MCID: INT337
MIFTS: 13

Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Cardiac Defects and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies:

Name: Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 58 6
Iddcdf 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



External Ids:

OMIM 58 618316

Summaries for Intellectual Developmental Disorder with Cardiac Defects and...

OMIM : 58 IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (summary by Stephen et al., 2018). (618316)

MalaCards based summary : Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies, is also known as iddcdf. An important gene associated with Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies is TMEM94 (Transmembrane Protein 94). Affiliated tissues include brain, heart and eye.

Related Diseases for Intellectual Developmental Disorder with Cardiac Defects and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Cardiac Defects and...

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
myopia
synophrys
high-arched eyebrows
more
Skeletal Spine:
scoliosis

Head And Neck Face:
smooth philtrum
pointed chin
triangular face
dysmorphic facial features

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Skeletal Feet:
cutaneous syndactyly
overlapping toes
long toes

Neurologic Central Nervous System:
learning disabilities
seizures (rare)
speech delay
delayed walking
impaired intellectual development
more
Head And Neck Head:
large head circumference (in some patients)

Head And Neck Ears:
low-set ears
dysmorphic ears

Head And Neck Nose:
depressed nasal bridge
anteverted nares
broad nasal bridge

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
tetralogy of fallot
ventricular septal defect
pulmonary hypoplasia
more
Skeletal Hands:
long fingers
overlapping fingers

Head And Neck Mouth:
thin upper lip

Muscle Soft Tissue:
hypotonia (in some patients)

Growth Other:
somatic overgrowth (in some patients)

Clinical features from OMIM:

618316

Drugs & Therapeutics for Intellectual Developmental Disorder with Cardiac Defects and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies

Genetic Tests for Intellectual Developmental Disorder with Cardiac Defects and...

Anatomical Context for Intellectual Developmental Disorder with Cardiac Defects and...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies:

42
Brain, Heart, Eye

Publications for Intellectual Developmental Disorder with Cardiac Defects and...

Variations for Intellectual Developmental Disorder with Cardiac Defects and...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM94 NM_001321148.1(TMEM94): c.795-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 17, 73490987: 73490987
2 TMEM94 NM_001321148.1(TMEM94): c.795-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 17, 75489265: 75489265
3 TMEM94 NM_014738.6(TMEM94): c.2605dup (p.Met869Asnfs) duplication Pathogenic GRCh38 Chromosome 17, 75494911: 75494911
4 TMEM94 NM_014738.6(TMEM94): c.2605dup (p.Met869Asnfs) duplication Pathogenic GRCh37 Chromosome 17, 73490992: 73490992
5 TMEM94 NM_014738.6(TMEM94): c.2734C> T (p.Arg912Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 73491370: 73491370
6 TMEM94 NM_014738.6(TMEM94): c.2734C> T (p.Arg912Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 75495289: 75495289
7 TMEM94 NM_014738.6(TMEM94): c.810del (p.Asp270Glufs) deletion Pathogenic GRCh37 Chromosome 17, 73485392: 73485392
8 TMEM94 NM_014738.6(TMEM94): c.810del (p.Asp270Glufs) deletion Pathogenic GRCh38 Chromosome 17, 75489311: 75489311
9 TMEM94 NM_014738.6(TMEM94): c.3998+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 73495168: 73495168
10 TMEM94 NM_014738.6(TMEM94): c.3998+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 75499087: 75499087

Expression for Intellectual Developmental Disorder with Cardiac Defects and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies.

Pathways for Intellectual Developmental Disorder with Cardiac Defects and...

GO Terms for Intellectual Developmental Disorder with Cardiac Defects and...

Sources for Intellectual Developmental Disorder with Cardiac Defects and...

3 CDC
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
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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