IDDCDF
MCID: INT337
MIFTS: 19

Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies (IDDCDF)

Categories: Genetic diseases, Neuronal 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 76 6
Iddcdf 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



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

UniProtKB/Swiss-Prot : 76 Intellectual developmental disorder with cardiac defects and dysmorphic facies: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism.

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 eye, heart and brain, and related phenotypes are seizures and hypertelorism

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)

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

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

Human phenotypes related to Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies:

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 hypertelorism 33 HP:0000316
3 low-set ears 33 HP:0000369
4 global developmental delay 33 HP:0001263
5 depressed nasal bridge 33 HP:0005280
6 wide nasal bridge 33 HP:0000431
7 delayed speech and language development 33 HP:0000750
8 smooth philtrum 33 HP:0000319
9 anteverted nares 33 HP:0000463
10 strabismus 33 HP:0000486
11 patent ductus arteriosus 33 HP:0001643
12 cryptorchidism 33 HP:0000028
13 myopia 33 HP:0000545
14 hypospadias 33 HP:0000047
15 deeply set eye 33 HP:0000490
16 tetralogy of fallot 33 HP:0001636
17 ventricular septal defect 33 HP:0001629
18 pointed chin 33 HP:0000307
19 highly arched eyebrow 33 HP:0002553
20 triangular face 33 HP:0000325
21 synophrys 33 HP:0000664
22 pulmonary hypoplasia 33 HP:0002089
23 long fingers 33 HP:0100807
24 overlapping fingers 33 HP:0010557
25 patent foramen ovale 33 HP:0001655
26 pulmonary artery atresia 33 HP:0004935
27 long toe 33 HP:0010511
28 double outlet right ventricle 33 HP:0001719
29 cutaneous syndactyly 33 HP:0012725
30 overlapping toe 33 HP:0001845
31 delayed ability to walk 33 HP:0031936

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
Eye, Heart, Brain

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

Articles related to Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies:

# Title Authors Year
1
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. ( 30526868 )
2018

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 GRCh37 Chromosome 17, 73490992: 73490992
4 TMEM94 NM_014738.6(TMEM94): c.2605dup (p.Met869Asnfs) duplication Pathogenic GRCh38 Chromosome 17, 75494911: 75494911
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...

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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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