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

MCID: CHR226 MIFTS: 35	Chromosome 1q41-Q42 Deletion Syndrome Categories: Fetal diseases, Genetic diseases, Rare diseases
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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 ⁵⁸ ¹² ⁵⁴ ³⁰ ¹³ ¹⁵

1q41-Q42 Microdeletion Syndrome ¹² ⁵⁴

1q41q42 Microdeletion Syndrome ¹² ⁶⁰

Holoprosencephaly 10, Included; Hpe10, Included ⁵⁸

Deletion Syndrome, Chromosome 1q41-Q42 ) ⁴¹

Holoprosencephaly 10, Included ⁵⁸

1q41-Q42 Deletion Syndrome ⁵⁴

Holoprosencephaly 10 ⁷⁴

Deletion 1q41-Q42 ⁵⁴

Monosomy 1q41-Q42 ⁵⁴

Monosomy 1q41q42 ⁶⁰

Hpe10, Included ⁵⁸

Del(1)(q41q42) ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
isolated cases

Miscellaneous:
highly variable phenotype
contiguous gene deletion syndrome
midline defects

HPO:

³³

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: ³⁴ ³⁵

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: ⁶⁰

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060412

OMIM ⁵⁸ 612530

ICD10 ³⁴ Q93.5

ICD10 via Orphanet ³⁵ Q93.5

Orphanet ⁶⁰ ORPHA250999

MedGen ⁴³ C2675857

SNOMED-CT via HPO ⁷⁰ 11375002 128602000 128613002 more

UMLS ⁷⁴ C2675857

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Summaries for Chromosome 1q41-Q42 Deletion Syndrome

NIH Rare Diseases : ⁵⁴ Chromosome 1q41-q42 deletionsyndromeis 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 alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures An important gene associated with Chromosome 1q41-Q42 Deletion Syndrome is DEL1Q41Q42 (Chromosome 1q41-Q42 Deletion Syndrome), and among its related pathways/superpathways are Hedgehog Pathway and MAPK Pathway. Affiliated tissues include brain, heart and eye, and related phenotypes are frontal bossing and intellectual disability

Description from OMIM: 612530

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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:

#	Related Disease	Score	Top Affiliating Genes
1	alacrima, achalasia, and mental retardation syndrome	10.2

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Symptoms & Phenotypes for Chromosome 1q41-Q42 Deletion Syndrome

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

⁶⁰ ³³ (show all 40)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	frontal bossing ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002007
2	intellectual disability ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001249
3	seizures ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001250
4	neonatal hypotonia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001319
5	short stature ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0004322
6	severe global developmental delay ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0011344
7	behavioral abnormality ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000708
8	depressed nasal bridge ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005280
9	thick vermilion border ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0012471
10	talipes equinovarus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001762
11	underdeveloped nasal alae ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000430
12	deeply set eye ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000490
13	small nail ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001792
14	upslanted palpebral fissure ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000582
15	broad nasal tip ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000455
16	coarse facial features ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000280
17	strabismus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000486
18	cryptorchidism ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000028
19	hypergonadotropic hypogonadism ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000815
20	holoprosencephaly ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001360
21	hypotelorism ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000601
22	congenital diaphragmatic hernia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000776
23	pulmonary hypoplasia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002089
24	submucous cleft hard palate ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000176
25	hyposegmentation of neutrophil nuclei ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0011447
26	abnormality iris morphology ³³	occasional (7.5%)		HP:0000525
27	global developmental delay ⁶⁰ ³³		Very frequent (99-80%)	HP:0001263
28	cleft palate ⁶⁰ ³³		Occasional (29-5%)	HP:0000175
29	microtia ³³			HP:0008551
30	microcephaly ³³			HP:0000252
31	anteverted nares ³³			HP:0000463
32	growth delay ⁶⁰		Very frequent (99-80%)
33	microphthalmia ³³			HP:0000568
34	abnormality of the face ⁶⁰		Very frequent (99-80%)
35	vertebral segmentation defect ³³			HP:0003422
36	abnormality of the genital system ⁶⁰		Occasional (29-5%)
37	preauricular skin tag ³³			HP:0000384
38	cleft upper lip ³³			HP:0000204
39	morphological abnormality of the central nervous system ⁶⁰		Frequent (79-30%)
40	abnormality of the iris ⁶⁰		Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Head:
frontal bossing
microcephaly

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

Neurologic Central Nervous System:
seizures
holoprosencephaly
developmental delay
mental retardation

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

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

seizures

GenomeRNAi Phenotypes related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with c-Myc after tamoxifen stimulation	GR00215-A	8.8	DISP1 GSK3B HERC1

MGI Mouse Phenotypes related to Chromosome 1q41-Q42 Deletion Syndrome:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary	MP:0005381	8.92	DISP1 GSK3B TLR5 TP53BP2

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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 ³⁰

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Anatomical Context for Chromosome 1q41-Q42 Deletion Syndrome

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

⁴²

Brain, Heart, Eye, Neutrophil, Lung, Skin

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Publications for Chromosome 1q41-Q42 Deletion Syndrome

Articles related to Chromosome 1q41-Q42 Deletion Syndrome:

#	Title	Authors	Year
1	ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. ( 27447114 )	Zak J...Lu X	2016
2	Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. ( 24357076 )	Au PY...Micheil Innes A	2014
3	New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. ( 20951845 )	Rosenfeld JA...Shaffer LG	2011

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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	508.87	Structural variation ⁵⁸ GeneCards inferred via : Gene name (show sections)
2	FBXO28	F-Box Protein 28	Protein Coding	19.5	DISEASES inferred ¹⁵
3	WDR26	WD Repeat Domain 26	Protein Coding	18.71	DISEASES inferred ¹⁵
4	DISP1	Dispatched RND Transporter Family Member 1	Protein Coding	18.06	DISEASES inferred ¹⁵
5	HERC1	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1	Protein Coding	16.53	DISEASES inferred ¹⁵
6	TP53BP2	Tumor Protein P53 Binding Protein 2	Protein Coding	16.53	DISEASES inferred ¹⁵
7	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	15.05	DISEASES inferred ¹⁵
8	TLR5	Toll Like Receptor 5	Protein Coding	13.84	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

Pathways related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Hedgehog Pathway ⁷³ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁷ Hedgehog signaling events mediated by Gli proteins ¹ Hedgehog signaling pathway ³⁸ Hedgehog Signaling Pathway ¹	11.07	DISP1 GSK3B
2	MAPK Pathway ⁷³ Show member pathways Toll-like Receptor Pathway ⁷³	10.72	GSK3B TLR5

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GO Terms for Chromosome 1q41-Q42 Deletion Syndrome

Biological processes related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of neuron death	GO:1901216	8.62	GSK3B TP53BP2

Molecular functions related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	p53 binding	GO:0002039	8.96	GSK3B TP53BP2
2	NF-kappaB binding	GO:0051059	8.62	GSK3B TP53BP2

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Sources for Chromosome 1q41-Q42 Deletion Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia