SSS
MCID: HYP696
MIFTS: 17

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 52
Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation and Developmental Delay 52
Hypoparathyroidism with Short Stature, Intellectual Disability and Seizures 52
Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome 52
Hypoparathyroidism-Retardation-Dysmorphism Syndrome 71
Richardson-Kirk Syndrome 52
Sanjad-Sakati Syndrome 52
Hrd Syndrome 52
Sss 52

Classifications:



External Ids:

UMLS 71 C1855840

Summaries for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

NIH Rare Diseases : 52 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 sick sinus syndrome and sick sinus syndrome 2, and has symptoms including seizures Affiliated tissues include eye, thyroid and skin.

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 65)
# Related Disease Score Top Affiliating Genes
1 sick sinus syndrome 12.1
2 sick sinus syndrome 2 11.8
3 stiff skin syndrome 11.7
4 hypoparathyroidism-retardation-dysmorphism syndrome 11.7
5 subclavian steal syndrome 11.5
6 sick sinus syndrome 1 11.3
7 sinus node disease and myopia 11.2
8 sick sinus syndrome 3 11.2
9 chronic atrial and intestinal dysrhythmia 11.2
10 acrocephalopolysyndactyly type iii 11.1
11 obsolete: sakati-nyhan syndrome 11.1
12 hypoparathyroidism 11.0
13 autosomal recessive disease 10.9
14 microcephaly 10.7
15 kenny-caffey syndrome 10.6
16 kenny-caffey syndrome, type 1 10.5
17 hyperphosphatemia 10.5
18 hypothyroidism 10.5
19 dwarfism 10.5
20 hashimoto thyroiditis 10.3
21 visceral myopathy 10.3
22 strabismus 10.3
23 astigmatism 10.3
24 alacrima, achalasia, and mental retardation syndrome 10.3
25 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.3
26 deficiency anemia 10.3
27 congenital hypothyroidism 10.3
28 tooth agenesis 10.3
29 monocular esotropia 10.3
30 microphthalmia 10.3
31 alternating exotropia 10.3
32 exotropia 10.3
33 visual epilepsy 10.3
34 status epilepticus 10.3
35 dental caries 10.3
36 macrocytic anemia 10.3
37 retinal vascular disease 10.3
38 superior mesenteric artery syndrome 10.3
39 myopathy 10.3
40 thyroiditis 10.3
41 mechanical strabismus 10.3
42 esotropia 10.3
43 chronic intestinal pseudoobstruction 10.3
44 seizure disorder 10.3
45 leprosy 3 10.2
46 diarrhea 10.2
47 toxic shock syndrome 10.2
48 irritable bowel syndrome 10.2
49 hansen's disease 10.2
50 pancreatic cancer 10.1

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
Eye, Thyroid, Skin

Publications for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Articles related to Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome:

(show all 36)
# Title Authors PMID Year
1
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. 61
30638765 2019
2
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. 61
30080992 2018
3
Hypoparathyroidism in children: a study of eight cases. 61
30430523 2018
4
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. 61
29494340 2018
5
Sanjad-Sakati Syndrome: Oral Health Care. 61
29533933 2018
6
Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series. 61
28993435 2017
7
Anesthetic management of a case of Sanjad-Sakati syndrome. 61
27833494 2016
8
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. 61
28096557 2016
9
Sanjad-Sakati syndrome in a Tunisian child. 61
26231322 2015
10
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. 61
26336027 2015
11
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. 61
25097779 2014
12
Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. 61
25436165 2014
13
Status epilepticus in a child with Sanjad Sakati syndrome. 61
23378547 2013
14
Neurological manifestations in children with Sanjad-Sakati syndrome. 61
23807856 2013
15
Sanjad-sakati syndrome dental management: a case report. 61
23533822 2013
16
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). 61
23041407 2012
17
Sanjad Sakati syndrome: a case series from Jordan. 61
22764442 2012
18
Sanjad-Sakati Syndrome in Sudanese children. 61
27493305 2011
19
Sanjad-Sakati Syndrome in Omani children. 61
22043344 2010
20
Case report: Sanjad--Sakati syndrome: dental findings and treatment. 61
20507815 2010
21
Sanjad-Sakati syndrome in a neonate. 61
20519790 2010
22
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. 61
20152369 2010
23
The otolaryngologic features of Sanjad-Sakati syndrome. 61
19620595 2009
24
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. 61
19554981 2009
25
Ophthalmic features of hypoparathyroidism-retardation-dysmorphism. 61
17257873 2007
26
Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. 61
17184771 2007
27
Anesthesia management for the child with Sanjad-Sakati syndrome. 61
17040310 2006
28
Ophthalmic manifestations of Sanjad-Sakati syndrome. 61
17050283 2006
29
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. 61
16470743 2006
30
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets. 61
15852474 2005
31
Genetic diversity among the Arabs. 61
15767750 2005
32
Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome. 61
15065107 2004
33
The dentofacial features of Sanjad-Sakati syndrome: a case report. 61
15005702 2004
34
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 61
12389028 2002
35
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. 61
10712106 2000
36
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

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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72 UMLS via Orphanet
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