Chromosome 1q41-Q42 Deletion Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR226 MIFTS: 31	Chromosome 1q41-Q42 Deletion Syndrome Categories: Fetal diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Chromosome 1q41-Q42 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1q41-Q42 Deletion Syndrome:

Name: Chromosome 1q41-Q42 Deletion Syndrome ⁵⁷ ¹² ²⁰ ²⁹ ¹³ ¹⁵

1q41-Q42 Microdeletion Syndrome ¹² ²⁰

1q41q42 Microdeletion Syndrome ¹² ⁵⁸

Holoprosencephaly 10, Included; Hpe10, Included ⁵⁷

Deletion Syndrome, Chromosome 1q41-Q42 ³⁹

Holoprosencephaly 10, Included ⁵⁷

1q41-Q42 Deletion Syndrome ²⁰

Holoprosencephaly 10 ⁷¹

Deletion 1q41-Q42 ²⁰

Monosomy 1q41-Q42 ²⁰

Monosomy 1q41q42 ⁵⁸

Hpe10, Included ⁵⁷

Del(1)(q41q42) ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

1q41q42 microdeletion syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
isolated cases

Miscellaneous:
highly variable phenotype
contiguous gene deletion syndrome
midline defects

HPO:

³¹

chromosome 1q41-q42 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Monosomies and deletions from the autosomes, not elsewhere classified

Other deletions of part of a chromosome

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060412

OMIM® ⁵⁷ 612530

OMIM Phenotypic Series ⁵⁷ PS236100

ICD10 ³² Q93.5

ICD10 via Orphanet ³³ Q93.5

Orphanet ⁵⁸ ORPHA250999

MedGen ⁴¹ C2675857

UMLS ⁷¹ C2675857

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Summaries for Chromosome 1q41-Q42 Deletion Syndrome

GARD : ²⁰ Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of at least four genes.

MalaCards based summary : Chromosome 1q41-Q42 Deletion Syndrome, also known as 1q41-q42 microdeletion syndrome, is related to wdr26-related intellectual disability and cleft palate, isolated, and has symptoms including seizures An important gene associated with Chromosome 1q41-Q42 Deletion Syndrome is DEL1Q41Q42 (Chromosome 1q41-Q42 Deletion Syndrome). Affiliated tissues include eye, neutrophil and lung, and related phenotypes are intellectual disability and frontal bossing

Disease Ontology : ¹² A chromosomal deletion syndrome that has material basis in deletion of the chromosome 1q41-q42 region.

More information from OMIM: 612530 PS236100

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Related Diseases for Chromosome 1q41-Q42 Deletion Syndrome

Diseases related to Chromosome 1q41-Q42 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score
1	wdr26-related intellectual disability	10.4
2	cleft palate, isolated	10.3
3	diaphragmatic hernia, congenital	10.3
4	fryns syndrome	10.3
5	alacrima, achalasia, and mental retardation syndrome	10.3
6	coloboma of macula	10.1
7	pelger-huet anomaly	10.1
8	neural tube defects	10.1
9	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	10.1
10	microphthalmia	10.1
11	holoprosencephaly	10.1
12	cleft lip	10.1
13	seizure disorder	10.1

Graphical network of the top 20 diseases related to Chromosome 1q41-Q42 Deletion Syndrome:

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Symptoms & Phenotypes for Chromosome 1q41-Q42 Deletion Syndrome

Human phenotypes related to Chromosome 1q41-Q42 Deletion Syndrome:

⁵⁸ ³¹ (show all 40)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	frontal bossing ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002007
3	neonatal hypotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001319
4	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
5	severe global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011344
6	seizure ³¹	hallmark (90%)		HP:0001250
7	depressed nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005280
8	behavioral abnormality ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000708
9	thick vermilion border ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012471
10	talipes equinovarus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001762
11	upslanted palpebral fissure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000582
12	deeply set eye ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000490
13	underdeveloped nasal alae ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000430
14	broad nasal tip ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000455
15	small nail ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001792
16	coarse facial features ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000280
17	strabismus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000486
18	cryptorchidism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000028
19	holoprosencephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001360
20	congenital diaphragmatic hernia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000776
21	hypotelorism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000601
22	hypergonadotropic hypogonadism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000815
23	submucous cleft hard palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000176
24	pulmonary hypoplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002089
25	abnormality iris morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000525
26	hyposegmentation of neutrophil nuclei ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011447
27	global developmental delay ⁵⁸ ³¹		Very frequent (99-80%)	HP:0001263
28	cleft palate ⁵⁸ ³¹		Occasional (29-5%)	HP:0000175
29	seizures ⁵⁸		Very frequent (99-80%)
30	microtia ³¹			HP:0008551
31	microcephaly ³¹			HP:0000252
32	anteverted nares ³¹			HP:0000463
33	growth delay ⁵⁸		Very frequent (99-80%)
34	abnormality of the face ⁵⁸		Very frequent (99-80%)
35	cleft upper lip ³¹			HP:0000204
36	microphthalmia ³¹			HP:0000568
37	preauricular skin tag ³¹			HP:0000384
38	vertebral segmentation defect ³¹			HP:0003422
39	abnormality of the genital system ⁵⁸		Occasional (29-5%)
40	morphological abnormality of the central nervous system ⁵⁸		Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
seizures
holoprosencephaly
developmental delay
mental retardation

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Mouth:
cleft palate

Head And Neck Eyes:
hypotelorism
deep-set eyes
upslanting palpebral fissures

Skeletal Feet:
club feet

Respiratory Lung:
lung hypoplasia in those with diaphragmatic hernia

Head And Neck Head:
frontal bossing
microcephaly

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
coarse facies
dysmorphic features

Chest Diaphragm:
diaphragmatic hernia

Clinical features from OMIM®:

612530 (Updated 05-Mar-2021)

UMLS symptoms related to Chromosome 1q41-Q42 Deletion Syndrome:

seizures

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Drugs & Therapeutics for Chromosome 1q41-Q42 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 1q41-Q42 Deletion Syndrome

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Genetic Tests for Chromosome 1q41-Q42 Deletion Syndrome

Genetic tests related to Chromosome 1q41-Q42 Deletion Syndrome:

#	Genetic test	Affiliating Genes
1	Chromosome 1q41-Q42 Deletion Syndrome ²⁹

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Anatomical Context for Chromosome 1q41-Q42 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 1q41-Q42 Deletion Syndrome:

⁴⁰

Eye, Neutrophil, Lung, Brain

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Publications for Chromosome 1q41-Q42 Deletion Syndrome

Articles related to Chromosome 1q41-Q42 Deletion Syndrome:

(show all 12)

#	Title	Authors	PMID	Year
1	Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. ⁵⁷	Wat MJ...Scott DA	21525063	2011
2	Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. ⁵⁷	Kantarci S...Pober BR	20799323	2010
3	Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. ⁵⁷	Filges I...Miny P	20358614	2010
4	Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. ⁵⁷	Roessler E...Muenke M	19184110	2009
5	The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. ⁵⁷	Shaffer LG...Shaikh T	17873649	2007
6	Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. ⁵⁷	Slavotinek AM...Pennacchio LA	16736036	2006
7	Holoprosencephaly: a paradigm for the complex genetics of brain development. ⁵⁷	Roessler E...Muenke M	9728329	1998
8	Fryns syndrome survivors and neurologic outcome. ⁵⁷	Van Hove JL...Kahler SG	8599357	1995
9	Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. ⁵⁷	Smith SA...Young ID	7894732	1994
10	Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. ²⁰	Au PY...Micheil Innes A	24357076	2014
11	FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. ⁶¹	Schneider AL...Scheffer IE	33280099	2021
12	A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype. ⁶¹	Balak C...Narayanan V	30160831	2018

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Genes for Chromosome 1q41-Q42 Deletion Syndrome

Genes related to Chromosome 1q41-Q42 Deletion Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DEL1Q41Q42	Chromosome 1q41-Q42 Deletion Syndrome	Genetic Locus	508.93	Structural variation ⁵⁷ GeneCards inferred via : Gene name (show sections)
2	FBXO28	F-Box Protein 28	Protein Coding	9.34	DISEASES inferred ¹⁵
3	WDR26	WD Repeat Domain 26	Protein Coding	8.75	DISEASES inferred ¹⁵
4	DISP1	Dispatched RND Transporter Family Member 1	Protein Coding	8.42	DISEASES inferred ¹⁵
5	SUSD4	Sushi Domain Containing 4	Protein Coding	7.14	DISEASES inferred ¹⁵
6	TP53BP2	Tumor Protein P53 Binding Protein 2	Protein Coding	6.49	DISEASES inferred ¹⁵

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Variations for Chromosome 1q41-Q42 Deletion Syndrome

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Expression for Chromosome 1q41-Q42 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 1q41-Q42 Deletion Syndrome.

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Pathways for Chromosome 1q41-Q42 Deletion Syndrome

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GO Terms for Chromosome 1q41-Q42 Deletion Syndrome

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Sources for Chromosome 1q41-Q42 Deletion Syndrome

¹ BioSystems

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³² ICD10

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⁴⁰ MalaCards

⁴¹ MedGen

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⁵² NIH Clinical Center

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia