MCID: IMM056
MIFTS: 25

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency-Centromeric Instability-Facial Anomalies...

MalaCards integrated aliases for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2:

Name: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 57 12 75 29 6 15 73
Icf2 57 75
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 2 40
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 13
Icf Syndrome 2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood may occur due to infection


HPO:

32
immunodeficiency-centromeric instability-facial anomalies syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency-Centromeric Instability-Facial Anomalies...

OMIM : 57 Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860). (614069)

MalaCards based summary : Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2, also known as icf2, is related to immunodeficiency-centromeric instability-facial anomalies syndrome and combined immunodeficiency, x-linked. An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 is ZBTB24 (Zinc Finger And BTB Domain Containing 24). Affiliated tissues include b cells, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has material basis in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21.

UniProtKB/Swiss-Prot : 75 Immunodeficiency-centromeric instability-facial anomalies syndrome 2: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.

Related Diseases for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Diseases related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency-centromeric instability-facial anomalies syndrome 28.0 LOC105377935 MICAL1 ZBTB24
2 combined immunodeficiency, x-linked 10.2
3 aging 10.2
4 kabuki syndrome 1 9.2 LOC105377935 ZBTB24

Symptoms & Phenotypes for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Face:
retrognathia
round face
small chin

Respiratory Lung:
pneumonia

Head And Neck Nose:
small nose
flat nasal bridge
upturned nose

Respiratory Airways:
chronic bronchitis

Abdomen Gastrointestinal:
gastroenteritis

Head And Neck Ears:
low-set ears

Immunology:
recurrent infections
hypogammaglobulinemia
opportunistic infections
normal numbers of absolute b cells
reduced number of memory b cells

Neurologic Central Nervous System:
delayed motor development
mental retardation

Head And Neck Mouth:
high-arched palate

Growth Other:
poor growth

Laboratory Abnormalities:
hypomethylation of alpha-satellite repeats on chromosome 9
hypomethylation of satellite repeats on chromosome 1, 9, and 16
chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16


Clinical features from OMIM:

614069

Human phenotypes related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 high palate 32 HP:0000218
4 intellectual disability 32 HP:0001249
5 depressed nasal bridge 32 HP:0005280
6 short nose 32 HP:0003196
7 anteverted nares 32 HP:0000463
8 immunodeficiency 32 HP:0002721
9 retrognathia 32 HP:0000278
10 epicanthus 32 HP:0000286
11 growth delay 32 HP:0001510
12 decreased antibody level in blood 32 HP:0004313
13 round face 32 HP:0000311
14 motor delay 32 HP:0001270
15 pneumonia 32 HP:0002090
16 short chin 32 HP:0000331
17 chronic bronchitis 32 HP:0004469

Drugs & Therapeutics for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2

Genetic Tests for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Genetic tests related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2:

# Genetic test Affiliating Genes
1 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 29 ZBTB24

Anatomical Context for Immunodeficiency-Centromeric Instability-Facial Anomalies...

MalaCards organs/tissues related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2:

41
B Cells

Publications for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Articles related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2:

# Title Authors Year
1
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2). ( 25330735 )
2014

Variations for Immunodeficiency-Centromeric Instability-Facial Anomalies...

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 ZBTB24 p.Cys408Gly VAR_065846 rs387907105

ClinVar genetic disease variations for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2:

6
(show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZBTB24 NM_014797.2(ZBTB24): c.958C> T (p.Arg320Ter) single nucleotide variant Pathogenic rs387907104 GRCh37 Chromosome 6, 109798128: 109798128
2 ZBTB24 NM_014797.2(ZBTB24): c.958C> T (p.Arg320Ter) single nucleotide variant Pathogenic rs387907104 GRCh38 Chromosome 6, 109476925: 109476925
3 ZBTB24 ZBTB24, SER16TER single nucleotide variant Pathogenic
4 ZBTB24 ZBTB24, SER278TER undetermined variant Pathogenic
5 ZBTB24 NM_014797.2(ZBTB24): c.1222T> G (p.Cys408Gly) single nucleotide variant Pathogenic rs387907105 GRCh37 Chromosome 6, 109796668: 109796668
6 ZBTB24 NM_014797.2(ZBTB24): c.1222T> G (p.Cys408Gly) single nucleotide variant Pathogenic rs387907105 GRCh38 Chromosome 6, 109475465: 109475465
7 ZBTB24 NM_014797.2(ZBTB24): c.1369C> T (p.Arg457Ter) single nucleotide variant Pathogenic rs387907106 GRCh37 Chromosome 6, 109788857: 109788857
8 ZBTB24 NM_014797.2(ZBTB24): c.1369C> T (p.Arg457Ter) single nucleotide variant Pathogenic rs387907106 GRCh38 Chromosome 6, 109467654: 109467654
9 ZBTB24 ZBTB24, 2-BP DEL, 396TA deletion Pathogenic
10 ZBTB24 NM_014797.2(ZBTB24): c.146G> A (p.Arg49Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147441359 GRCh38 Chromosome 6, 109481881: 109481881
11 ZBTB24 NM_014797.2(ZBTB24): c.146G> A (p.Arg49Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147441359 GRCh37 Chromosome 6, 109803084: 109803084
12 ZBTB24 NM_014797.2(ZBTB24): c.1666G> A (p.Val556Ile) single nucleotide variant Uncertain significance rs778110573 GRCh37 Chromosome 6, 109787482: 109787482
13 ZBTB24 NM_014797.2(ZBTB24): c.1666G> A (p.Val556Ile) single nucleotide variant Uncertain significance rs778110573 GRCh38 Chromosome 6, 109466279: 109466279
14 ZBTB24 NM_014797.2(ZBTB24): c.1389C> G (p.Ser463=) single nucleotide variant Benign rs2232447 GRCh37 Chromosome 6, 109787759: 109787759
15 ZBTB24 NM_014797.2(ZBTB24): c.1389C> G (p.Ser463=) single nucleotide variant Benign rs2232447 GRCh38 Chromosome 6, 109466556: 109466556
16 ZBTB24 NM_014797.2(ZBTB24): c.14C> T (p.Ser5Leu) single nucleotide variant Benign rs192918926 GRCh38 Chromosome 6, 109482013: 109482013
17 ZBTB24 NM_014797.2(ZBTB24): c.14C> T (p.Ser5Leu) single nucleotide variant Benign rs192918926 GRCh37 Chromosome 6, 109803216: 109803216
18 ZBTB24 NM_014797.2(ZBTB24): c.1552G> A (p.Ala518Thr) single nucleotide variant Benign rs2232448 GRCh38 Chromosome 6, 109466393: 109466393
19 ZBTB24 NM_014797.2(ZBTB24): c.1552G> A (p.Ala518Thr) single nucleotide variant Benign rs2232448 GRCh37 Chromosome 6, 109787596: 109787596
20 ZBTB24 NM_014797.2(ZBTB24): c.1701C> T (p.Pro567=) single nucleotide variant Benign rs2232449 GRCh38 Chromosome 6, 109466244: 109466244
21 ZBTB24 NM_014797.2(ZBTB24): c.1701C> T (p.Pro567=) single nucleotide variant Benign rs2232449 GRCh37 Chromosome 6, 109787447: 109787447
22 ZBTB24 NM_014797.2(ZBTB24): c.579G> A (p.Gln193=) single nucleotide variant Benign rs2227263 GRCh38 Chromosome 6, 109481448: 109481448
23 ZBTB24 NM_014797.2(ZBTB24): c.579G> A (p.Gln193=) single nucleotide variant Benign rs2227263 GRCh37 Chromosome 6, 109802651: 109802651
24 ZBTB24 NM_014797.2(ZBTB24): c.1750A> T (p.Met584Leu) single nucleotide variant Uncertain significance rs139491074 GRCh38 Chromosome 6, 109466195: 109466195
25 ZBTB24 NM_014797.2(ZBTB24): c.1750A> T (p.Met584Leu) single nucleotide variant Uncertain significance rs139491074 GRCh37 Chromosome 6, 109787398: 109787398
26 ZBTB24 NM_014797.2(ZBTB24): c.1672G> A (p.Asp558Asn) single nucleotide variant Benign rs61731736 GRCh38 Chromosome 6, 109466273: 109466273
27 ZBTB24 NM_014797.2(ZBTB24): c.1672G> A (p.Asp558Asn) single nucleotide variant Benign rs61731736 GRCh37 Chromosome 6, 109787476: 109787476
28 ZBTB24 NM_014797.2(ZBTB24): c.1237C> T (p.Arg413Cys) single nucleotide variant Uncertain significance rs149690823 GRCh38 Chromosome 6, 109475450: 109475450
29 ZBTB24 NM_014797.2(ZBTB24): c.1237C> T (p.Arg413Cys) single nucleotide variant Uncertain significance rs149690823 GRCh37 Chromosome 6, 109796653: 109796653
30 ZBTB24 NM_014797.2(ZBTB24): c.1204+5G> A single nucleotide variant Benign rs80351559 GRCh37 Chromosome 6, 109797373: 109797373
31 ZBTB24 NM_014797.2(ZBTB24): c.1204+5G> A single nucleotide variant Benign rs80351559 GRCh38 Chromosome 6, 109476170: 109476170
32 ZBTB24 NM_014797.2(ZBTB24): c.1154A> G (p.Lys385Arg) single nucleotide variant Uncertain significance rs371071024 GRCh37 Chromosome 6, 109797428: 109797428
33 ZBTB24 NM_014797.2(ZBTB24): c.1154A> G (p.Lys385Arg) single nucleotide variant Uncertain significance rs371071024 GRCh38 Chromosome 6, 109476225: 109476225
34 ZBTB24 NM_014797.2(ZBTB24): c.135T> C (p.Asn45=) single nucleotide variant Likely benign rs374383327 GRCh38 Chromosome 6, 109481892: 109481892
35 ZBTB24 NM_014797.2(ZBTB24): c.135T> C (p.Asn45=) single nucleotide variant Likely benign rs374383327 GRCh37 Chromosome 6, 109803095: 109803095
36 ZBTB24 NM_014797.2(ZBTB24): c.1289-11_1289-6delGTTTTT deletion Likely benign GRCh38 Chromosome 6, 109467740: 109467745
37 ZBTB24 NM_014797.2(ZBTB24): c.1289-11_1289-6delGTTTTT deletion Likely benign GRCh37 Chromosome 6, 109788943: 109788948
38 ZBTB24 NM_014797.2(ZBTB24): c.730G> C (p.Glu244Gln) single nucleotide variant Uncertain significance rs113516976 GRCh38 Chromosome 6, 109481297: 109481297
39 ZBTB24 NM_014797.2(ZBTB24): c.730G> C (p.Glu244Gln) single nucleotide variant Uncertain significance rs113516976 GRCh37 Chromosome 6, 109802500: 109802500
40 ZBTB24 NM_014797.2(ZBTB24): c.1688T> C (p.Ile563Thr) single nucleotide variant Benign rs142830104 GRCh37 Chromosome 6, 109787460: 109787460
41 ZBTB24 NM_014797.2(ZBTB24): c.1688T> C (p.Ile563Thr) single nucleotide variant Benign rs142830104 GRCh38 Chromosome 6, 109466257: 109466257
42 ZBTB24 NM_014797.2(ZBTB24): c.860A> G (p.Lys287Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 109802370: 109802370
43 ZBTB24 NM_014797.2(ZBTB24): c.860A> G (p.Lys287Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 109481167: 109481167
44 ZBTB24 NM_014797.2(ZBTB24): c.235C> T (p.Leu79=) single nucleotide variant Likely benign rs746668886 GRCh37 Chromosome 6, 109802995: 109802995
45 ZBTB24 NM_014797.2(ZBTB24): c.235C> T (p.Leu79=) single nucleotide variant Likely benign rs746668886 GRCh38 Chromosome 6, 109481792: 109481792
46 ZBTB24 NM_014797.2(ZBTB24): c.51C> T (p.Asp17=) single nucleotide variant Likely benign rs376284623 GRCh38 Chromosome 6, 109481976: 109481976
47 ZBTB24 NM_014797.2(ZBTB24): c.51C> T (p.Asp17=) single nucleotide variant Likely benign rs376284623 GRCh37 Chromosome 6, 109803179: 109803179
48 ZBTB24 NM_014797.2(ZBTB24): c.2094A> G (p.Ter698Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 109465851: 109465851
49 ZBTB24 NM_014797.2(ZBTB24): c.2094A> G (p.Ter698Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 109787054: 109787054
50 ZBTB24 NM_014797.2(ZBTB24): c.439G> T (p.Val147Leu) single nucleotide variant Uncertain significance rs766594494 GRCh38 Chromosome 6, 109481588: 109481588

Expression for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Search GEO for disease gene expression data for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2.

Pathways for Immunodeficiency-Centromeric Instability-Facial Anomalies...

GO Terms for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Sources for Immunodeficiency-Centromeric Instability-Facial Anomalies...

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