SIDDIS
MCID: SDD011
MIFTS: 22
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Siddiqi Syndrome (SIDDIS)
Categories:
Ear diseases, Genetic diseases, Neuronal diseases, Skin diseases
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MalaCards integrated aliases for Siddiqi Syndrome:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset of hearing loss in infancy (around 6 months of age) Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Neuronal diseases Skin diseases Ear diseases |
OMIM :
56
Siddiqi syndrome (SIDDIS) is an autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy (summary by Zazo Seco et al., 2017). (618635)
MalaCards based summary : Siddiqi Syndrome, also known as siddis, is related to azoospermia and glucosephosphate dehydrogenase deficiency. An important gene associated with Siddiqi Syndrome is FITM2 (Fat Storage Inducing Transmembrane Protein 2). Affiliated tissues include skin. UniProtKB/Swiss-Prot : 73 Siddiqi syndrome: An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy. |
Diseases related to Siddiqi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618635 |
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MalaCards organs/tissues related to Siddiqi Syndrome:40
Skin
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Articles related to Siddiqi Syndrome:(show all 16)
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ClinVar genetic disease variations for Siddiqi Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Siddiqi Syndrome:73
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Search
GEO
for disease gene expression data for Siddiqi Syndrome.
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