IDDCDF
MCID: INT337
MIFTS: 23

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

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 56 73 29 6
Iddcdf 56 73
Tmem94-Associated Congenital Heart Defect-Facial Dysmorphism-Developmental Delay Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
intellectual developmental disorder with cardiac defects and dysmorphic facies:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


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

UniProtKB/Swiss-Prot : 73 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 generalized hypotonia

OMIM : 56 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:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
anteverted nares
broad nasal bridge

Skeletal Spine:
scoliosis

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
patent ductus arteriosus
ventricular septal defect
pulmonary hypoplasia
more
Skeletal Feet:
cutaneous syndactyly
overlapping toes
long toes

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

Head And Neck Eyes:
hypertelorism
strabismus
myopia
synophrys
high-arched eyebrows
more
Head And Neck Face:
smooth philtrum
pointed chin
triangular face
dysmorphic facial features

Head And Neck Ears:
low-set ears
dysmorphic ears

Skeletal Hands:
overlapping fingers
long 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...

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

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 29

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

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

40
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. 56 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM94 NM_014738.6(TMEM94):c.765-1G>CSNV Pathogenic 598744 rs1352010373 17:73485346-73485346 17:75489265-75489265
2 TMEM94 NM_014738.6(TMEM94):c.2605dup (p.Met869fs)duplication Pathogenic 598743 rs1163944538 17:73490986-73490987 17:75494905-75494906
3 TMEM94 NM_014738.6(TMEM94):c.2734C>T (p.Arg912Ter)SNV Pathogenic 617667 rs557746506 17:73491370-73491370 17:75495289-75495289
4 TMEM94 NM_014738.6(TMEM94):c.810del (p.Asp270fs)deletion Pathogenic 617668 rs1567950778 17:73485392-73485392 17:75489311-75489311
5 TMEM94 NM_014738.6(TMEM94):c.3998+5G>ASNV Pathogenic 617671 rs1567985127 17:73495168-73495168 17:75499087-75499087
6 TMEM94 NM_014738.6(TMEM94):c.1600C>T (p.Gln534Ter)SNV Pathogenic 915311 17:73488558-73488558 17:75492477-75492477

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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