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 ⁵⁶ ⁷³ ⁶ ³⁹ ¹⁷

Siddis ⁵⁶ ⁷³

Deafness, Dystonia, Developmental Delay, and Poor Growth ⁵⁶

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618635

MeSH ⁴³ D000015

MedGen ⁴¹ CN262532

EFO ¹⁷ EFO_0010633

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Summaries for Siddiqi Syndrome

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.

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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	azoospermia	10.2
2	glucosephosphate dehydrogenase deficiency	10.2

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Symptoms & Phenotypes for Siddiqi Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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

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)

Growth Height:
short stature

Growth Other:
failure to thrive
intrauterine growth retardation

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

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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

MalaCards organs/tissues related to Siddiqi Syndrome:

⁴⁰

Skin

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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. ⁶ ⁵⁶	Riedhammer KM...Wagner M	30288795	2018
2	The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2. ⁶ ⁵⁶	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	PubmedIds
1	FITM2	Fat Storage Inducing Transmembrane Protein 2	Protein Coding	1216.65	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	28067622 30214770 30288795

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Variations for Siddiqi Syndrome

ClinVar genetic disease variations for Siddiqi Syndrome:

⁶ ‎‎ ‎‎ ‎‎ ‎‎

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

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

⁷³

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

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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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Siddiqi Syndrome (SIDDIS)

Aliases & Classifications for Siddiqi Syndrome

MalaCards integrated aliases for Siddiqi Syndrome:

Characteristics:

OMIM:

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

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

MalaCards organs/tissues related to 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