SIDDIS
MCID: SDD011
MIFTS: 23

Siddiqi Syndrome (SIDDIS)

Categories: Ear diseases, Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Siddiqi Syndrome

MalaCards integrated aliases for Siddiqi Syndrome:

Name: Siddiqi Syndrome 57 73 6 39 17
Siddis 57 73
Deafness, Dystonia, Developmental Delay, and Poor Growth 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-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:



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 05-Mar-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 : 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.

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

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 05-Mar-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 05-Mar-2021)

Drugs & Therapeutics for Siddiqi Syndrome

Search Clinical Trials , NIH Clinical Center for Siddiqi Syndrome

Genetic Tests for Siddiqi Syndrome

Anatomical Context for Siddiqi Syndrome

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
30288795 2018
2
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2. 6 57
30214770 2018
3
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. 6
28067622 2017
4
G6PD A- is the major cause of G6PD deficiency among the Siddis of Karnataka, India. 61
31833391 2020
5
Unraveling the Population History of Indian Siddis. 61
28595281 2017
6
Impact of consanguinity on cardio-metabolic health and other diseases: findings from an Afro-Indian tribal community. 61
25524067 2015
7
Genomic structure of the immigrant Siddis of East Africa to southern India: a study of 20 autosomal DNA markers. 61
21274614 2011
8
Indian Siddis: African descendants with Indian admixture. 61
21741027 2011
9
Haplotype diversity and linkage disequilibrium at the DRD2 locus among the tribes of western and southern regions of India. 61
21031052 2010
10
Genetic affinities of the Siddis of South India: an emigrant population of East Africa. 61
19130796 2008
11
Ethnomedical knowledge of plants used by Kunabi Tribe of Karnataka in India. 61
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
11571559 2001
13
The SRY-1532 site of the human Y chromosome is subject to recurrent single nucleotide mutations. 61
11332646 2001
14
Y-chromosome and mitochondrial DNA polymorphisms in Indian populations. 61
10435442 1999
15
Medical ethnobotany of the Siddis of Uttara Kannada district, Karnataka, India. 61
8569239 1995
16
Genetic studies among the Siddis of Karnataka, India: a migrant population from Africa. 61
3445677 1987

Variations for Siddiqi Syndrome

ClinVar genetic disease variations for Siddiqi Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FITM2 NM_001080472.4(FITM2):c.4G>T (p.Glu2Ter) SNV Pathogenic 692229 rs1004658892 20:42939785-42939785 20:44311145-44311145
2 FITM2 NM_001080472.4(FITM2):c.39dup (p.Thr14fs) Duplication Pathogenic 692230 rs1255226703 20:42939750-42939750 20:44311109-44311110
3 FITM2 NM_001080472.4(FITM2):c.652C>T (p.Gln218Ter) SNV Pathogenic 692231 rs773801337 20:42935402-42935402 20:44306762-44306762
4 FITM2 NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg) SNV Likely pathogenic 692232 rs765281145 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 rs765281145

Expression for Siddiqi Syndrome

Search GEO for disease gene expression data for Siddiqi Syndrome.

Pathways for Siddiqi Syndrome

GO Terms for Siddiqi Syndrome

Sources for Siddiqi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....