NIZIDS
MCID: NZN001
MIFTS: 15

Nizon-Isidor Syndrome (NIZIDS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Nizon-Isidor Syndrome

MalaCards integrated aliases for Nizon-Isidor Syndrome:

Name: Nizon-Isidor Syndrome 56 6
Nizids 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
mutations occur de novo
variable severity and manifestations
seven unrelated patients have been reported (last curated may 2020)


Classifications:



External Ids:

OMIM 56 618872

Summaries for Nizon-Isidor Syndrome

OMIM : 56 Nizon-Isidor syndrome (NIZIDS) is a neurodevelopmental disorder characterized by global developmental delay, mildly delayed walking, poor speech and language, variably impaired intellectual development, and behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD). Some patients may have additional features, including nonspecific facial dysmorphism, gastrointestinal difficulties, distal hand anomalies, and thin corpus callosum on brain imaging (summary by Nizon et al., 2019). (618872)

MalaCards based summary : Nizon-Isidor Syndrome, is also known as nizids. An important gene associated with Nizon-Isidor Syndrome is MED12L (Mediator Complex Subunit 12L). Affiliated tissues include brain and eye.

Related Diseases for Nizon-Isidor Syndrome

Symptoms & Phenotypes for Nizon-Isidor Syndrome

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
sleep disturbances
hypotonia
thin corpus callosum (in some patients)
impaired intellectual development, variable
more
Skeletal Feet:
pes planus

Neurologic Behavioral Psychiatric Manifestations:
anxiety
aggressive behavior
autistic features
attention deficit-hyperactivity disorder
behavioral abnormalities
more
Head And Neck Nose:
prominent nasal bridge
flat nasal bridge
bulbous nasal tip

Skeletal Hands:
long fingers
fifth finger brachyphalangy

Skin Nails Hair Nails:
fifth hypoplastic nails

Head And Neck Eyes:
hypertelorism
myopia
hypermetropia
downslanting palpebral fissures
deep-set eyes
more
Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
constipation
tube feeding (1 patient)

Head And Neck Mouth:
open mouth
thin upper lip
high-arched palate
small mouth
everted lower lip

Head And Neck Face:
short philtrum
pointed chin
dysmorphic facial features, variable (in some patients)

Growth Other:
poor overall growth (in some patients)

Clinical features from OMIM:

618872

Drugs & Therapeutics for Nizon-Isidor Syndrome

Search Clinical Trials , NIH Clinical Center for Nizon-Isidor Syndrome

Genetic Tests for Nizon-Isidor Syndrome

Anatomical Context for Nizon-Isidor Syndrome

MalaCards organs/tissues related to Nizon-Isidor Syndrome:

40
Brain, Eye

Publications for Nizon-Isidor Syndrome

Articles related to Nizon-Isidor Syndrome:

# Title Authors PMID Year
1
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. 56 6
31155615 2019

Variations for Nizon-Isidor Syndrome

ClinVar genetic disease variations for Nizon-Isidor Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MED12L NM_022788.5(P2RY12):c.-180+610C>TSNV Pathogenic 592166 rs1560108090 3:151101870-151101870 3:151384082-151384082
2 MED12L NM_053002.5(MED12L):c.1747dup (p.Ser583fs)duplication Pathogenic 870507 3:150906260-150906261 3:151188473-151188474
3 MED12L NM_022788.5(P2RY12):c.-180+4580C>TSNV Pathogenic 870508 3:151097900-151097900 3:151380112-151380112

Expression for Nizon-Isidor Syndrome

Search GEO for disease gene expression data for Nizon-Isidor Syndrome.

Pathways for Nizon-Isidor Syndrome

GO Terms for Nizon-Isidor Syndrome

Sources for Nizon-Isidor Syndrome

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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