MCID: CHR226
MIFTS: 37

Chromosome 1q41-Q42 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

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 53 29 13 15
1q41-Q42 Microdeletion Syndrome 12 53 59
1q41q42 Microdeletion Syndrome 12 59
Monosomy 1q41-Q42 53 59
Holoprosencephaly 10, Included; Hpe10, Included 57
Deletion Syndrome, Chromosome 1q41-Q42 ) 40
Holoprosencephaly 10, Included 57
1q41-Q42 Deletion Syndrome 53
Holoprosencephaly 10 73
Deletion 1q41-Q42 53
Monosomy 1q41q42 59
Hpe10, Included 57
Del(1)(q41q42) 59

Characteristics:

Orphanet epidemiological data:

59
1q41q42 microdeletion syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
highly variable phenotype
contiguous gene deletion syndrome
midline defects


HPO:

32
chromosome 1q41-q42 deletion syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 1q41-Q42 Deletion Syndrome

NIH Rare Diseases : 53 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

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

Symptoms & Phenotypes for Chromosome 1q41-Q42 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
5 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
6 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
7 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
8 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
9 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 cleft palate 59 32 Occasional (29-5%) HP:0000175
12 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
13 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
14 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
15 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
16 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
17 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
18 hypergonadotropic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000815
19 small nail 59 32 frequent (33%) Frequent (79-30%) HP:0001792
20 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
21 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
22 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
23 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
24 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
25 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
26 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
27 hyposegmentation of neutrophil nuclei 59 32 occasional (7.5%) Occasional (29-5%) HP:0011447
28 microtia 32 HP:0008551
29 microcephaly 32 HP:0000252
30 anteverted nares 32 HP:0000463
31 growth delay 59 Very frequent (99-80%)
32 microphthalmia 32 HP:0000568
33 abnormality of the face 59 Very frequent (99-80%)
34 vertebral segmentation defect 32 HP:0003422
35 abnormality of the genital system 59 Occasional (29-5%)
36 preauricular skin tag 32 HP:0000384
37 cleft upper lip 32 HP:0000204
38 morphological abnormality of the central nervous system 59 Frequent (79-30%)
39 abnormality of the iris 59 Occasional (29-5%)
40 abnormality iris morphology 32 occasional (7.5%) HP:0000525

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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 DISP1 GSK3B TLR5 TP53BP2

Drugs & Therapeutics for Chromosome 1q41-Q42 Deletion Syndrome

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

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

Anatomical Context for Chromosome 1q41-Q42 Deletion Syndrome

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

41
Brain, Heart, Eye, Lung, Skin, Neutrophil

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 )
2016
2
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. ( 24357076 )
2014
3
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. ( 20951845 )
2011

Variations for Chromosome 1q41-Q42 Deletion Syndrome

Expression for Chromosome 1q41-Q42 Deletion Syndrome

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

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
Show member pathways
11.07 DISP1 GSK3B
2
Show member pathways
10.72 GSK3B TLR5

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

Sources for Chromosome 1q41-Q42 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....