MCID: SFR001
MIFTS: 22

Sifrim-Hitz-Weiss Syndrome

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Sifrim-Hitz-Weiss Syndrome

MalaCards integrated aliases for Sifrim-Hitz-Weiss Syndrome:

Name: Sifrim-Hitz-Weiss Syndrome 57 75 6 40
Sihiwes 57 75
Sifrim-Hitz-Weiss Multiple Congenital Anomalies-Mental Retardation Syndrome 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
mutations occur de novo


HPO:

32
sifrim-hitz-weiss syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Sifrim-Hitz-Weiss Syndrome

OMIM : 57 Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016). (617159)

MalaCards based summary : Sifrim-Hitz-Weiss Syndrome, is also known as sihiwes. An important gene associated with Sifrim-Hitz-Weiss Syndrome is CHD4 (Chromodomain Helicase DNA Binding Protein 4). Affiliated tissues include bone and heart, and related phenotypes are cryptorchidism and micropenis

UniProtKB/Swiss-Prot : 75 Sifrim-Hitz-Weiss syndrome: An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients.

Related Diseases for Sifrim-Hitz-Weiss Syndrome

Symptoms & Phenotypes for Sifrim-Hitz-Weiss Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears
hearing impairment
cupped ears
abnormally shaped ears

Growth Height:
short stature

Skeletal Skull:
wormian bones
trigonocephaly
basal skull abnormalities

Genitourinary Bladder:
vesicoureteral reflux

Skeletal Pelvis:
flat acetabular roof

Skeletal Limbs:
short femoral neck

Head And Neck Face:
coarse facies

Chest Ribs Sternum Clavicles And Scapulae:
abnormal clavicles

Skeletal:
bony fusion

Skeletal Feet:
fusion of the foot bones

Head And Neck Eyes:
hypertelorism
ptosis
astigmatism
epicanthal folds
short palpebral fissures
more
Neurologic Central Nervous System:
intellectual disability
gait imbalance
enlarged ventricles
chiari malformation
delayed global development

Genitourinary Kidneys:
renal insufficiency

Genitourinary External Genitalia Male:
cryptorchidism
ambiguous genitalia
micropenis

Cardiovascular Heart:
tetralogy of fallot
septal defects
coarctation of the aorta
congenital heart defects

Abdomen Gastrointestinal:
anteriorly placed anus

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
tapered fingers
fusion of the wrist bones

Head And Neck Mouth:
palatal abnormalities

Skeletal Spine:
cervical fusion

Endocrine Features:
hypogonadotropic hypogonadism (in males)


Clinical features from OMIM:

617159

Human phenotypes related to Sifrim-Hitz-Weiss Syndrome:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 micropenis 32 HP:0000054
3 ambiguous genitalia 32 HP:0000062
4 vesicoureteral reflux 32 HP:0000076
5 renal insufficiency 32 HP:0000083
6 trigonocephaly 32 HP:0000243
7 macrocephaly 32 HP:0000256
8 coarse facial features 32 HP:0000280
9 epicanthus 32 HP:0000286
10 hypertelorism 32 HP:0000316
11 hearing impairment 32 HP:0000365
12 low-set ears 32 HP:0000369
13 cupped ear 32 HP:0000378
14 astigmatism 32 HP:0000483
15 ptosis 32 HP:0000508
16 upslanted palpebral fissure 32 HP:0000582
17 short clavicles 32 very rare (1%) HP:0000894
18 tapered finger 32 HP:0001182
19 intellectual disability 32 HP:0001249
20 generalized hypotonia 32 HP:0001290
21 anteriorly placed anus 32 HP:0001545
22 ventricular septal defect 32 very rare (1%) HP:0001629
23 atrial septal defect 32 very rare (1%) HP:0001631
24 tetralogy of fallot 32 HP:0001636
25 coarctation of aorta 32 very rare (1%) HP:0001680
26 ventriculomegaly 32 HP:0002119
27 gait imbalance 32 HP:0002141
28 arnold-chiari malformation 32 HP:0002308
29 wormian bones 32 HP:0002645
30 flat acetabular roof 32 HP:0003180
31 short stature 32 HP:0004322
32 short palpebral fissure 32 HP:0012745
33 short femoral neck 32 HP:0100864

Drugs & Therapeutics for Sifrim-Hitz-Weiss Syndrome

Search Clinical Trials , NIH Clinical Center for Sifrim-Hitz-Weiss Syndrome

Genetic Tests for Sifrim-Hitz-Weiss Syndrome

Anatomical Context for Sifrim-Hitz-Weiss Syndrome

MalaCards organs/tissues related to Sifrim-Hitz-Weiss Syndrome:

41
Bone, Heart

Publications for Sifrim-Hitz-Weiss Syndrome

Variations for Sifrim-Hitz-Weiss Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Sifrim-Hitz-Weiss Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 CHD4 p.Ser851Tyr VAR_077146 rs886039916
2 CHD4 p.Gly1003Asp VAR_077147
3 CHD4 p.Arg1068His VAR_077148 rs886039915
4 CHD4 p.Arg1127Gln VAR_077149 rs886039917
5 CHD4 p.Trp1148Leu VAR_077150 rs886039919
6 CHD4 p.Arg1173Leu VAR_077151 rs886039918

ClinVar genetic disease variations for Sifrim-Hitz-Weiss Syndrome:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD4 NM_001273.3(CHD4): c.4822G> A (p.Val1608Ile) single nucleotide variant Pathogenic rs201992075 GRCh37 Chromosome 12, 6690297: 6690297
2 CHD4 NM_001273.3(CHD4): c.4822G> A (p.Val1608Ile) single nucleotide variant Pathogenic rs201992075 GRCh38 Chromosome 12, 6581131: 6581131
3 CHD4 NM_001273.3(CHD4): c.3203G> A (p.Arg1068His) single nucleotide variant Pathogenic rs886039915 GRCh37 Chromosome 12, 6700879: 6700879
4 CHD4 NM_001273.3(CHD4): c.3203G> A (p.Arg1068His) single nucleotide variant Pathogenic rs886039915 GRCh38 Chromosome 12, 6591713: 6591713
5 CHD4 NM_001273.3(CHD4): c.2552C> A (p.Ser851Tyr) single nucleotide variant Pathogenic rs886039916 GRCh38 Chromosome 12, 6593191: 6593191
6 CHD4 NM_001273.3(CHD4): c.2552C> A (p.Ser851Tyr) single nucleotide variant Pathogenic rs886039916 GRCh37 Chromosome 12, 6702357: 6702357
7 CHD4 NM_001273.3(CHD4): c.3380G> A (p.Arg1127Gln) single nucleotide variant Pathogenic rs886039917 GRCh38 Chromosome 12, 6588383: 6588383
8 CHD4 NM_001273.3(CHD4): c.3380G> A (p.Arg1127Gln) single nucleotide variant Pathogenic rs886039917 GRCh37 Chromosome 12, 6697549: 6697549
9 CHD4 NM_001273.3(CHD4): c.3518G> T (p.Arg1173Leu) single nucleotide variant Pathogenic rs886039918 GRCh37 Chromosome 12, 6697063: 6697063
10 CHD4 NM_001273.3(CHD4): c.3518G> T (p.Arg1173Leu) single nucleotide variant Pathogenic rs886039918 GRCh38 Chromosome 12, 6587897: 6587897
11 CHD4 NM_001273.3(CHD4): c.3443G> T (p.Trp1148Leu) single nucleotide variant Pathogenic rs886039919 GRCh38 Chromosome 12, 6588320: 6588320
12 CHD4 NM_001273.3(CHD4): c.3443G> T (p.Trp1148Leu) single nucleotide variant Pathogenic rs886039919 GRCh37 Chromosome 12, 6697486: 6697486
13 CHD4 NM_001273.3(CHD4): c.3745T> G (p.Tyr1249Asp) single nucleotide variant Likely pathogenic rs1060499583 GRCh38 Chromosome 12, 6587518: 6587518
14 CHD4 NM_001273.3(CHD4): c.3745T> G (p.Tyr1249Asp) single nucleotide variant Likely pathogenic rs1060499583 GRCh37 Chromosome 12, 6696684: 6696684

Expression for Sifrim-Hitz-Weiss Syndrome

Search GEO for disease gene expression data for Sifrim-Hitz-Weiss Syndrome.

Pathways for Sifrim-Hitz-Weiss Syndrome

GO Terms for Sifrim-Hitz-Weiss Syndrome

Sources for Sifrim-Hitz-Weiss Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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