, Transient Neonatal

MalaCards organs/tissues related to Hyperparathyroidism, Transient Neonatal:

42
Bone, Lung

Publications for Hyperparathyroidism, Transient Neonatal

Variations for Hyperparathyroidism, Transient Neonatal

ClinVar genetic disease variations for Hyperparathyroidism, Transient Neonatal:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV6 NM_018646.5(TRPV6): c.530_533dup (p.Arg?Cysfs) duplication Pathogenic GRCh37 Chromosome 7, 142574969: 142574972
2 TRPV6 NM_018646.5(TRPV6): c.530_533dup (p.Arg?Cysfs) duplication Pathogenic GRCh38 Chromosome 7, 142877216: 142877219
3 TRPV6 NM_018646.5(TRPV6): c.668T> C (p.Ile?Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 142574530: 142574530
4 TRPV6 NM_018646.5(TRPV6): c.668T> C (p.Ile?Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 142876777: 142876777
5 TRPV6 NM_018646.5(TRPV6): c.1274G> A (p.Arg?Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 142572886: 142572886
6 TRPV6 NM_018646.5(TRPV6): c.1274G> A (p.Arg?Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 142875133: 142875133
7 TRPV6 NM_018646.5(TRPV6): c.1352G> A (p.Gly?Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 142572711: 142572711
8 TRPV6 NM_018646.5(TRPV6): c.1352G> A (p.Gly?Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 142874958: 142874958
9 TRPV6 NM_018646.5(TRPV6): c.978_979del (p.Asp?Terfs) deletion Pathogenic GRCh38 Chromosome 7, 142875808: 142875809
10 TRPV6 NM_018646.5(TRPV6): c.978_979del (p.Asp?Terfs) deletion Pathogenic GRCh37 Chromosome 7, 142573561: 142573562
11 TRPV6 NM_018646.5(TRPV6): c.607+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 7, 142574890: 142574890
12 TRPV6 NM_018646.5(TRPV6): c.607+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 7, 142877137: 142877137

Expression for Hyperparathyroidism, Transient Neonatal

Search GEO for disease gene expression data for Hyperparathyroidism, Transient Neonatal.

Pathways for Hyperparathyroidism, Transient Neonatal

GO Terms for Hyperparathyroidism, Transient Neonatal

Sources for Hyperparathyroidism, Transient Neonatal

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70 SNOMED-CT via HPO
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72 TGDB
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74 UMLS
75 UMLS via Orphanet
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