SSS
MCID: HYP696
MIFTS: 22

Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome (SSS)

Categories: Rare diseases

Aliases & Classifications for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

MalaCards integrated aliases for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome:

Name: Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 20
Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation and Developmental Delay 20 6
Hypoparathyroidism with Short Stature, Intellectual Disability and Seizures 20
Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome 20
Hypoparathyroidism-Retardation-Dysmorphism Syndrome 71
Richardson-Kirk Syndrome 20
Sanjad-Sakati Syndrome 20
Hrd Syndrome 20
Sss 20

Classifications:



External Ids:

UMLS 71 C1855840

Summaries for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

GARD : 20 Hypoparathyroidism-intellectual disability-dysmorphism syndrome is a genetic disorder present from birth (congenital) characterized by multiple anomalies and intellectual disability. Symptoms may include: hypoparathyroidism, delayed growth (growth restriction), seizures, microcephaly (small head size), differences in development of the face, eyes, and teeth, and shortened hands and feet. It is caused by mutations in the TBCE gene and is inherited in an autosomal recessive manner. Treatment is focused on management of symptoms such as the use of growth hormone to assist in growth.

MalaCards based summary : Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome, also known as hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay, is related to hypoparathyroidism-retardation-dysmorphism syndrome and sick sinus syndrome, and has symptoms including seizures An important gene associated with Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome is TBCE (Tubulin Folding Cofactor E). Affiliated tissues include thyroid.

Related Diseases for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism-retardation-dysmorphism syndrome 11.4
2 sick sinus syndrome 11.4
3 sick sinus syndrome 2 11.2
4 stiff skin syndrome 11.2
5 sick sinus syndrome 1 11.0
6 sinus node disease and myopia 10.9
7 subclavian steal syndrome 10.9
8 sick sinus syndrome 3 10.9
9 chronic atrial and intestinal dysrhythmia 10.9
10 acrocephalopolysyndactyly type iii 10.9
11 hypoparathyroidism 10.8
12 autosomal recessive disease 10.7
13 microcephaly 10.5
14 kenny-caffey syndrome 10.4
15 kenny-caffey syndrome, type 1 10.3
16 hyperphosphatemia 10.3
17 hypothyroidism 10.3
18 dwarfism 10.3
19 cardiac arrhythmia 10.2
20 hashimoto thyroiditis 10.2
21 visceral myopathy 10.2
22 strabismus 10.2
23 astigmatism 10.2
24 alacrima, achalasia, and mental retardation syndrome 10.2
25 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
26 deficiency anemia 10.2
27 congenital hypothyroidism 10.2
28 tooth agenesis 10.2
29 intestinal pseudo-obstruction 10.2
30 urinary tract infection 10.2
31 monocular esotropia 10.2
32 microphthalmia 10.2
33 alternating exotropia 10.2
34 exotropia 10.2
35 status epilepticus 10.2
36 dental caries 10.2
37 macrocytic anemia 10.2
38 retinal vascular disease 10.2
39 superior mesenteric artery syndrome 10.2
40 myopathy 10.2
41 thyroiditis 10.2
42 mechanical strabismus 10.2
43 esotropia 10.2
44 hepatocellular carcinoma 10.0
45 leprosy 3 10.0
46 toxic shock syndrome 10.0
47 irritable bowel syndrome 10.0
48 hansen's disease 10.0
49 fibrosis of extraocular muscles, congenital, 1 9.8
50 meningioma, familial 9.8

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



Diseases related to Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Symptoms & Phenotypes for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

UMLS symptoms related to Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome:


seizures

Drugs & Therapeutics for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Search Clinical Trials , NIH Clinical Center for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Genetic Tests for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Anatomical Context for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

MalaCards organs/tissues related to Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome:

40
Thyroid

Publications for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Articles related to Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome:

(show all 40)
# 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 61
26336027 2015
2
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 61 6
12389028 2002
3
Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD. 6
16938882 2006
4
Correcting hypophosphataemia in a paediatric patient with Sanjad-Sakati syndrome through a single oral dose of potassium phosphate intravenous solution. 61
33505699 2021
5
Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. 61
33010201 2020
6
Endocrinological Manifestations of Sanjad-Sakati Syndrome. 61
32714707 2020
7
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. 61
30080992 2020
8
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. 61
30638765 2019
9
Hypoparathyroidism in children: a study of eight cases. 61
30430523 2018
10
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. 61
29494340 2018
11
Sanjad-Sakati Syndrome: Oral Health Care. 61
29533933 2018
12
Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series. 61
28993435 2017
13
Anesthetic management of a case of Sanjad-Sakati syndrome. 61
27833494 2016
14
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. 61
28096557 2016
15
Sanjad-Sakati syndrome in a Tunisian child. 61
26231322 2015
16
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. 61
25097779 2014
17
Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. 61
25436165 2014
18
Status epilepticus in a child with Sanjad Sakati syndrome. 61
23378547 2013
19
Neurological manifestations in children with Sanjad-Sakati syndrome. 61
23807856 2013
20
Sanjad-sakati syndrome dental management: a case report. 61
23533822 2013
21
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). 61
23041407 2012
22
Sanjad Sakati syndrome: a case series from Jordan. 61
22764442 2012
23
Sanjad-Sakati Syndrome in Sudanese children. 61
27493305 2011
24
Sanjad-Sakati Syndrome in Omani children. 61
22043344 2010
25
Case report: Sanjad--Sakati syndrome: dental findings and treatment. 61
20507815 2010
26
Sanjad-Sakati syndrome in a neonate. 61
20519790 2010
27
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. 61
20152369 2010
28
The otolaryngologic features of Sanjad-Sakati syndrome. 61
19620595 2009
29
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. 61
19554981 2009
30
Ophthalmic features of hypoparathyroidism-retardation-dysmorphism. 61
17257873 2007
31
Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. 61
17184771 2007
32
Anesthesia management for the child with Sanjad-Sakati syndrome. 61
17040310 2006
33
Ophthalmic manifestations of Sanjad-Sakati syndrome. 61
17050283 2006
34
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. 61
16470743 2006
35
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets. 61
15852474 2005
36
Genetic diversity among the Arabs. 61
15767750 2005
37
Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome. 61
15065107 2004
38
The dentofacial features of Sanjad-Sakati syndrome: a case report. 61
15005702 2004
39
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. 61
10712106 2000
40
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-Intellectual Disability-Dysmorphism Syndrome

ClinVar genetic disease variations for Hypoparathyroidism-Intellectual Disability-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.*17T>C SNV Uncertain significance 875576 1:235612094-235612094 1:235448779-235448779
15 B3GALNT2 NM_003193.5(TBCE):c.*39G>A SNV Uncertain significance 875577 1:235612116-235612116 1:235448801-235448801
16 B3GALNT2 NM_003193.5(TBCE):c.*132A>G SNV Uncertain significance 875578 1:235612209-235612209 1:235448894-235448894
17 TBCE NM_003193.5(TBCE):c.446C>G (p.Ala149Gly) SNV Uncertain significance 284336 rs150187679 1:235582862-235582862 1:235419547-235419547
18 B3GALNT2 NM_003193.5(TBCE):c.*133T>G SNV Uncertain significance 876571 1:235612210-235612210 1:235448895-235448895
19 B3GALNT2 NM_003193.5(TBCE):c.*208G>A SNV Uncertain significance 876572 1:235612285-235612285 1:235448970-235448970
20 TBCE NM_003193.5(TBCE):c.253A>G (p.Ile85Val) SNV Uncertain significance 282068 rs143886167 1:235577815-235577815 1:235414500-235414500
21 B3GALNT2 NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln) SNV Uncertain significance 296313 rs140662460 1:235612070-235612070 1:235448755-235448755
22 TBCE NM_003193.5(TBCE):c.-92C>G SNV Uncertain significance 296286 rs886046147 1:235530759-235530759 1:235367444-235367444
23 TBCE NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) SNV Uncertain significance 193652 rs200022583 1:235599714-235599714 1:235436399-235436399
24 TBCE NM_003193.5(TBCE):c.737+15C>T SNV Uncertain significance 296299 rs886046150 1:235597610-235597610 1:235434295-235434295
25 TBCE NM_003193.5(TBCE):c.1263C>G (p.Leu421=) SNV Uncertain significance 296309 rs199943206 1:235602230-235602230 1:235438915-235438915
26 TBCE NM_003193.5(TBCE):c.1125C>T (p.Pro375=) SNV Uncertain significance 296306 rs762683460 1:235602092-235602092 1:235438777-235438777
27 TBCE NM_003193.5(TBCE):c.100+15T>G SNV Uncertain significance 296293 rs886046149 1:235543479-235543479 1:235380164-235380164
28 TBCE NM_003193.5(TBCE):c.422G>A (p.Cys141Tyr) SNV Uncertain significance 296294 rs372421061 1:235582838-235582838 1:235419523-235419523
29 B3GALNT2 NM_003193.5(TBCE):c.*177T>C SNV Uncertain significance 296317 rs886046153 1:235612254-235612254 1:235448939-235448939
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 B3GALNT2 NM_003193.5(TBCE):c.1400-14T>C SNV Likely benign 875575 1:235611650-235611650 1:235448335-235448335
50 TBCE NM_003193.5(TBCE):c.585C>T (p.Ser195=) SNV Likely benign 497269 rs139440109 1:235594044-235594044 1:235430729-235430729

Expression for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

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

Pathways for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

GO Terms for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Sources for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

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45 MESH via Orphanet
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