HRDS
MCID: HYP134
MIFTS: 54

Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRDS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

MalaCards integrated aliases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Name: Hypoparathyroidism-Retardation-Dysmorphism Syndrome 57 12 73 36 29 13 6 44 15 39 71
Sanjad-Sakati Syndrome 57 12 58 73 54
Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures 57 73
Hrd Syndrome 12 58
Hrds 57 73
Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay 57
Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome 58
Hypoparathyroidism with Short Stature, Mental Retardation and Seizures 12
Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 58
Richardson-Kirk Syndrome 58
Sss 58

Characteristics:

Orphanet epidemiological data:

58
sanjad-sakati syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
allelic to kenny-caffey syndrome type 1


HPO:

31
hypoparathyroidism-retardation-dysmorphism syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

KEGG : 36 Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia associated with hypoparathyroidism, prenatal and postnatal growth retardation, seizures, and facial anomalies. The dysmorphic features include deep-set eyes, depressed nasal bridge, thin upper lip, and ear anomalies.

MalaCards based summary : Hypoparathyroidism-Retardation-Dysmorphism Syndrome, also known as sanjad-sakati syndrome, is related to subclavian steal syndrome and kenny-caffey syndrome, type 1, and has symptoms including seizures An important gene associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome is TBCE (Tubulin Folding Cofactor E), and among its related pathways/superpathways are Metabolism of proteins and Chaperonin-mediated protein folding. The drugs Methotrexate and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, pancreas and pituitary, and related phenotypes are intellectual disability and delayed skeletal maturation

Disease Ontology : 12 A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has material basis in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3.

OMIM® : 57 HRDS is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay (summary by Padidela et al., 2009 and Ratbi et al., 2015). (241410) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Hypoparathyroidism-retardation-dysmorphism syndrome: An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism.

Wikipedia : 74 Sanjad-Sakati syndrome is a rare autosomal recessive genetic condition seen in offspring of Middle... more...

Related Diseases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 subclavian steal syndrome 31.7 TBCE FAM111A
2 kenny-caffey syndrome, type 1 30.8 TBCE FAM111A
3 hyperphosphatemia 29.9 PTH GCM2 CASR
4 hypoparathyroidism 29.7 TBCE PTH GCM2 FAM111A CASR
5 kenny-caffey syndrome 29.6 TUBA1B TBCE TBCB GCM2 FAM111A
6 sick sinus syndrome 11.4
7 hypoparathyroidism-intellectual disability-dysmorphism syndrome 11.3
8 sick sinus syndrome 2 11.2
9 stiff skin syndrome 11.2
10 sick sinus syndrome 1 11.0
11 sinus node disease and myopia 10.9
12 sick sinus syndrome 3 10.9
13 chronic atrial and intestinal dysrhythmia 10.9
14 autosomal recessive disease 10.3
15 dwarfism 10.3
16 hypogonadism 10.3
17 cardiac arrhythmia 10.2
18 hashimoto thyroiditis 10.2
19 visceral myopathy 10.2
20 strabismus 10.2
21 astigmatism 10.2
22 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
23 deficiency anemia 10.2
24 congenital hypothyroidism 10.2
25 tooth agenesis 10.2
26 intestinal pseudo-obstruction 10.2
27 urinary tract infection 10.2
28 monocular esotropia 10.2
29 microphthalmia 10.2
30 alternating exotropia 10.2
31 exotropia 10.2
32 status epilepticus 10.2
33 dental caries 10.2
34 macrocytic anemia 10.2
35 retinal vascular disease 10.2
36 superior mesenteric artery syndrome 10.2
37 myopathy 10.2
38 thyroiditis 10.2
39 mechanical strabismus 10.2
40 esotropia 10.2
41 acrocephalopolysyndactyly type iii 10.1
42 septooptic dysplasia 10.1
43 retinitis pigmentosa 11 10.1
44 alacrima, achalasia, and mental retardation syndrome 10.1
45 primary microcephaly 10.1
46 hypogonadotropic hypogonadism 10.1
47 microcephaly 10.1
48 hypothyroidism 10.1
49 neuroblastoma 10.1
50 hypoglycemia 10.1

Graphical network of the top 20 diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:



Diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Symptoms & Phenotypes for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Human phenotypes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
9 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
12 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
13 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
14 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
15 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
16 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
17 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
18 severe intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008846
19 hyperphosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002905
20 congenital hypoparathyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0008198
21 seizure 31 hallmark (90%) HP:0001250
22 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
23 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
24 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
25 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
26 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
27 cellular immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0005374
28 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
29 spinal canal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003416
30 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
31 aplasia/hypoplasia affecting the eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0008056
32 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
33 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
34 patchy osteosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005686
35 seizures 58 Very frequent (99-80%)
36 frontal bossing 31 HP:0002007
37 abnormality of the dentition 58 Frequent (79-30%)
38 prominent forehead 31 HP:0011220
39 low-set ears 31 HP:0000369
40 micropenis 31 HP:0000054
41 tetany 31 HP:0001281
42 hypoparathyroidism 58 Very frequent (99-80%)
43 bifid uvula 31 HP:0000193
44 hypoplasia of the corpus callosum 31 HP:0002079
45 short palm 31 HP:0004279
46 posteriorly rotated ears 31 HP:0000358
47 recurrent bacterial infections 31 HP:0002718
48 hypocalcemic seizures 31 HP:0002199
49 delayed myelination 31 HP:0012448
50 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Nose:
depressed nasal bridge
beaked nose

Head And Neck Face:
prominent forehead
micrognathia
long philtrum

Growth Other:
postnatal growth retardation
intrauterine growth retardation, severe

Genitourinary External Genitalia Male:
micropenis

Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia

Endocrine Features:
growth hormone deficiency
congenital hypoparathyroidism
low parathyroid hormone

Immunology:
recurrent bacterial infections
normal cell mediated immunity

Skeletal Hands:
small hands

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
tetany
hypocalcemic seizures
delayed myelination
mental retardation
thin corpus callosum
more
Head And Neck Mouth:
bifid uvula
thin lips

Skeletal:
patchy osteosclerosis
delayed bone age

Head And Neck Eyes:
deep-set eyes

Skeletal Feet:
small feet

Clinical features from OMIM®:

241410 (Updated 05-Mar-2021)

UMLS symptoms related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:


seizures

GenomeRNAi Phenotypes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced shRNA abundance in FBW7 KO line GR00369-A 8.8 B3GALNT2 TBCB TUBA1B

Drugs & Therapeutics for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Drugs for Hypoparathyroidism-Retardation-Dysmorphism Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
2
Mycophenolic acid Approved Phase 3 24280-93-1 446541
3
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
5
Vindesine Approved, Investigational Phase 3 53643-48-4, 59917-39-4 40839
6
Lenograstim Approved, Investigational Phase 3 135968-09-1
7
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
8
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
9
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
10
Mercaptopurine Approved Phase 3 50-44-2 667490
11 Antibiotics, Antitubercular Phase 3
12 Anti-Bacterial Agents Phase 3
13 Folic Acid Antagonists Phase 3
14 Antirheumatic Agents Phase 3
15 Cyclosporins Phase 3
16 Dermatologic Agents Phase 3
17 Alkylating Agents Phase 3
18 Gastrointestinal Agents Phase 3
19 Anti-Inflammatory Agents Phase 3
20 Hormone Antagonists Phase 3
21 Immunoglobulins Phase 3
22 glucocorticoids Phase 3
23 Antineoplastic Agents, Hormonal Phase 3
24 Immunoglobulins, Intravenous Phase 3
25 Antibodies Phase 3
26 Antiemetics Phase 3
27
Levoleucovorin Approved, Investigational Phase 1, Phase 2 68538-85-2 149436
28
leucovorin Approved Phase 1, Phase 2 58-05-9 6006
29
Pancrelipase Approved, Investigational Phase 1, Phase 2 53608-75-6
30
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
31
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
32
Rucaparib Approved, Investigational Phase 1, Phase 2 283173-50-2 9931954
33
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
34
Epirubicin Approved Phase 2 56420-45-2 41867
35
Olaparib Approved Phase 2 763113-22-0 23725625
36
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
37
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
38
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
39
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
40
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
41
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
42 Immunosuppressive Agents Phase 1, Phase 2
43 Vitamin B Complex Phase 1, Phase 2
44 Immunologic Factors Phase 1, Phase 2
45 Antimetabolites Phase 1, Phase 2
46 Folate Phase 1, Phase 2
47 Vitamin B9 Phase 1, Phase 2
48 Hormones Phase 1, Phase 2
49 Nutrients Phase 1, Phase 2
50 pancreatin Phase 1, Phase 2

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Rebound Hernia Repair Device Trial Unknown status NCT00968773 Phase 4
2 Prospective Randomized Phase III Study of Laparoscopic Repair of Giant Hiatal Hernias With Nitinol-framed Lightweight Polytetrafluoroethylene Mesh Unknown status NCT01780285 Phase 3
3 Phase III Study to Compare Haplo-identical HSCT Versus Chemotherapy in First Remission for Standard-risk Adult Acute Lymphoblastic Leukemia Completed NCT02042690 Phase 3 Chemotherapy
4 A Randomized Phase II Trial to Assess the Efficacy of Paclitaxel and Olaparib in Comparison to Paclitaxel / Carboplatin Followed by Epirubicin/Cyclophosphamide as Neoadjuvant Chemotherapy in Patients With HER2-negative Early Breast Cancer and Homologous Recombination Deficiency (HRD Patients With Deleterious BRCA1/2 Tumor or Germline Mutation and/or HRD Score High) Completed NCT02789332 Phase 2 PwO;PwCb;EC
5 Non-Randomized, Open-Label Phase II Study to Assess Olaparib Tablets as a Treatment for Subjects With Different HRD Tumor Status and With Platinum-Sensitive, Relapsed, High-Grade Serous or High-Grade Endometrioid Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer That Have Received at Least 1 Prior Line of Chemotherapy Completed NCT02983799 Phase 2 OLAPARIB
6 A Phase 2 Study of Olaparib Monotherapy in Participants With Previously Treated, Homologous Recombination Repair Mutation (HRRm) or Homologous Recombination Deficiency (HRD) Positive Advanced Cancer Recruiting NCT03742895 Phase 2 Olaparib
7 A Phase 2 Study of Olaparib in Combination With Pembrolizumab in Participants With Previously Treated, Homologous Recombination Repair Mutation (HRRm) and/or Homologous Recombination Deficiency (HRD)-Positive Advanced Cancer Recruiting NCT04123366 Phase 2 Olaparib
8 A Pilot Study to Evaluate the Efficacy and Safety of Preoperative Olaparib Monotherapy and Preoperative Olaparib Plus Pembrolizumab Combination Therapy in Patients With HRD-Positive Stage III or IV Advanced Epithelial Ovarian/Fallopian Tube/Primary Peritoneal Cancer Recruiting NCT04417192 Phase 2 Olaparib;Pembrolizumab
9 Phase I Study of Irinotecan Liposome (Nal-IRI), Fluorouracil, Leucovorin and Rucaparib in the Treatment of Select Gastrointestinal Metastatic Malignancies Followed by a Phase Ib of First and Second Line Treatment of Both Unselected and Selected ( for BRCA 1/2 and PALB2 Mutations) Patients With Metastatic Adenocarcinoma of the Pancreas Then Followed by a Phase II Study of First Line Treatment of Selected Patients With Metastatic Adenocarcinoma of the Pancreas With Genomic Markers (Signature) of Homologous Recombination Deficiency (HRD) Recruiting NCT03337087 Phase 1, Phase 2 Fluorouracil;Leucovorin Calcium;Liposomal Irinotecan;Rucaparib
10 A Randomized, Molecular Driven Phase II Trial of Carboplatin-Paclitaxel-Bevacizumab vs Carboplatin-Paclitaxel-Bevacizumab-Rucaparib vs Carboplatin-Paclitaxel-Rucaparib, Selected According to HRD Status, in Patients With Advanced (Stage III B-C-IV) Ovarian, Primary Peritoneal and Fallopian Tube Cancer Preceded by a Phase I Dose Escalation Study on Rucaparib-Bevacizumab Combination Active, not recruiting NCT03462212 Phase 1, Phase 2 Carboplatin;Paclitaxel;Bevacizumab;Rucaparib
11 A Randomized Phase II Study of Preoperative Cisplatin Versus Paclitaxel in Patients With Triple Negative Breast Cancer: Evaluating the Homologous Recombination Deficiency (HRD) Biomarker Active, not recruiting NCT01982448 Phase 2 Cisplatin;Paclitaxel
12 Phase II Trial of Olaparib in Homologous Recombination Deficient (HRD) Malignant Mesothelioma Not yet recruiting NCT04515836 Phase 2 Olaparib
13 A Randomized Phase 2 Trial to Assess the Efficacy of AT in Comparison to TP as Neoadjuvant Chemotherapy in Patients With HER2-negative Early Breast Cancer : Evaluating the Homologous Recombination Deficiency(HRD) Biomarker Not yet recruiting NCT04499118 Phase 2 AT regimen;TP regimen
14 A Phase 2, Open-Label, Single-Arm Study of BGB-290 (BGB-290) for the Treatment of Patients With Metastatic Castration-Resistant Prostate Cancer (mCRPC) With Homologous Recombination Deficiency (HRD) Terminated NCT03712930 Phase 2 Pamiparib
15 Single-Arm, Phase II Proof of Concept Study of IDO-1 Inhibitor Epacadostat in Combination With Pembrolizumab in Advanced Pancreatic Cancer With Chromosomal Instability/Homologous Recombination Repair Deficiency (HRD) Withdrawn NCT03432676 Phase 2 Epacadostat
16 A Phase I, Open-label, Single-center, Single/Multiple-dose, Dose-escalation/Dose-expansion Clinical Study on Tolerance and Pharmacokinetics of HWH340 Tablet in Patients With Advanced Solid Tumors Recruiting NCT03415659 Phase 1 HWH340 tablet
17 Allogeneic Stem Cell Transplantation With Alternative Donor in Treatment of Hematologic Malignancy Completed NCT02487069 Cyclosporin A;Methotrexate;Antithymocyte globulin;Mycophenolate mofetil
18 A Training Set for the Homologous Recombination Deficiency Scoring Model With Loss of Heterozygosity Status in Epithelial Ovarian Cancer Recruiting NCT04651933
19 Determination of the Feasibility of Tumoural Somatic Mutations Detection in Blood of Patients With Ovarian Cancer Recruiting NCT03881683
20 A Study on the Homologous Recombination Deficiency Status in Chinese Population With Epithelial Ovarian Cancer Recruiting NCT04190667

Search NIH Clinical Center for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Cochrane evidence based reviews: hypoparathyroidism-retardation-dysmorphism syndrome

Genetic Tests for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Genetic tests related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

# Genetic test Affiliating Genes
1 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 29 TBCE

Anatomical Context for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

MalaCards organs/tissues related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

40
Eye, Pancreas, Pituitary, Bone, Prostate, Thyroid

Publications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Articles related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

(show top 50) (show all 54)
# Title Authors PMID Year
1
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. 6 57 61
26336027 2015
2
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 61 57 6
12389028 2002
3
Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. 57 54 61
19491227 2009
4
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. 54 61 57
16470743 2006
5
Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD. 6
16938882 2006
6
Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43. 57
10691411 2000
7
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. 57
9634513 1998
8
The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients. 57
7538982 1995
9
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. 57
7810565 1994
10
Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome. 57
1395080 1992
11
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. 57
2001103 1991
12
Short stature, mental retardation, and hypoparathyroidism: a new syndrome. 57
1701077 1990
13
Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. 54 61
17184771 2007
14
Multiple Endocrine Deficiencies are Common in Hypoparathyroidism-Retardation-Dysmorphism Syndrome. 61
33150438 2021
15
Correcting hypophosphataemia in a paediatric patient with Sanjad-Sakati syndrome through a single oral dose of potassium phosphate intravenous solution. 61
33505699 2021
16
Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. 61
33010201 2020
17
Endocrinological Manifestations of Sanjad-Sakati Syndrome. 61
32714707 2020
18
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. 61
30080992 2020
19
Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome. 61
31205051 2020
20
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. 61
30638765 2019
21
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review. 61
30055029 2018
22
Hypoparathyroidism in children: a study of eight cases. 61
30430523 2018
23
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. 61
29494340 2018
24
Sanjad-Sakati Syndrome: Oral Health Care. 61
29533933 2018
25
Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series. 61
28993435 2017
26
Anesthetic management of a case of Sanjad-Sakati syndrome. 61
27833494 2016
27
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. 61
28096557 2016
28
[Kenny-Caffey syndrome and its related syndromes]. 61
26619675 2015
29
Sanjad-Sakati syndrome in a Tunisian child. 61
26231322 2015
30
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. 61
25097779 2014
31
Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. 61
25436165 2014
32
Hypoparathyroidism-retardation-dysmorphism syndrome. 61
24339556 2013
33
Status epilepticus in a child with Sanjad Sakati syndrome. 61
23378547 2013
34
Neurological manifestations in children with Sanjad-Sakati syndrome. 61
23807856 2013
35
Sanjad-sakati syndrome dental management: a case report. 61
23533822 2013
36
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). 61
23041407 2012
37
Sanjad Sakati syndrome: a case series from Jordan. 61
22764442 2012
38
Sanjad-Sakati Syndrome in Sudanese children. 61
27493305 2011
39
Sanjad-Sakati Syndrome in Omani children. 61
22043344 2010
40
Case report: Sanjad--Sakati syndrome: dental findings and treatment. 61
20507815 2010
41
Sanjad-Sakati syndrome in a neonate. 61
20519790 2010
42
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. 61
20152369 2010
43
The otolaryngologic features of Sanjad-Sakati syndrome. 61
19620595 2009
44
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. 61
19554981 2009
45
Ophthalmic features of hypoparathyroidism-retardation-dysmorphism. 61
17257873 2007
46
Anesthesia management for the child with Sanjad-Sakati syndrome. 61
17040310 2006
47
Native tubulin-folding cofactor E purified from baculovirus-infected Sf9 cells dissociates tubulin dimers. 54
16624573 2006
48
Ophthalmic manifestations of Sanjad-Sakati syndrome. 61
17050283 2006
49
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets. 61
15852474 2005
50
Genetic diversity among the Arabs. 61
15767750 2005

Variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

ClinVar genetic disease variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBCE NM_003193.5(TBCE):c.66_67del (p.Val23fs) Deletion Pathogenic 5291 rs1572324681 1:235543430-235543431 1:235380115-235380116
2 TBCE NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter) SNV Pathogenic 5292 rs121908384 1:235600786-235600786 1:235437471-235437471
3 TBCE Deletion Pathogenic 402240 1:235575072-235583424
4 TBCE NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) Deletion Pathogenic/Likely pathogenic 5290 rs767004810 1:235564868-235564879 1:235401553-235401564
5 TBCE NM_003193.5(TBCE):c.143_144del (p.Lys48fs) Deletion Likely pathogenic 225483 rs758937799 1:235564860-235564861 1:235401545-235401546
6 TBCE NM_003193.5(TBCE):c.355_356del (p.Ile119fs) Deletion Likely pathogenic 804381 rs1572391840 1:235577916-235577917 1:235414601-235414602
7 TBCE NM_003193.5(TBCE):c.835T>C (p.Leu279=) SNV Uncertain significance 873643 1:235599702-235599702 1:235436387-235436387
8 TBCE NM_003193.5(TBCE):c.945C>T (p.Asn315=) SNV Uncertain significance 709363 rs138014826 1:235599905-235599905 1:235436590-235436590
9 TBCE NM_003193.5(TBCE):c.963+8C>G SNV Uncertain significance 873644 1:235599931-235599931 1:235436616-235436616
10 TBCE NM_003193.5(TBCE):c.70C>T (p.Arg24Cys) SNV Uncertain significance 874592 1:235543434-235543434 1:235380119-235380119
11 TBCE NM_003193.5(TBCE):c.1270+9G>A SNV Uncertain significance 874637 1:235602246-235602246 1:235438931-235438931
12 TBCE NM_003193.5(TBCE):c.100+1G>A SNV Uncertain significance 631595 rs200356271 1:235543465-235543465 1:235380150-235380150
13 TBCE NM_003193.5(TBCE):c.159C>T (p.His53=) SNV Uncertain significance 752655 rs754279473 1:235564876-235564876 1:235401561-235401561
14 B3GALNT2 NM_003193.5(TBCE):c.*177T>C SNV Uncertain significance 296317 rs886046153 1:235612254-235612254 1:235448939-235448939
15 TBCE NM_003193.5(TBCE):c.446C>G (p.Ala149Gly) SNV Uncertain significance 284336 rs150187679 1:235582862-235582862 1:235419547-235419547
16 B3GALNT2 NM_003193.5(TBCE):c.*17T>C SNV Uncertain significance 875576 1:235612094-235612094 1:235448779-235448779
17 B3GALNT2 NM_003193.5(TBCE):c.*39G>A SNV Uncertain significance 875577 1:235612116-235612116 1:235448801-235448801
18 B3GALNT2 NM_003193.5(TBCE):c.*132A>G SNV Uncertain significance 875578 1:235612209-235612209 1:235448894-235448894
19 B3GALNT2 NM_003193.5(TBCE):c.*133T>G SNV Uncertain significance 876571 1:235612210-235612210 1:235448895-235448895
20 B3GALNT2 NM_003193.5(TBCE):c.*208G>A SNV Uncertain significance 876572 1:235612285-235612285 1:235448970-235448970
21 TBCE NM_003193.5(TBCE):c.253A>G (p.Ile85Val) SNV Uncertain significance 282068 rs143886167 1:235577815-235577815 1:235414500-235414500
22 B3GALNT2 NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln) SNV Uncertain significance 296313 rs140662460 1:235612070-235612070 1:235448755-235448755
23 TBCE NM_003193.5(TBCE):c.-92C>G SNV Uncertain significance 296286 rs886046147 1:235530759-235530759 1:235367444-235367444
24 TBCE NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) SNV Uncertain significance 193652 rs200022583 1:235599714-235599714 1:235436399-235436399
25 TBCE NM_003193.5(TBCE):c.737+15C>T SNV Uncertain significance 296299 rs886046150 1:235597610-235597610 1:235434295-235434295
26 TBCE NM_003193.5(TBCE):c.1263C>G (p.Leu421=) SNV Uncertain significance 296309 rs199943206 1:235602230-235602230 1:235438915-235438915
27 TBCE NM_003193.5(TBCE):c.1125C>T (p.Pro375=) SNV Uncertain significance 296306 rs762683460 1:235602092-235602092 1:235438777-235438777
28 TBCE NM_003193.5(TBCE):c.100+15T>G SNV Uncertain significance 296293 rs886046149 1:235543479-235543479 1:235380164-235380164
29 TBCE NM_003193.5(TBCE):c.422G>A (p.Cys141Tyr) SNV Uncertain significance 296294 rs372421061 1:235582838-235582838 1:235419523-235419523
30 B3GALNT2 NM_003193.5(TBCE):c.*60_*62dup Duplication Uncertain significance 296314 rs886046152 1:235612134-235612135 1:235448819-235448820
31 B3GALNT2 NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile) SNV Uncertain significance 282266 rs143917509 1:235611729-235611729 1:235448414-235448414
32 TBCE NM_003193.5(TBCE):c.909G>A (p.Thr303=) SNV Uncertain significance 296302 rs202063874 1:235599869-235599869 1:235436554-235436554
33 TBCE NM_003193.5(TBCE):c.738-12T>A SNV Uncertain significance 296300 rs370888603 1:235599048-235599048 1:235435733-235435733
34 TBCE NM_003193.5(TBCE):c.100+13TG[28] Microsatellite Uncertain significance 296290 rs10524346 1:235543476-235543477 1:235380161-235380162
35 TBCE NM_003193.5(TBCE):c.-68G>C SNV Uncertain significance 296287 rs754235694 1:235530783-235530783 1:235367468-235367468
36 TBCE NM_003193.5(TBCE):c.1270+4del Deletion Uncertain significance 296310 rs774067348 1:235602241-235602241 1:235438926-235438926
37 TBCE NM_003193.5(TBCE):c.100+13TG[25] Microsatellite Uncertain significance 296291 rs10524346 1:235543477-235543478 1:235380162-235380163
38 TBCE NM_003193.5(TBCE):c.100+13TG[27] Microsatellite Uncertain significance 296289 rs10524346 1:235543476-235543477 1:235380161-235380162
39 TBCE NM_003193.5(TBCE):c.808C>T (p.Leu270=) SNV Uncertain significance 296301 rs200169233 1:235599130-235599130 1:235435815-235435815
40 TBCE NM_003193.5(TBCE):c.737+11C>T SNV Uncertain significance 296298 rs181223923 1:235597606-235597606 1:235434291-235434291
41 TBCE NM_003193.5(TBCE):c.981G>A (p.Glu327=) SNV Uncertain significance 296303 rs886046151 1:235600654-235600654 1:235437339-235437339
42 TBCE NM_003193.5(TBCE):c.460+14C>T SNV Uncertain significance 296295 rs143717755 1:235582890-235582890 1:235419575-235419575
43 TBCE NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys) SNV Uncertain significance 296308 rs750744949 1:235602220-235602220 1:235438905-235438905
44 B3GALNT2 NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu) SNV Likely benign 296311 rs114972093 1:235606224-235606224 1:235442909-235442909
45 B3GALNT2 NM_003193.5(TBCE):c.*108A>G SNV Likely benign 296315 rs78867315 1:235612185-235612185 1:235448870-235448870
46 B3GALNT2 NM_003193.5(TBCE):c.1492-14C>T SNV Likely benign 296312 rs147400126 1:235611971-235611971 1:235448656-235448656
47 TBCE NM_003193.5(TBCE):c.-93T>A SNV Likely benign 296285 rs114193373 1:235530758-235530758 1:235367443-235367443
48 TBCE NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) SNV Likely benign 286377 rs62620041 1:235577776-235577776 1:235414461-235414461
49 TBCE NM_003193.5(TBCE):c.585C>T (p.Ser195=) SNV Likely benign 497269 rs139440109 1:235594044-235594044 1:235430729-235430729
50 TBCE NM_003193.5(TBCE):c.667C>T (p.Arg223Trp) SNV Likely benign 721221 rs75832955 1:235597525-235597525 1:235434210-235434210

Expression for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Search GEO for disease gene expression data for Hypoparathyroidism-Retardation-Dysmorphism Syndrome.

Pathways for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

GO Terms for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Cellular components related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.63 TUBA1B TBCE TBCD TBCB TBCA ARL2
2 microtubule cytoskeleton GO:0015630 9.26 TUBA1B TBCB TBCA ARL2
3 microtubule GO:0005874 9.02 TUBA1B TBCE TBCD TBCB TBCA

Biological processes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 9.54 TBCE TBCD TBCA
2 microtubule cytoskeleton organization GO:0000226 9.5 TUBA1B TBCE TBCD
3 cellular calcium ion homeostasis GO:0006874 9.43 PTH GCM2 CASR
4 bicellular tight junction assembly GO:0070830 9.4 TBCD ARL2
5 response to fibroblast growth factor GO:0071774 9.16 PTH CASR
6 post-chaperonin tubulin folding pathway GO:0007023 9.13 TBCE TBCD TBCA
7 tubulin complex assembly GO:0007021 8.92 TBCE TBCD TBCA ARL2

Molecular functions related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-tubulin binding GO:0048487 8.96 TBCD TBCA
2 chaperone binding GO:0051087 8.8 TBCE TBCD TBCA

Sources for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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29 GTR
30 HMDB
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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68 SNOMED-CT via HPO
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