IDDHDF
MCID: INT330
MIFTS: 16

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 57 73 6
Iddhdf 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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


HPO:

31
intellectual developmental disorder with hypertelorism and distinctive facies:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Hypertelorism and...

UniProtKB/Swiss-Prot : 73 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 macrocephaly and global developmental delay

More information 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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 global developmental delay 31 HP:0001263
3 hypertelorism 31 HP:0000316
4 wide nasal bridge 31 HP:0000431
5 pes planus 31 HP:0001763
6 thick nasal alae 31 HP:0009928
7 low-set ears 31 HP:0000369
8 long philtrum 31 HP:0000343
9 high anterior hairline 31 HP:0009890
10 tapered finger 31 HP:0001182
11 posteriorly rotated ears 31 HP:0000358
12 broad nasal tip 31 HP:0000455
13 long palpebral fissure 31 HP:0000637
14 thin eyebrow 31 HP:0045074
15 narrow jaw 31 HP:0012801

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
global developmental delay
impaired intellectual development
poor or absent speech
delayed fine and gross motor skills

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

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

Skeletal Hands:
tapered fingers

Head And Neck Head:
macrocephaly, mild

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

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

Skeletal Feet:
flat feet

Head And Neck Mouth:
thin upper vermilion

Growth Other:
overgrowth, generalized

Clinical features from OMIM®:

618147 (Updated 05-Mar-2021)

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 PMID Year
1
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. 6 57
30122539 2018
2
The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes. 57
22012619 2011

Variations for Intellectual Developmental Disorder with Hypertelorism and...

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCNK NM_001099402.2(CCNK):c.331A>G (p.Lys111Glu) SNV Pathogenic 585310 rs1566748800 14:99961886-99961886 14:99495549-99495549

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

73
# Symbol AA change Variation ID SNP ID
1 CCNK p.Lys111Glu VAR_081570 rs156674880

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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