MCID: CHR677
MIFTS: 10

Chromosome 1p35 Deletion Syndrome

Aliases & Classifications for Chromosome 1p35 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1p35 Deletion Syndrome:

Name: Chromosome 1p35 Deletion Syndrome 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype


HPO:

32
chromosome 1p35 deletion syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


External Ids:

OMIM 57 617930
MedGen 42 C4693669

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 microcephaly

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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 microcephaly 32 very rare (1%) HP:0000252
3 intrauterine growth retardation 32 very rare (1%) HP:0001511
4 hypertelorism 32 HP:0000316
5 high palate 32 HP:0000218
6 intellectual disability 32 HP:0001249
7 ataxia 32 HP:0001251
8 dysarthria 32 HP:0001260
9 hearing impairment 32 HP:0000365
10 global developmental delay 32 HP:0001263
11 wide nasal bridge 32 HP:0000431
12 short stature 32 HP:0004322
13 micrognathia 32 HP:0000347
14 absent speech 32 HP:0001344
15 narrow mouth 32 HP:0000160
16 cryptorchidism 32 HP:0000028
17 long face 32 HP:0000276
18 thin upper lip vermilion 32 HP:0000219
19 myopathic facies 32 HP:0002058
20 hypermetropia 32 HP:0000540

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
almond-shaped eyes

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism

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

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:

41
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. 8
29474920 2018
2
Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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