Siddiqi Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Siddiqi Syndrome

MalaCards integrated aliases for Siddiqi Syndrome:

Name: Siddiqi Syndrome ⁵⁷ ⁷² ⁶ ³⁹ ¹⁷

Siddis ⁵⁷ ⁷²

Deafness, Dystonia, Developmental Delay, and Poor Growth ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of hearing loss in infancy (around 6 months of age)

HPO:

³¹

siddiqi syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Skin diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618635

MeSH ⁴⁴ D000015

MedGen ⁴¹ C5231435 CN262532

SNOMED-CT via HPO ⁶⁸ 128613002 165232002 203598005 more

EFO ¹⁷ EFO_0010633

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Summaries for Siddiqi Syndrome

OMIM® : ⁵⁷ 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) (Updated 20-May-2021)

MalaCards based summary : Siddiqi Syndrome, also known as siddis, is related to glucosephosphate dehydrogenase deficiency. An important gene associated with Siddiqi Syndrome is FITM2 (Fat Storage Inducing Transmembrane Protein 2). Related phenotypes are global developmental delay and sensorineural hearing impairment

UniProtKB/Swiss-Prot : ⁷² 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.

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Related Diseases for Siddiqi Syndrome

Diseases related to Siddiqi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	glucosephosphate dehydrogenase deficiency	10.0

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Symptoms & Phenotypes for Siddiqi Syndrome

Human phenotypes related to Siddiqi Syndrome:

³¹ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	global developmental delay ³¹	very rare (1%)	HP:0001263
2	sensorineural hearing impairment ³¹	very rare (1%)	HP:0000407
3	ichthyosis ³¹	very rare (1%)	HP:0008064
4	flexion contracture ³¹	very rare (1%)	HP:0001371
5	pes cavus ³¹	very rare (1%)	HP:0001761
6	limb dystonia ³¹	very rare (1%)	HP:0002451
7	urinary incontinence ³¹	very rare (1%)	HP:0000020
8	delayed ability to walk ³¹	very rare (1%)	HP:0031936
9	seizure ³¹	very rare (1%)	HP:0001250
10	developmental regression ³¹		HP:0002376
11	lower limb amyotrophy ³¹		HP:0007210

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Growth Other:
failure to thrive
intrauterine growth retardation

Neurologic Central Nervous System:
global developmental delay
gait ataxia
poor head control
impaired intellectual development
seizures (1 patient)
more

Skeletal Feet:
pes cavus
foot deformities

Growth Weight:
low weight
low bmi

Skin Nails Hair Skin:
ichthyosis (in some patients)
hyperkeratosis, mainly at the shins (in some patients)

Abdomen Gastrointestinal:
gastrointestinal disturbances (in some patients)

Muscle Soft Tissue:
muscle weakness
hypotonia
muscle atrophy
no signs of lipodystrophy

Growth Height:
short stature

Skeletal Hands:
hypoplastic thumbs
finger contractures

Skeletal:
joint contractures

Head And Neck Ears:
hearing impairment, sensorineural, progressive
hearing loss, profound

Neurologic Peripheral Nervous System:
sensory neuropathy (in some patients)

Clinical features from OMIM®:

618635 (Updated 20-May-2021)

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Drugs & Therapeutics for Siddiqi Syndrome

Search Clinical Trials , NIH Clinical Center for Siddiqi Syndrome

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Genetic Tests for Siddiqi Syndrome

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Anatomical Context for Siddiqi Syndrome

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Publications for Siddiqi Syndrome

Articles related to Siddiqi Syndrome:

(show all 16)

#	Title	Authors	PMID	Year
1	First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome. ⁵⁷ ⁶	Riedhammer KM...Wagner M	30288795	2018
2	The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2. ⁶ ⁵⁷	Shakir A...Wierenga KJ	30214770	2018
3	A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. ⁶	Zazo Seco C...Siddiqi S	28067622	2017
4	G6PD A- is the major cause of G6PD deficiency among the Siddis of Karnataka, India. ⁶¹	Devendra R...Hegde HV	31833391	2020
5	Unraveling the Population History of Indian Siddis. ⁶¹	Das R...Upadhyai P	28595281	2017
6	Impact of consanguinity on cardio-metabolic health and other diseases: findings from an Afro-Indian tribal community. ⁶¹	Bhasin P...Kapoor S	25524067	2015
7	Genomic structure of the immigrant Siddis of East Africa to southern India: a study of 20 autosomal DNA markers. ⁶¹	Gauniyal M...Kshatriya GK	21274614	2011
8	Indian Siddis: African descendants with Indian admixture. ⁶¹	Shah AM...Thangaraj K	21741027	2011
9	Haplotype diversity and linkage disequilibrium at the DRD2 locus among the tribes of western and southern regions of India. ⁶¹	Aggarwal A...Kshatriya GK	21031052	2010
10	Genetic affinities of the Siddis of South India: an emigrant population of East Africa. ⁶¹	Gauniyal M...Kshatriya GK	19130796	2008
11	Ethnomedical knowledge of plants used by Kunabi Tribe of Karnataka in India. ⁶¹	Harsha VH...Shripathi V	12234569	2002
12	Y-chromosome SNP haplotypes suggest evidence of gene flow among caste, tribe, and the migrant Siddi populations of Andhra Pradesh, South India. ⁶¹	Ramana GV...Chakraborty R	11571559	2001
13	The SRY-1532 site of the human Y chromosome is subject to recurrent single nucleotide mutations. ⁶¹	Ramana G...Chakraborty R	11332646	2001
14	Y-chromosome and mitochondrial DNA polymorphisms in Indian populations. ⁶¹	Thangaraj K...Singh L	10435442	1999
15	Medical ethnobotany of the Siddis of Uttara Kannada district, Karnataka, India. ⁶¹	Bhandary MJ...Kaveriappa KM	8569239	1995
16	Genetic studies among the Siddis of Karnataka, India: a migrant population from Africa. ⁶¹	Vijayakumar M...Mukherjee BN	3445677	1987

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Genes for Siddiqi Syndrome

Genes related to Siddiqi Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FITM2	Fat Storage Inducing Transmembrane Protein 2	Protein Coding	1241.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	28067622 30288795

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Variations for Siddiqi Syndrome

ClinVar genetic disease variations for Siddiqi Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FITM2	NM_001080472.4(FITM2):c.4G>T (p.Glu2Ter)	SNV	Pathogenic	692229	rs1004658892	GRCh37: 20:42939785-42939785 GRCh38: 20:44311145-44311145
2	FITM2	NM_001080472.4(FITM2):c.39dup (p.Thr14fs)	Duplication	Pathogenic	692230	rs1255226703	GRCh37: 20:42939750-42939750 GRCh38: 20:44311109-44311110
3	FITM2	NM_001080472.4(FITM2):c.652C>T (p.Gln218Ter)	SNV	Pathogenic	692231	rs773801337	GRCh37: 20:42935402-42935402 GRCh38: 20:44306762-44306762
4	FITM2	NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg)	SNV	Likely pathogenic	692232	rs765281145	GRCh37: 20:42935360-42935360 GRCh38: 20:44306720-44306720

UniProtKB/Swiss-Prot genetic disease variations for Siddiqi Syndrome:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	FITM2	p.Gly232Arg	VAR_083499	rs765281145

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Expression for Siddiqi Syndrome

Search GEO for disease gene expression data for Siddiqi Syndrome.

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Pathways for Siddiqi Syndrome

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GO Terms for Siddiqi Syndrome

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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

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⁷³ Wikipedia

Siddiqi Syndrome (SIDDIS)

Aliases & Classifications for Siddiqi Syndrome

MalaCards integrated aliases for Siddiqi Syndrome:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Siddiqi Syndrome

Related Diseases for Siddiqi Syndrome

Diseases related to Siddiqi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Siddiqi Syndrome

Human phenotypes related to Siddiqi Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Siddiqi Syndrome

Genetic Tests for Siddiqi Syndrome

Anatomical Context for Siddiqi Syndrome

Publications for Siddiqi Syndrome

Articles related to Siddiqi Syndrome:

Genes for Siddiqi Syndrome

Genes related to Siddiqi Syndrome (1 elite genes):

Variations for Siddiqi Syndrome

ClinVar genetic disease variations for Siddiqi Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Siddiqi Syndrome:

Expression for Siddiqi Syndrome

Pathways for Siddiqi Syndrome

GO Terms for Siddiqi Syndrome

Sources for Siddiqi Syndrome