HRPTTN
MCID: HYP831
MIFTS: 25

Hyperparathyroidism, Transient Neonatal (HRPTTN)

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

Aliases & Classifications for Hyperparathyroidism, Transient Neonatal

MalaCards integrated aliases for Hyperparathyroidism, Transient Neonatal:

Name: Hyperparathyroidism, Transient Neonatal 57 72 29 6
Hrpttn 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
hyperparathyroidism, transient neonatal:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperparathyroidism, Transient Neonatal

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Hyperparathyroidism, Transient Neonatal, is also known as hrpttn. An important gene associated with Hyperparathyroidism, Transient Neonatal is TRPV6 (Transient Receptor Potential Cation Channel Subfamily V Member 6). Affiliated tissues include placenta, bone and lung, and related phenotypes are delayed speech and language development and osteopenia

UniProtKB/Swiss-Prot : 72 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

Symptoms & Phenotypes for Hyperparathyroidism, Transient Neonatal

Human phenotypes related to Hyperparathyroidism, Transient Neonatal:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 very rare (1%) HP:0000750
2 osteopenia 31 HP:0000938
3 motor delay 31 HP:0001270
4 polyhydramnios 31 HP:0001561
5 narrow chest 31 HP:0000774
6 feeding difficulties 31 HP:0011968
7 respiratory distress 31 HP:0002098
8 thin ribs 31 HP:0000883
9 femoral bowing 31 HP:0002980
10 short ribs 31 HP:0000773
11 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
motor delay
language delay (in some patients)

Chest External Features:
narrow chest

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

Laboratory Abnormalities:
elevated alkaline phosphatase
elevated 1,25-dihydroxyvitamin d
normal or low calcium
normal phosphorus
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 (Updated 20-May-2021)

Drugs & Therapeutics for Hyperparathyroidism, Transient Neonatal

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

Genetic Tests for Hyperparathyroidism, Transient Neonatal

Genetic tests related to Hyperparathyroidism, Transient Neonatal:

# Genetic test Affiliating Genes
1 Hyperparathyroidism, Transient Neonatal 29 TRPV6

Anatomical Context for Hyperparathyroidism, Transient Neonatal

MalaCards organs/tissues related to Hyperparathyroidism, Transient Neonatal:

40
Placenta, Bone, Lung

Publications for Hyperparathyroidism, Transient Neonatal

Articles related to Hyperparathyroidism, Transient Neonatal:

# Title Authors PMID Year
1
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism. 6 57
29861107 2018
2
TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism. 6
30820485 2019
3
Opening of the human epithelial calcium channel TRPV6. 6
29258289 2018
4
Swapping of transmembrane domains in the epithelial calcium channel TRPV6. 6
28878326 2017
5
Crystal structure of the epithelial calcium channel TRPV6. 6
27296226 2016

Variations for Hyperparathyroidism, Transient Neonatal

ClinVar genetic disease variations for Hyperparathyroidism, Transient Neonatal:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV6 NM_018646.6(TRPV6):c.978_979del (p.Gly327_Asp328insTer) Deletion Pathogenic 590769 rs1342435095 GRCh37: 7:142573561-142573562
GRCh38: 7:142875808-142875809
2 TRPV6 NM_018646.6(TRPV6):c.607+5G>A SNV Pathogenic 590770 rs1200458339 GRCh37: 7:142574890-142574890
GRCh38: 7:142877137-142877137
3 TRPV6 NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs) Duplication Pathogenic 590765 rs766719790 GRCh37: 7:142574968-142574969
GRCh38: 7:142877215-142877216
4 TRPV6 NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) SNV Likely pathogenic 590766 rs529924080 GRCh37: 7:142574530-142574530
GRCh38: 7:142876777-142876777
5 TRPV6 NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) SNV Likely pathogenic 590767 rs1281361203 GRCh37: 7:142572886-142572886
GRCh38: 7:142875133-142875133
6 TRPV6 NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) SNV Likely pathogenic 590768 rs759393722 GRCh37: 7:142572711-142572711
GRCh38: 7:142874958-142874958
7 TRPV6 NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr) SNV Likely pathogenic 692130 rs1586190048 GRCh37: 7:142574563-142574563
GRCh38: 7:142876810-142876810
8 TRPV6 NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg) SNV Likely pathogenic 692131 rs1327315227 GRCh37: 7:142572878-142572878
GRCh38: 7:142875125-142875125
9 TRPV6 NM_018646.6(TRPV6):c.1447C>T (p.Arg483Trp) SNV Likely pathogenic 692132 rs755916513 GRCh37: 7:142572369-142572369
GRCh38: 7:142874616-142874616
10 TRPV6 NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys) SNV Likely pathogenic 932914 GRCh37: 7:142571463-142571463
GRCh38: 7:142873710-142873710
11 TRPV6 NM_018646.6(TRPV6):c.1744G>A (p.Asp582Asn) SNV Uncertain significance 992367 GRCh37: 7:142571365-142571365
GRCh38: 7:142873612-142873612
12 TRPV6 NM_018646.6(TRPV6):c.524C>T (p.Ala175Val) SNV Uncertain significance 1028603 GRCh37: 7:142574978-142574978
GRCh38: 7:142877225-142877225
13 TRPV6 NM_018646.6(TRPV6):c.713C>G (p.Thr238Arg) SNV Uncertain significance 1028604 GRCh37: 7:142574330-142574330
GRCh38: 7:142876577-142876577

UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism, Transient Neonatal:

72
# Symbol AA change Variation ID SNP ID
1 TRPV6 p.Cys212Tyr VAR_081866
2 TRPV6 p.Ile223Thr VAR_081867
3 TRPV6 p.Arg425Gln VAR_081868
4 TRPV6 p.Gly428Arg VAR_081869
5 TRPV6 p.Gly451Glu VAR_081870
6 TRPV6 p.Arg483Trp VAR_081871

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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