HRDS
MCID: HYP134
MIFTS: 52

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 56 12 73 36 13 43 15 39 71
Sanjad-Sakati Syndrome 56 12 58 73 54
Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures 56 73
Hypoparathyroidism Retardation Dysmorphism Syndrome 29 6
Hrd Syndrome 12 58
Hrds 56 73
Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay 56
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:

56
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 hypoparathyroidism and kenny-caffey syndrome, 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 Norepinephrine and Methadone have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and bone, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity.

OMIM : 56 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)

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 80)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism 30.4 TBCE GCM2 FAM111A
2 kenny-caffey syndrome 30.2 TUBA1B TBCE FAM111A
3 sick sinus syndrome 12.1
4 hypoparathyroidism-intellectual disability-dysmorphism syndrome 11.9
5 sick sinus syndrome 2 11.8
6 stiff skin syndrome 11.7
7 subclavian steal syndrome 11.5
8 sick sinus syndrome 1 11.3
9 sinus node disease and myopia 11.2
10 sick sinus syndrome 3 11.2
11 chronic atrial and intestinal dysrhythmia 11.2
12 kenny-caffey syndrome, type 1 10.5
13 hyperphosphatemia 10.5
14 hypothyroidism 10.5
15 dwarfism 10.5
16 autosomal recessive disease 10.5
17 hashimoto thyroiditis 10.3
18 visceral myopathy 10.3
19 strabismus 10.3
20 astigmatism 10.3
21 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.3
22 deficiency anemia 10.3
23 congenital hypothyroidism 10.3
24 tooth agenesis 10.3
25 monocular esotropia 10.3
26 alternating exotropia 10.3
27 exotropia 10.3
28 visual epilepsy 10.3
29 status epilepticus 10.3
30 dental caries 10.3
31 macrocytic anemia 10.3
32 retinal vascular disease 10.3
33 superior mesenteric artery syndrome 10.3
34 myopathy 10.3
35 thyroiditis 10.3
36 mechanical strabismus 10.3
37 esotropia 10.3
38 chronic intestinal pseudoobstruction 10.3
39 seizure disorder 10.3
40 acrocephalopolysyndactyly type iii 10.2
41 retinitis pigmentosa 11 10.2
42 alacrima, achalasia, and mental retardation syndrome 10.2
43 primary microcephaly 10.2
44 hypogonadotropic hypogonadism 10.2
45 microphthalmia 10.2
46 hypogonadism 10.2
47 hypogonadotropism 10.2
48 neuroblastoma 10.2
49 microcephaly 10.2
50 obsolete: sakati-nyhan syndrome 10.2

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
microcephaly

Genitourinary External Genitalia Male:
micropenis

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

Skeletal:
patchy osteosclerosis
delayed bone age

Skeletal Hands:
small hands

Head And Neck Nose:
depressed nasal bridge
beaked nose

Head And Neck Face:
micrognathia
prominent forehead
long philtrum

Growth Other:
postnatal growth retardation
intrauterine growth retardation, severe

Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia

Immunology:
recurrent bacterial infections
normal cell mediated immunity

Endocrine Features:
growth hormone deficiency
congenital hypoparathyroidism
low parathyroid hormone

Head And Neck Eyes:
deep-set eyes

Skeletal Feet:
small feet

Clinical features from OMIM:

241410

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 all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved Phase 4 51-41-2 439260
2
Methadone Approved Phase 4 76-99-3 4095
3 Neurotransmitter Agents Phase 4
4 Narcotics Phase 4
5 Analgesics Phase 4
6 Psychotropic Drugs Phase 4
7 Central Nervous System Depressants Phase 4
8 Analgesics, Opioid Phase 4
9 Desvenlafaxine Succinate Phase 4 386750-22-7
10 Antidepressive Agents Phase 4
11 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
12
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
13
Olaparib Approved Phase 3 763113-22-0 23725625
14 Poly(ADP-ribose) Polymerase Inhibitors Phase 3
15
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
16
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
17
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
18 Hormones Phase 2
19 Anticonvulsants Phase 2
20 Antipsychotic Agents Phase 2
21 Sodium Channel Blockers Phase 2
22 Tranquilizing Agents Phase 2
23 Diuretics, Potassium Sparing Phase 2
24 Antimanic Agents Phase 2
25 GABA Agents Phase 2
26 Calcium, Dietary Phase 2
27 calcium channel blockers Phase 2
28 Hematinics Phase 2
29 Epoetin alfa Phase 2 113427-24-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label Pilot Study of Desvenlafaxine for Opioid-Dependent Patients With Comorbid Depression Completed NCT02200406 Phase 4 Desvenlafaxine
2 A Phase IIIb, Single-arm, Open-label Multicentre Study of Olaparib Maintenance Monotherapy in Platinum Sensitive Relapsed Non-Germline BRCA Mutated Ovarian Cancer Patients Who Are in Complete or Partial Response Following Platinum Based Chemotherapy Active, not recruiting NCT03402841 Phase 3 Olaparib
3 A Randomized Open-Label 6 Month Acute and Maintenance Trial of Lamotrigine vs. Standard of Care Sodium Valproate Monotherapy for Treatment of Mixed Mania. Completed NCT00206778 Phase 2 Lamotrigine;Sodium Valproate
4 Erythropoietin as an add-on Treatment for Cognitive Side-effects of Electroconvulsive Therapy Recruiting NCT03339596 Phase 2 Erythropoietin;Saline
5 Mindfulness Based Cognitive Therapy for Chronic Pain and Comorbid Unipolar Depression Unknown status NCT01473615
6 A Randomized Controlled Study of H1-Coil rTMS for Treatment-Resistant Late-Life Depression Completed NCT01860157

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, Pituitary, Bone, Thyroid

Publications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Articles related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

(show all 50)
# 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 56 61
26336027 2015
2
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 61 56 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. 61 54 56
19491227 2009
4
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. 56 54 61
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. 56
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. 56
9634513 1998
8
The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients. 56
7538982 1995
9
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. 56
7810565 1994
10
Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome. 56
1395080 1992
11
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. 56
2001103 1991
12
Short stature, mental retardation, and hypoparathyroidism: a new syndrome. 56
1701077 1990
13
Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. 54 61
17184771 2007
14
Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome. 61
31205051 2020
15
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. 61
30638765 2019
16
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. 61
30080992 2018
17
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review. 61
30055029 2018
18
Hypoparathyroidism in children: a study of eight cases. 61
30430523 2018
19
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. 61
29494340 2018
20
Sanjad-Sakati Syndrome: Oral Health Care. 61
29533933 2018
21
Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series. 61
28993435 2017
22
Anesthetic management of a case of Sanjad-Sakati syndrome. 61
27833494 2016
23
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. 61
28096557 2016
24
[Kenny-Caffey syndrome and its related syndromes]. 61
26619675 2015
25
Sanjad-Sakati syndrome in a Tunisian child. 61
26231322 2015
26
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. 61
25097779 2014
27
Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. 61
25436165 2014
28
Hypoparathyroidism-retardation-dysmorphism syndrome. 61
24339556 2013
29
Status epilepticus in a child with Sanjad Sakati syndrome. 61
23378547 2013
30
Neurological manifestations in children with Sanjad-Sakati syndrome. 61
23807856 2013
31
Sanjad-sakati syndrome dental management: a case report. 61
23533822 2013
32
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). 61
23041407 2012
33
Sanjad Sakati syndrome: a case series from Jordan. 61
22764442 2012
34
Sanjad-Sakati Syndrome in Sudanese children. 61
27493305 2011
35
Sanjad-Sakati Syndrome in Omani children. 61
22043344 2010
36
Case report: Sanjad--Sakati syndrome: dental findings and treatment. 61
20507815 2010
37
Sanjad-Sakati syndrome in a neonate. 61
20519790 2010
38
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. 61
20152369 2010
39
The otolaryngologic features of Sanjad-Sakati syndrome. 61
19620595 2009
40
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. 61
19554981 2009
41
Ophthalmic features of hypoparathyroidism-retardation-dysmorphism. 61
17257873 2007
42
Anesthesia management for the child with Sanjad-Sakati syndrome. 61
17040310 2006
43
Native tubulin-folding cofactor E purified from baculovirus-infected Sf9 cells dissociates tubulin dimers. 54
16624573 2006
44
Ophthalmic manifestations of Sanjad-Sakati syndrome. 61
17050283 2006
45
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets. 61
15852474 2005
46
Genetic diversity among the Arabs. 61
15767750 2005
47
Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome. 61
15065107 2004
48
The dentofacial features of Sanjad-Sakati syndrome: a case report. 61
15005702 2004
49
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. 61
10712106 2000
50
Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement. 61
10377012 1999

Variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

6 (show all 44) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 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 1:235564872-235564883 1:235401557-235401568
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.214C>T (p.Pro72Ser)SNV Conflicting interpretations of pathogenicity 286377 rs62620041 1:235577776-235577776 1:235414461-235414461
7 TBCE NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu)SNV Conflicting interpretations of pathogenicity 296311 rs114972093 1:235606224-235606224 1:235442909-235442909
8 TBCE NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln)SNV Conflicting interpretations of pathogenicity 296313 rs140662460 1:235612070-235612070 1:235448755-235448755
9 TBCE NM_003193.5(TBCE):c.1492-14C>TSNV Uncertain significance 296312 rs147400126 1:235611971-235611971 1:235448656-235448656
10 TBCE NM_003193.5(TBCE):c.422G>A (p.Cys141Tyr)SNV Uncertain significance 296294 rs372421061 1:235582838-235582838 1:235419523-235419523
11 TBCE NM_003193.5(TBCE):c.1263C>G (p.Leu421=)SNV Uncertain significance 296309 rs199943206 1:235602230-235602230 1:235438915-235438915
12 TBCE NM_003193.5(TBCE):c.*108A>GSNV Uncertain significance 296315 rs78867315 1:235612185-235612185 1:235448870-235448870
13 TBCE NM_003193.5(TBCE):c.100+13TG[28]short repeat Uncertain significance 296290 rs10524346 1:235543526-235543529 1:235380211-235380214
14 TBCE NM_003193.5(TBCE):c.100+13TG[25]short repeat Uncertain significance 296291 rs10524346 1:235543528-235543529 1:235380213-235380214
15 TBCE NM_003193.5(TBCE):c.737+15C>TSNV Uncertain significance 296299 rs886046150 1:235597610-235597610 1:235434295-235434295
16 TBCE NM_003193.5(TBCE):c.738-12T>ASNV Uncertain significance 296300 rs370888603 1:235599048-235599048 1:235435733-235435733
17 TBCE NM_003193.5(TBCE):c.909G>A (p.Thr303=)SNV Uncertain significance 296302 rs202063874 1:235599869-235599869 1:235436554-235436554
18 TBCE NM_003193.5(TBCE):c.981G>A (p.Glu327=)SNV Uncertain significance 296303 rs886046151 1:235600654-235600654 1:235437339-235437339
19 TBCE NM_003193.5(TBCE):c.1050A>G (p.Glu350=)SNV Uncertain significance 296304 rs35663526 1:235600723-235600723 1:235437408-235437408
20 TBCE NM_003193.5(TBCE):c.1270+4deldeletion Uncertain significance 296310 rs774067348 1:235602241-235602241 1:235438926-235438926
21 TBCE NM_003193.5(TBCE):c.-68G>CSNV Uncertain significance 296287 rs754235694 1:235530783-235530783 1:235367468-235367468
22 TBCE NM_003193.5(TBCE):c.100+13TG[27]short repeat Uncertain significance 296289 rs10524346 1:235543528-235543529 1:235380213-235380214
23 TBCE NM_003193.5(TBCE):c.460+14C>TSNV Uncertain significance 296295 rs143717755 1:235582890-235582890 1:235419575-235419575
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+11C>TSNV Uncertain significance 296298 rs181223923 1:235597606-235597606 1:235434291-235434291
26 TBCE NM_003193.5(TBCE):c.808C>T (p.Leu270=)SNV Uncertain significance 296301 rs200169233 1:235599130-235599130 1:235435815-235435815
27 TBCE NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys)SNV Uncertain significance 296308 rs750744949 1:235602220-235602220 1:235438905-235438905
28 TBCE NM_003193.5(TBCE):c.*60_*62dupduplication Uncertain significance 296314 rs886046152 1:235612137-235612139 1:235448822-235448824
29 TBCE NM_003193.5(TBCE):c.*177T>CSNV Uncertain significance 296317 rs886046153 1:235612254-235612254 1:235448939-235448939
30 TBCE NM_003193.5(TBCE):c.-92C>GSNV Uncertain significance 296286 rs886046147 1:235530759-235530759 1:235367444-235367444
31 TBCE NM_003193.5(TBCE):c.253A>G (p.Ile85Val)SNV Uncertain significance 282068 rs143886167 1:235577815-235577815 1:235414500-235414500
32 TBCE NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)SNV Uncertain significance 282266 rs143917509 1:235611729-235611729 1:235448414-235448414
33 TBCE NM_003193.5(TBCE):c.100+15T>GSNV Uncertain significance 296293 rs886046149 1:235543479-235543479 1:235380164-235380164
34 TBCE NM_003193.5(TBCE):c.1125C>T (p.Pro375=)SNV Uncertain significance 296306 rs762683460 1:235602092-235602092 1:235438777-235438777
35 TBCE NM_003193.5(TBCE):c.100+1G>ASNV Uncertain significance 631595 rs200356271 1:235543465-235543465 1:235380150-235380150
36 TBCE NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly)SNV Likely benign 296307 rs16832619 1:235602193-235602193 1:235438878-235438878
37 TBCE NM_003193.5(TBCE):c.-49T>CSNV Likely benign 296288 rs55980101 1:235530802-235530802 1:235367487-235367487
38 TBCE NM_003193.5(TBCE):c.998G>C (p.Ser333Thr)SNV Likely benign 235262 rs35579976 1:235600671-235600671 1:235437356-235437356
39 TBCE NM_003193.5(TBCE):c.614T>C (p.Val205Ala)SNV Likely benign 296297 rs16832611 1:235594073-235594073 1:235430758-235430758
40 TBCE NM_003193.5(TBCE):c.-93T>ASNV Likely benign 296285 rs114193373 1:235530758-235530758 1:235367443-235367443
41 TBCE NM_003193.5(TBCE):c.1068A>G (p.Leu356=)SNV Likely benign 296305 rs6666168 1:235600741-235600741 1:235437426-235437426
42 TBCE NM_003193.5(TBCE):c.100+13T>GSNV Likely benign 296292 rs199696216 1:235543477-235543477 1:235380162-235380162
43 TBCE NM_003193.5(TBCE):c.*142T>ASNV Benign 296316 rs7537 1:235612219-235612219 1:235448904-235448904
44 TBCE NM_003193.5(TBCE):c.560+5G>ASNV Benign 296296 rs12757197 1:235590559-235590559 1:235427244-235427244

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 9.5 TUBA1B TBCE TBCD TBCC TBCB TBCA
2 microtubule cytoskeleton GO:0015630 9.46 TUBA1B TBCB TBCA ARL2
3 lateral plasma membrane GO:0016328 9.26 TBCD ARL2
4 microtubule GO:0005874 9.1 TUBA1B TBCE TBCD TBCC 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 9.46 TBCE TBCD TBCC TBCA
2 microtubule cytoskeleton organization GO:0000226 9.43 TUBA1B TBCE TBCD
3 bicellular tight junction assembly GO:0070830 9.32 TBCD ARL2
4 post-chaperonin tubulin folding pathway GO:0007023 9.26 TBCE TBCD TBCC TBCA
5 tubulin complex assembly GO:0007021 9.02 TBCE TBCD TBCC TBCA ARL2

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.43 TUBA1B TBCC ARL2
2 tubulin binding GO:0015631 9.16 TBCC TBCA
3 beta-tubulin binding GO:0048487 8.96 TBCD TBCA
4 chaperone binding GO:0051087 8.92 TBCE TBCD TBCC TBCA

Sources for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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