IDDSFAS
MCID: INT343
MIFTS: 20

Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects (IDDSFAS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Short Stature, Facial...

MalaCards integrated aliases for Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects:

Name: Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 57 72 36
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 57 6
Iddsfas 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
skeletal manifestations were only observed in 1 family (family a)
three unrelated families have been reported (last curated april 2019)


HPO:

31
intellectual developmental disorder with short stature, facial anomalies, and speech defects:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Short Stature, Facial...

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder with short stature, facial anomalies, and speech defects: An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations.

MalaCards based summary : Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects, is also known as mental retardation, short stature, facial anomalies, and joint dislocations. An important gene associated with Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects is FBXL3 (F-Box And Leucine Rich Repeat Protein 3), and among its related pathways/superpathways is Circadian rhythm. Related phenotypes are microcephaly and ptosis

KEGG : 36 Intellectual developmental disorder with short stature, facial anomalies, and speech defects (IDDSFAS) is a syndromic autosomal recessive developmental delay and intellectual disability. It has been reported mutations in FBXL3 cause this disease.

More information from OMIM: 606220

Related Diseases for Intellectual Developmental Disorder with Short Stature, Facial...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Short Stature, Facial...

Human phenotypes related to Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 ptosis 31 HP:0000508
3 dysarthria 31 HP:0001260
4 high palate 31 HP:0000218
5 global developmental delay 31 HP:0001263
6 wide nasal bridge 31 HP:0000431
7 delayed speech and language development 31 HP:0000750
8 short stature 31 HP:0004322
9 strabismus 31 HP:0000486
10 short 4th metacarpal 31 HP:0010044
11 joint laxity 31 HP:0001388
12 joint dislocation 31 HP:0001373
13 microretrognathia 31 HP:0000308
14 short clavicles 31 HP:0000894
15 prominent nose 31 HP:0000448
16 poor speech 31 HP:0002465
17 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
strabismus

Growth Height:
short stature

Head And Neck Nose:
broad nasal bridge
bulbous tip
large nose

Head And Neck Head:
microcephaly (1 patient)

Skeletal:
joint laxity (family a)

Skeletal Limbs:
joint dislocations (family a)
short distal ends of ulnae (family a)

Neurologic Behavioral Psychiatric Manifestations:
shy behavior
odd behavior

Neurologic Central Nervous System:
dysarthria
global developmental delay
poor speech
delayed walking
delayed speech
more
Head And Neck Face:
microretrognathia

Head And Neck Mouth:
high-arched palate

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic clavicles (family a)

Skeletal Skull:
widened mandibular angles (family a)

Skeletal Hands:
short fourth metacarpals (family a)

Clinical features from OMIM®:

606220 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Short Stature, Facial...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects

Genetic Tests for Intellectual Developmental Disorder with Short Stature, Facial...

Anatomical Context for Intellectual Developmental Disorder with Short Stature, Facial...

Publications for Intellectual Developmental Disorder with Short Stature, Facial...

Articles related to Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects:

# Title Authors PMID Year
1
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 6 57
30481285 2019
2
Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome. 6 57
11477608 2001
3
The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period. 57
17463252 2007

Variations for Intellectual Developmental Disorder with Short Stature, Facial...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBXL3 NM_012158.3(FBXL3):c.445C>T (p.Arg149Ter) SNV Pathogenic 625419 rs374431043 GRCh37: 13:77592761-77592761
GRCh38: 13:77018626-77018626
2 FBXL3 NM_012158.3(FBXL3):c.884del (p.Leu295fs) Deletion Pathogenic 625420 rs764008859 GRCh37: 13:77581683-77581683
GRCh38: 13:77007548-77007548
3 FBXL3 NM_012158.3(FBXL3):c.1072T>C (p.Cys358Arg) SNV Pathogenic 625421 rs1566225872 GRCh37: 13:77581495-77581495
GRCh38: 13:77007360-77007360

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects:

72
# Symbol AA change Variation ID SNP ID
1 FBXL3 p.Cys358Arg VAR_082210 rs156622587

Expression for Intellectual Developmental Disorder with Short Stature, Facial...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects.

Pathways for Intellectual Developmental Disorder with Short Stature, Facial...

Pathways related to Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects according to KEGG:

36
# Name Kegg Source Accession
1 Circadian rhythm hsa04710

GO Terms for Intellectual Developmental Disorder with Short Stature, Facial...

Sources for Intellectual Developmental Disorder with Short Stature, Facial...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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