IDDCDF
MCID: INT337
MIFTS: 20

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 57 74 6
Iddcdf 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
intellectual developmental disorder with cardiac defects and dysmorphic facies:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 618316
MeSH 44 D065886
MedGen 42 CN258197

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

UniProtKB/Swiss-Prot : 74 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 macrocephaly and seizures

OMIM : 57 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:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 very rare (1%) HP:0000256
2 seizures 32 very rare (1%) HP:0001250
3 generalized hypotonia 32 very rare (1%) HP:0001290
4 hypertelorism 32 HP:0000316
5 low-set ears 32 HP:0000369
6 scoliosis 32 HP:0002650
7 global developmental delay 32 HP:0001263
8 depressed nasal bridge 32 HP:0005280
9 wide nasal bridge 32 HP:0000431
10 delayed speech and language development 32 HP:0000750
11 smooth philtrum 32 HP:0000319
12 anteverted nares 32 HP:0000463
13 highly arched eyebrow 32 HP:0002553
14 strabismus 32 HP:0000486
15 patent ductus arteriosus 32 HP:0001643
16 cryptorchidism 32 HP:0000028
17 myopia 32 HP:0000545
18 hypospadias 32 HP:0000047
19 deeply set eye 32 HP:0000490
20 tetralogy of fallot 32 HP:0001636
21 ventricular septal defect 32 HP:0001629
22 thin upper lip vermilion 32 HP:0000219
23 pointed chin 32 HP:0000307
24 triangular face 32 HP:0000325
25 synophrys 32 HP:0000664
26 pulmonary hypoplasia 32 HP:0002089
27 long fingers 32 HP:0100807
28 overlapping fingers 32 HP:0010557
29 patent foramen ovale 32 HP:0001655
30 pulmonary artery atresia 32 HP:0004935
31 long toe 32 HP:0010511
32 double outlet right ventricle 32 HP:0001719
33 cutaneous syndactyly 32 HP:0012725
34 overlapping toe 32 HP:0001845
35 delayed ability to walk 32 HP:0031936

Symptoms via clinical synopsis from OMIM:

57
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:

41
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 PMID Year
1
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 8 71
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 GRCh37 Pos GRCh38 Pos
1 TMEM94 NM_014738.6(TMEM94): c.765-1G> C single nucleotide variant Pathogenic 17:73490987-73490987 17:75489265-75489265
2 TMEM94 NM_014738.6(TMEM94): c.2605dup (p.Met869fs) duplication Pathogenic 17:73490992-73490992 17:75494911-75494911
3 TMEM94 NM_014738.6(TMEM94): c.2734C> T (p.Arg912Ter) single nucleotide variant Pathogenic 17:73491370-73491370 17:75495289-75495289
4 TMEM94 NM_014738.6(TMEM94): c.810del (p.Asp270fs) deletion Pathogenic 17:73485392-73485392 17:75489311-75489311
5 TMEM94 NM_014738.6(TMEM94): c.3998+5G> A single nucleotide variant Pathogenic 17:73495168-73495168 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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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