Woodhouse Sakati syndrome

Hypogonadism, diabetes mellitus, alopecia, mental retardation, extrapyramidal syndrome, and electrocardiographic abnormalities

Also Known As:

Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, and Alopecia; Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome; Woodhouse-Sakati Syndrome

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)
2.	Neurodegenerative Diseases (Neurodegenerative Disease)
3.	Intellectual Disability (Idiocy)
4.	Hypogonadism (Hypergonadotropic Hypogonadism)
5.	Myoclonic Epilepsies (Myoclonic Encephalopathy)

Experts

1.	Bohlega, Saeed: 2 articles (01/2022 - 12/2008)
2.	Abusrair, Ali: 1 article (01/2022)
3.	Ahmad, Ijaz: 1 article (01/2022)
4.	AlHamoud, Iftetah: 1 article (01/2022)
5.	Alotaibi, Amal: 1 article (01/2022)
6.	Fozia, Fozia: 1 article (01/2022)
7.	Khan, Saadullah: 1 article (01/2022)
8.	Khan, Sher Alam: 1 article (01/2022)
9.	Mohammad, Noor: 1 article (01/2022)
10.	Nazli, Rubina: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Woodhouse Sakati syndrome:

1.	IronIBA 01/01/2022 - "Woodhouse-Sakati syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in the DCAF17 gene, characterized by marked neurologic and endocrine manifestations in the setting of brain iron accumulation and white matter lesions on neuroimaging. " 08/01/2019 - "A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17." 12/01/2018 - "The presence of pituitary hypoplasia and white matter lesions can further distinguish Woodhouse-Sakati syndrome from other neurodegenerative diseases with brain iron accumulation subtypes."
2.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "The variant is predicted to cause aberrant splicing, i.e., exon skipping, resulting in the translation of a truncated functionless protein which results in appearance of typical phenotypic features and clinical laboratory findings of Woodhouse-Sakati syndrome in affected members of the family." 07/01/2016 - "The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. "
3.	Phospholipases A2 (Phospholipase A2)IBA 07/01/2016 - "The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. "
4.	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/01/2014 - "Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels. "
5.	Trihexyphenidyl (Artane)FDA LinkGeneric 08/01/2022 - "Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report."
6.	Phosphotransferases (Kinase)IBA 07/01/2016 - "The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. "
7.	Nuclear Proteins (Protein, Nuclear)IBA 12/01/2008 - "Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome."
8.	Coenzyme A (CoA)IBA 07/01/2016 - "The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. "
9.	Calmodulin (Calcium-Dependent Activator Protein)IBA 09/01/2023 - "These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. "
10.	Familial apoceruloplasmin deficiencyIBA 07/01/2016 - "The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. "