IDDHDF
MCID: INT330
MIFTS: 14

Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies (IDDHDF)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Hypertelorism and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:

Name: Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies 58 76 6
Iddhdf 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
one patient with a confirmed mutation in the ccnk gene has been reported (last curated october 2018)
some patients with similar features have a larger deletion involving several genes, including ccnk


Classifications:



External Ids:

OMIM 58 618147
MeSH 45 D065886
MedGen 43 CN257739

Summaries for Intellectual Developmental Disorder with Hypertelorism and...

UniProtKB/Swiss-Prot : 76 Intellectual developmental disorder with hypertelorism and distinctive facies: An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw.

MalaCards based summary : Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies, is also known as iddhdf. An important gene associated with Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies is CCNK (Cyclin K). Related phenotypes are hypertelorism and low-set ears

Description from OMIM: 618147

Related Diseases for Intellectual Developmental Disorder with Hypertelorism and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Hypertelorism and...

Human phenotypes related to Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 global developmental delay 33 HP:0001263
4 wide nasal bridge 33 HP:0000431
5 long philtrum 33 HP:0000343
6 thick nasal alae 33 HP:0009928
7 broad nasal tip 33 HP:0000455
8 long palpebral fissure 33 HP:0000637
9 high anterior hairline 33 HP:0009890
10 posteriorly rotated ears 33 HP:0000358
11 thin eyebrow 33 HP:0045074
12 narrow jaw 33 HP:0012801

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
long palpebral fissures
thin eyebrows
abnormal palpebral fissures

Neurologic Central Nervous System:
global developmental delay
poor or absent speech
impaired intellectual development
delayed fine and gross motor skills

Head And Neck Nose:
thick nasal alae
broad nasal tip
broad nasal bridge

Skeletal Hands:
tapered fingers

Head And Neck Head:
macrocephaly, mild

Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysmorphic ears

Head And Neck Face:
long philtrum
high anterior hairline
narrow jaw

Skeletal Feet:
flat feet

Head And Neck Mouth:
thin upper vermilion

Growth Other:
overgrowth, generalized

Clinical features from OMIM:

618147

Drugs & Therapeutics for Intellectual Developmental Disorder with Hypertelorism and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies

Genetic Tests for Intellectual Developmental Disorder with Hypertelorism and...

Anatomical Context for Intellectual Developmental Disorder with Hypertelorism and...

Publications for Intellectual Developmental Disorder with Hypertelorism and...

Articles related to Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:

# Title Authors Year
1
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. ( 30122539 )
2018

Variations for Intellectual Developmental Disorder with Hypertelorism and...

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:

76
# Symbol AA change Variation ID SNP ID
1 CCNK p.Lys111Glu VAR_081570

ClinVar genetic disease variations for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCNK NM_001099402.1(CCNK): c.331A> G (p.Lys111Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 99495549: 99495549
2 CCNK NM_001099402.1(CCNK): c.331A> G (p.Lys111Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 99961886: 99961886

Expression for Intellectual Developmental Disorder with Hypertelorism and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies.

Pathways for Intellectual Developmental Disorder with Hypertelorism and...

GO Terms for Intellectual Developmental Disorder with Hypertelorism and...

Sources for Intellectual Developmental Disorder with Hypertelorism and...

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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