MCID: CHR677
MIFTS: 12

Chromosome 1p35 Deletion Syndrome

Aliases & Classifications for Chromosome 1p35 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1p35 Deletion Syndrome:

Name: Chromosome 1p35 Deletion Syndrome 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype


HPO:

31
chromosome 1p35 deletion syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Summaries for Chromosome 1p35 Deletion Syndrome

MalaCards based summary : Chromosome 1p35 Deletion Syndrome An important gene associated with Chromosome 1p35 Deletion Syndrome is C1DELP35 (Chromosome 1p35 Deletion Syndrome). Affiliated tissues include eye, and related phenotypes are seizures and intrauterine growth retardation

More information from OMIM: 617930

Related Diseases for Chromosome 1p35 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 1p35 Deletion Syndrome

Human phenotypes related to Chromosome 1p35 Deletion Syndrome:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 31 very rare (1%) HP:0001250
2 intrauterine growth retardation 31 very rare (1%) HP:0001511
3 microcephaly 31 very rare (1%) HP:0000252
4 hypertelorism 31 HP:0000316
5 intellectual disability 31 HP:0001249
6 ataxia 31 HP:0001251
7 dysarthria 31 HP:0001260
8 high palate 31 HP:0000218
9 hearing impairment 31 HP:0000365
10 global developmental delay 31 HP:0001263
11 wide nasal bridge 31 HP:0000431
12 short stature 31 HP:0004322
13 cryptorchidism 31 HP:0000028
14 micrognathia 31 HP:0000347
15 absent speech 31 HP:0001344
16 narrow mouth 31 HP:0000160
17 thin upper lip vermilion 31 HP:0000219
18 long face 31 HP:0000276
19 myopathic facies 31 HP:0002058
20 hypermetropia 31 HP:0000540

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
almond-shaped eyes

Growth Height:
short stature

Head And Neck Face:
micrognathia
long face
myopathic face
dysmorphic facial features (in some patients)

Head And Neck Nose:
broad nasal bridge

Growth Other:
intrauterine growth retardation (in some patients)

Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
hypermetropia
delayed psychomotor development
more
Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Mouth:
thin upper lip
high-arched palate
small mouth

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Ears:
hearing impairment, variable

Clinical features from OMIM:

617930

Drugs & Therapeutics for Chromosome 1p35 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 1p35 Deletion Syndrome

Genetic Tests for Chromosome 1p35 Deletion Syndrome

Anatomical Context for Chromosome 1p35 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 1p35 Deletion Syndrome:

40
Eye

Publications for Chromosome 1p35 Deletion Syndrome

Articles related to Chromosome 1p35 Deletion Syndrome:

# Title Authors PMID Year
1
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 56
29474920 2018
2
Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay. 56
25900906 2015

Variations for Chromosome 1p35 Deletion Syndrome

Expression for Chromosome 1p35 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 1p35 Deletion Syndrome.

Pathways for Chromosome 1p35 Deletion Syndrome

GO Terms for Chromosome 1p35 Deletion Syndrome

Sources for Chromosome 1p35 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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