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 57 12 74 37 13 44 15 40 72
Sanjad-Sakati Syndrome 57 12 59 74 55
Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures 57 74
Hypoparathyroidism Retardation Dysmorphism Syndrome 29 6
Hrd Syndrome 12 59
Hrds 57 74
Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay 57
Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome 59
Hypoparathyroidism with Short Stature, Mental Retardation and Seizures 12
Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 59
Richardson-Kirk Syndrome 59
Sss 59

Characteristics:

Orphanet epidemiological data:

59
sanjad-sakati syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to kenny-caffey syndrome type 1 ()


HPO:

32
hypoparathyroidism-retardation-dysmorphism syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060348
OMIM 57 241410
KEGG 37 H00622
NCIt 50 C133727
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 73 C1855840
Orphanet 59 ORPHA2323
MedGen 42 C1855840
UMLS 72 C1855840

Summaries for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

KEGG : 37
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 : 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)

UniProtKB/Swiss-Prot : 74 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 : 75 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 74)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism 30.4 TBCE PTH FAM111A
2 kenny-caffey syndrome 30.0 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 neuroblastoma 1 10.2
42 retinitis pigmentosa 11 10.2
43 alacrima, achalasia, and mental retardation syndrome 10.2
44 primary microcephaly 10.2
45 hypogonadotropic hypogonadism 10.2
46 hypogonadism 10.2
47 hypogonadotropism 10.2
48 microcephaly 10.2
49 obsolete: sakati-nyhan syndrome 10.2
50 leprosy 3 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:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
10 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
11 external ear malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008572
12 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
13 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
14 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
15 hypocalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002901
16 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
17 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
18 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
19 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
20 severe intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008846
21 congenital hypoparathyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0008198
22 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
23 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
24 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
25 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
26 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
27 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
28 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
29 cellular immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0005374
30 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
31 spinal canal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003416
32 aplasia/hypoplasia affecting the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0008056
33 astigmatism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000483
34 patchy osteosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005686
35 low-set ears 32 HP:0000369
36 frontal bossing 32 HP:0002007
37 abnormality of the dentition 59 Frequent (79-30%)
38 prominent forehead 32 HP:0011220
39 short palm 32 HP:0004279
40 hypoparathyroidism 59 Very frequent (99-80%)
41 micropenis 32 HP:0000054
42 tetany 32 HP:0001281
43 recurrent bacterial infections 32 HP:0002718
44 bifid uvula 32 HP:0000193
45 hypoplasia of the corpus callosum 32 HP:0002079
46 posteriorly rotated ears 32 HP:0000358
47 delayed myelination 32 HP:0012448
48 growth hormone deficiency 32 HP:0000824
49 hypocalcemic seizures 32 HP:0002199

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis

Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia

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:
prominent forehead
long philtrum
micrognathia

Growth Other:
postnatal growth retardation
intrauterine growth retardation, severe

Neurologic Central Nervous System:
tetany
delayed myelination
hypocalcemic seizures
mental retardation
thin corpus callosum
more
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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved Phase 4 51-41-2 439260
2
Methadone Approved, Illicit Phase 4 76-99-3 4095
3 Neurotransmitter Agents Phase 4
4 Narcotics Phase 4
5 Desvenlafaxine Succinate Phase 4 386750-22-7
6 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
7 Analgesics Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Neurotransmitter Uptake Inhibitors Phase 4
10 Analgesics, Opioid Phase 4
11 Central Nervous System Depressants Phase 4
12 Psychotropic Drugs Phase 4
13 Antidepressive Agents Phase 4
14
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
15
Olaparib Approved Phase 3 763113-22-0 23725625
16 Poly(ADP-ribose) Polymerase Inhibitors Phase 3
17
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
18
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
19
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
20 Hormones Phase 2
21 GABA Agents Phase 2
22 Diuretics, Potassium Sparing Phase 2
23 Tranquilizing Agents Phase 2
24 Sodium Channel Blockers Phase 2
25 Anticonvulsants Phase 2
26 Antimanic Agents Phase 2
27 Antipsychotic Agents Phase 2
28 calcium channel blockers Phase 2
29 Calcium, Dietary Phase 2
30 Hematinics Phase 2
31 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:

41
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. 38 8 71
26336027 2015
2
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 38 8 71
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. 9 38 8
19491227 2009
4
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. 9 38 8
16470743 2006
5
Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD. 71
16938882 2006
6
Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43. 8
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. 8
9634513 1998
8
The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients. 8
7538982 1995
9
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. 8
7810565 1994
10
Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome. 8
1395080 1992
11
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. 8
2001103 1991
12
Short stature, mental retardation, and hypoparathyroidism: a new syndrome. 8
1701077 1990
13
Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. 9 38
17184771 2007
14
Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome. 38
31205051 2019
15
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. 38
30638765 2019
16
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. 38
30080992 2018
17
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review. 38
30055029 2018
18
Hypoparathyroidism in children: a study of eight cases. 38
30430523 2018
19
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. 38
29494340 2018
20
Sanjad-Sakati Syndrome: Oral Health Care. 38
29533933 2018
21
Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series. 38
28993435 2017
22
Anesthetic management of a case of Sanjad-Sakati syndrome. 38
27833494 2016
23
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. 38
28096557 2016
24
[Kenny-Caffey syndrome and its related syndromes]. 38
26619675 2015
25
Sanjad-Sakati syndrome in a Tunisian child. 38
26231322 2015
26
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. 38
25097779 2014
27
Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. 38
25436165 2014
28
Hypoparathyroidism-retardation-dysmorphism syndrome. 38
24339556 2013
29
Status epilepticus in a child with Sanjad Sakati syndrome. 38
23378547 2013
30
Sanjad-sakati syndrome dental management: a case report. 38
23533822 2013
31
Neurological manifestations in children with Sanjad-Sakati syndrome. 38
23807856 2013
32
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). 38
23041407 2012
33
Sanjad Sakati syndrome: a case series from Jordan. 38
22764442 2012
34
Sanjad-Sakati Syndrome in Sudanese children. 38
27493305 2011
35
Sanjad-Sakati Syndrome in Omani children. 38
22043344 2010
36
Case report: Sanjad--Sakati syndrome: dental findings and treatment. 38
20507815 2010
37
Sanjad-Sakati syndrome in a neonate. 38
20519790 2010
38
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. 38
20152369 2010
39
The otolaryngologic features of Sanjad-Sakati syndrome. 38
19620595 2009
40
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. 38
19554981 2009
41
Ophthalmic features of hypoparathyroidism-retardation-dysmorphism. 38
17257873 2007
42
Anesthesia management for the child with Sanjad-Sakati syndrome. 38
17040310 2006
43
Native tubulin-folding cofactor E purified from baculovirus-infected Sf9 cells dissociates tubulin dimers. 9
16624573 2006
44
Ophthalmic manifestations of Sanjad-Sakati syndrome. 38
17050283 2006
45
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets. 38
15852474 2005
46
Genetic diversity among the Arabs. 38
15767750 2005
47
Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome. 38
15065107 2004
48
The dentofacial features of Sanjad-Sakati syndrome: a case report. 38
15005702 2004
49
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. 38
10712106 2000
50
Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement. 38
10377012 1999

Variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

6 (show all 44)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBCE deletion Pathogenic 1:235575072-235583424 :0-0
2 TBCE TBCE, 2-BP DEL, 66AG deletion Pathogenic
3 TBCE NM_001079515.3(TBCE): c.1113T> A (p.Cys371Ter) single nucleotide variant Pathogenic rs121908384 1:235600786-235600786 1:235437471-235437471
4 TBCE NM_003193.4(TBCE): c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) deletion Pathogenic/Likely pathogenic rs767004810 1:235564872-235564883 1:235401557-235401568
5 TBCE NM_001079515.3(TBCE): c.143_144del (p.Lys48fs) deletion Likely pathogenic rs758937799 1:235564860-235564861 1:235401545-235401546
6 TBCE NM_001079515.3(TBCE): c.214C> T (p.Pro72Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs62620041 1:235577776-235577776 1:235414461-235414461
7 TBCE NM_001079515.3(TBCE): c.1577G> A (p.Arg526Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140662460 1:235612070-235612070 1:235448755-235448755
8 TBCE NM_001079515.3(TBCE): c.1397C> T (p.Pro466Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs114972093 1:235606224-235606224 1:235442909-235442909
9 TBCE NM_001079515.3(TBCE): c.1125C> T (p.Pro375=) single nucleotide variant Uncertain significance rs762683460 1:235602092-235602092 1:235438777-235438777
10 TBCE NM_001079515.3(TBCE): c.100+15T> G single nucleotide variant Uncertain significance rs886046149 1:235543479-235543479 1:235380164-235380164
11 TBCE NM_001079515.3(TBCE): c.422G> A (p.Cys141Tyr) single nucleotide variant Uncertain significance rs372421061 1:235582838-235582838 1:235419523-235419523
12 TBCE NM_001079515.3(TBCE): c.-140C> G single nucleotide variant Uncertain significance rs886046147 1:235530759-235530759 1:235367444-235367444
13 TBCE NM_001079515.3(TBCE): c.1492-14C> T single nucleotide variant Uncertain significance rs147400126 1:235611971-235611971 1:235448656-235448656
14 TBCE NM_001079515.3(TBCE): c.*108A> G single nucleotide variant Uncertain significance rs78867315 1:235612185-235612185 1:235448870-235448870
15 TBCE NM_001079515.3(TBCE): c.1263C> G (p.Leu421=) single nucleotide variant Uncertain significance rs199943206 1:235602230-235602230 1:235438915-235438915
16 TBCE NM_003193.4(TBCE): c.100+64_100+65delGT deletion Uncertain significance rs10524346 1:235543528-235543529 1:235380213-235380214
17 TBCE NM_003193.4(TBCE): c.100+62_100+65dupGTGT duplication Uncertain significance rs10524346 1:235543526-235543529 1:235380211-235380214
18 TBCE NM_001079515.3(TBCE): c.738-12T> A single nucleotide variant Uncertain significance rs370888603 1:235599048-235599048 1:235435733-235435733
19 TBCE NM_001079515.3(TBCE): c.909G> A (p.Thr303=) single nucleotide variant Uncertain significance rs202063874 1:235599869-235599869 1:235436554-235436554
20 TBCE NM_001079515.3(TBCE): c.981G> A (p.Glu327=) single nucleotide variant Uncertain significance rs886046151 1:235600654-235600654 1:235437339-235437339
21 TBCE NM_001079515.3(TBCE): c.1050A> G (p.Glu350=) single nucleotide variant Uncertain significance rs35663526 1:235600723-235600723 1:235437408-235437408
22 TBCE NM_001079515.3(TBCE): c.1270+4del deletion Uncertain significance rs774067348 1:235602241-235602241 1:235438926-235438926
23 TBCE NM_001079515.3(TBCE): c.100+1G> A single nucleotide variant Uncertain significance 1:235543465-235543465 1:235380150-235380150
24 TBCE NM_001079515.3(TBCE): c.737+15C> T single nucleotide variant Uncertain significance rs886046150 1:235597610-235597610 1:235434295-235434295
25 TBCE NM_001079515.3(TBCE): c.-116G> C single nucleotide variant Uncertain significance rs754235694 1:235530783-235530783 1:235367468-235367468
26 TBCE NM_003193.4(TBCE): c.100+64_100+65dupGT duplication Uncertain significance rs10524346 1:235543528-235543529 1:235380213-235380214
27 TBCE NM_001079515.3(TBCE): c.460+14C> T single nucleotide variant Uncertain significance rs143717755 1:235582890-235582890 1:235419575-235419575
28 TBCE NM_001079515.3(TBCE): c.737+11C> T single nucleotide variant Uncertain significance rs181223923 1:235597606-235597606 1:235434291-235434291
29 TBCE NM_001079515.3(TBCE): c.808C> T (p.Leu270=) single nucleotide variant Uncertain significance rs200169233 1:235599130-235599130 1:235435815-235435815
30 TBCE NM_001079515.3(TBCE): c.1253A> G (p.Tyr418Cys) single nucleotide variant Uncertain significance rs750744949 1:235602220-235602220 1:235438905-235438905
31 TBCE NM_001079515.3(TBCE): c.*60_*62dup duplication Uncertain significance rs886046152 1:235612137-235612139 1:235448822-235448824
32 TBCE NM_001079515.3(TBCE): c.*177T> C single nucleotide variant Uncertain significance rs886046153 1:235612254-235612254 1:235448939-235448939
33 TBCE NM_001079515.3(TBCE): c.253A> G (p.Ile85Val) single nucleotide variant Uncertain significance rs143886167 1:235577815-235577815 1:235414500-235414500
34 TBCE NM_001079515.3(TBCE): c.1465C> A (p.Leu489Ile) single nucleotide variant Uncertain significance rs143917509 1:235611729-235611729 1:235448414-235448414
35 TBCE NM_001079515.3(TBCE): c.847A> T (p.Ile283Phe) single nucleotide variant Uncertain significance rs200022583 1:235599714-235599714 1:235436399-235436399
36 TBCE NM_001079515.3(TBCE): c.998G> C (p.Ser333Thr) single nucleotide variant Likely benign rs35579976 1:235600671-235600671 1:235437356-235437356
37 TBCE NM_001079515.3(TBCE): c.100+13T> G single nucleotide variant Likely benign rs199696216 1:235543477-235543477 1:235380162-235380162
38 TBCE NM_001079515.3(TBCE): c.614T> C (p.Val205Ala) single nucleotide variant Likely benign rs16832611 1:235594073-235594073 1:235430758-235430758
39 TBCE NM_001079515.3(TBCE): c.-141T> A single nucleotide variant Likely benign rs114193373 1:235530758-235530758 1:235367443-235367443
40 TBCE NM_001079515.3(TBCE): c.1068A> G (p.Leu356=) single nucleotide variant Likely benign rs6666168 1:235600741-235600741 1:235437426-235437426
41 TBCE NM_001079515.3(TBCE): c.-97T> C single nucleotide variant Likely benign rs55980101 1:235530802-235530802 1:235367487-235367487
42 TBCE NM_001079515.3(TBCE): c.1226A> G (p.Glu409Gly) single nucleotide variant Likely benign rs16832619 1:235602193-235602193 1:235438878-235438878
43 TBCE NM_001079515.3(TBCE): c.*142T> A single nucleotide variant Benign rs7537 1:235612219-235612219 1:235448904-235448904
44 TBCE NM_001079515.3(TBCE): c.560+5G> A single nucleotide variant Benign 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 9.43 TUBA1B TBCD TBCC TBCB TBCA ARL2
2 microtubule cytoskeleton GO:0015630 9.33 TUBA1B TBCB TBCA
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 tubulin complex assembly GO:0007021 9.26 TBCD TBCC TBCA ARL2
5 post-chaperonin tubulin folding pathway GO:0007023 8.92 TBCE TBCD TBCC TBCA

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 9.33 TUBA1B TBCC ARL2
2 beta-tubulin binding GO:0048487 8.96 TBCD TBCA
3 chaperone binding GO:0051087 8.92 TBCE TBCD TBCC TBCA

Sources for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

3 CDC
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10 dbSNP
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17 EFO
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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