Hypoparathyroidism- retardation- dysmorphism syndrome

Hypoparathyroidism short stature mental retardation seizures retardation, and developmental delay

Also Known As:

Hypoparathyroidism with short stature, mental retardation, and seizures; Sanjad-Sakati syndrome

Networked: 14 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Hypoparathyroidism-retardation-dysmorphism syndrome: 14
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Hypoparathyroidism-retardation-dysmorphism syndrome: 14
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Growth Disorders: 2264
    - Hypoparathyroidism-retardation-dysmorphism syndrome: 14
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Seizures: 41747
      - Hypoparathyroidism-retardation-dysmorphism syndrome: 14
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Hypoparathyroidism-retardation-dysmorphism syndrome: 14
Endocrine System Diseases: 968
- Parathyroid Diseases: 240
  - Hypoparathyroidism: 2755
    - Hypoparathyroidism-retardation-dysmorphism syndrome: 14
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Seizures: 41747
    - Hypoparathyroidism-retardation-dysmorphism syndrome: 14
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Hypoparathyroidism-retardation-dysmorphism syndrome: 14
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Hypoparathyroidism-retardation-dysmorphism syndrome: 14
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Hypoparathyroidism-retardation-dysmorphism syndrome: 14
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Hypoparathyroidism-retardation-dysmorphism syndrome: 14

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Microcephaly
3.	Intellectual Disability (Idiocy)
4.	Hypoparathyroidism

Experts

1.	Alghamdi, Sara: 1 article (03/2022)
2.	Albassam, Abdulrahman L: 1 article (03/2022)
3.	Aldhalaan, Reema S: 1 article (03/2022)
4.	Alghafees, Mohammad A: 1 article (03/2022)
5.	Aljurayyad, Abdulaziz S: 1 article (03/2022)
6.	Alkharashi, Yasser M: 1 article (03/2022)
7.	Alomar, Mohammad A: 1 article (03/2022)
8.	Alshuwaier, Khalid M: 1 article (03/2022)
9.	Seyam, Raouf M: 1 article (03/2022)
10.	Al-Abri, Al-Shaima: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hypoparathyroidism-retardation-dysmorphism syndrome:

1.	AntibodiesIBA 01/01/2016 - "Data were extracted from the medical records of patients diagnosed with Sanjad-Sakati syndrome with special emphasis on the clinical features, thyroid function, thyroid antibodies, molecular studies and other relevant investigations. "
2.	TubulinIBA 01/01/2023 - "Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency." 01/01/2020 - "Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome." 01/01/2018 - "Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is a rare autosomal recessive disorder attributed to the mutations in the tubulin-specific chaperone E (TBCE) gene, which is vital for microtubule function during mitosis, organelle positioning, and neuronal cytokinesis. " 01/01/2022 - "Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding cofactor E) gene. " 08/01/2014 - "Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43. "
3.	SolutionsIBA 01/01/2021 - "Correcting hypophosphataemia in a paediatric patient with Sanjad-Sakati syndrome through a single oral dose of potassium phosphate intravenous solution."
4.	Proteins (Proteins, Gene)FDA Link 02/01/2007 - "Understanding the in vivo function of these proteins will shed light on the Kenny-Caffey/Sanjad-Sakati syndrome, an important human disorder associated with TBCE. "
5.	Parathyroid Hormone (Parathormone)IBA 01/01/2016 - "A total of 18 patients with a diagnosis of Sanjad-Sakati Syndrome based on typical clinical features and low parathyroid hormone, were evaluated. "
6.	Hormones (Hormone)IBA 08/01/2009 - "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."
7.	Anesthetics (Anesthetic Agents)IBA 10/01/2016 - "Anesthetic management of a case of Sanjad-Sakati syndrome."
8.	calcium phosphateIBA 03/01/2022 - "A Staghorn Calcium Phosphate Stone in a Child With Sanjad-Sakati Syndrome: An Iatrogenic Manifestation?"
9.	potassium phosphate (potassium dihydrogen phosphate)IBA 01/01/2021 - "Correcting hypophosphataemia in a paediatric patient with Sanjad-Sakati syndrome through a single oral dose of potassium phosphate intravenous solution."

Therapies and Procedures

1.	Oral Hygiene (Dental Hygiene) 03/22/2022 - "The search keywords included were "Sanjad-Sakati syndrome (SSS)", "dental manifestations", "dental management", "oral health", "dental care for patients with SSS", "dental health of people with SSS", "caries", and "oral hygiene". "
2.	Dental Care 03/22/2022 - "The search keywords included were "Sanjad-Sakati syndrome (SSS)", "dental manifestations", "dental management", "oral health", "dental care for patients with SSS", "dental health of people with SSS", "caries", and "oral hygiene". "
3.	Anesthesia 11/01/2006 - "Anesthesia management for the child with Sanjad-Sakati syndrome."