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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype


HPO:

32
chromosome 1p35 deletion syndrome:
Onset and clinical course phenotypic variability 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 hypertelorism and high palate

Description from OMIM: 617930

Related Diseases for Chromosome 1p35 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 1p35 Deletion Syndrome

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 Mouth:
high-arched palate
small mouth
thin upper lip

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 Nose:
broad nasal bridge

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Ears:
hearing impairment, variable


Clinical features from OMIM:

617930

Human phenotypes related to Chromosome 1p35 Deletion Syndrome:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 high palate 32 HP:0000218
3 intellectual disability 32 HP:0001249
4 seizures 32 very rare (1%) HP:0001250
5 ataxia 32 HP:0001251
6 dysarthria 32 HP:0001260
7 global developmental delay 32 HP:0001263
8 micrognathia 32 HP:0000347
9 absent speech 32 HP:0001344
10 narrow mouth 32 HP:0000160
11 long face 32 HP:0000276
12 thin upper lip vermilion 32 HP:0000219
13 myopathic facies 32 HP:0002058
14 hypermetropia 32 HP:0000540

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

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 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....