MCID: HLZ001
MIFTS: 38

Holzgreve Syndrome

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Holzgreve Syndrome

MalaCards integrated aliases for Holzgreve Syndrome:

Name: Holzgreve Syndrome 56 12 52 58
Holzgreve-Wagner-Rehder Syndrome 12 58 15
Holzgreve Wagner Rehder Syndrome 12 43 71
Cleft Palate-Potter Sequence-Congenital Heart Anomalies-Mesoaxial Polydactyly-Multiple Malformations Syndrome 58
Complex Congenital Heart Defect, Renal Agenesis and Cleft Lip and Palate 52

Characteristics:

Orphanet epidemiological data:

58
holzgreve syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
holzgreve syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060566
OMIM 56 236110
MeSH 43 C535327
SNOMED-CT 67 783159001
MESH via Orphanet 44 C535327
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1856095
Orphanet 58 ORPHA2167
MedGen 41 C1856095
UMLS 71 C1856095

Summaries for Holzgreve Syndrome

Disease Ontology : 12 A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.

MalaCards based summary : Holzgreve Syndrome, also known as holzgreve-wagner-rehder syndrome, is related to cleft palate, isolated and polydactyly. An important gene associated with Holzgreve Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Pathways in cancer and Interleukin-4 and 13 signaling. Affiliated tissues include heart, tongue and bone, and related phenotypes are cleft palate and intrauterine growth retardation

More information from OMIM: 236110

Related Diseases for Holzgreve Syndrome

Graphical network of the top 20 diseases related to Holzgreve Syndrome:



Diseases related to Holzgreve Syndrome

Symptoms & Phenotypes for Holzgreve Syndrome

Human phenotypes related to Holzgreve Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 renal hypoplasia/aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008678
4 hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001161
5 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
6 oligohydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001562
7 abnormality of cardiovascular system morphology 31 hallmark (90%) HP:0030680
8 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
9 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
10 abnormality of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0002997
11 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
12 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
13 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
14 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
15 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
16 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
17 aplasia/hypoplasia of the tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010295
18 single umbilical artery 58 31 frequent (33%) Frequent (79-30%) HP:0001195
19 abnormality of mesentery morphology 58 31 frequent (33%) Frequent (79-30%) HP:0100016
20 bifid tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010297
21 abnormally ossified vertebrae 31 frequent (33%) HP:0100569
22 malformation of the heart and great vessels 58 Very frequent (99-80%)
23 hypoplastic left heart 31 HP:0004383
24 cleft upper lip 31 HP:0000204
25 renal hypoplasia 31 HP:0000089
26 abnormal vertebral ossification 58 Frequent (79-30%)
27 renal agenesis 31 HP:0000104

Symptoms via clinical synopsis from OMIM:

56
Mouth:
cleft palate
cleft lip/palate

Limbs:
polydactyly

Facies:
potter sequence

G U:
renal hypoplasia
renal agenesis

Cardiac:
congenital heart defect
complex congenital heart defect
hypoplastic left heart sequence

Skel:
skeletal defects

Clinical features from OMIM:

236110

MGI Mouse Phenotypes related to Holzgreve Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.8 CTNNB1 FN1 FRZB GLI3 SOX2
2 craniofacial MP:0005382 9.76 CTNNB1 FN1 GLI3 SOX2
3 embryo MP:0005380 9.73 CTNNB1 FN1 GLI3 SOX2
4 nervous system MP:0003631 9.72 CTNNB1 FN1 FRZB GLI3 SOX2
5 limbs/digits/tail MP:0005371 9.67 CTNNB1 FN1 FRZB GLI3
6 normal MP:0002873 9.65 CTNNB1 FN1 FRZB GLI3 SOX2
7 skeleton MP:0005390 9.35 CTNNB1 FN1 FRZB GLI3 SOX2
8 pigmentation MP:0001186 9.33 CTNNB1 GLI3 SOX2
9 taste/olfaction MP:0005394 8.8 CTNNB1 GLI3 SOX2

Drugs & Therapeutics for Holzgreve Syndrome

Search Clinical Trials , NIH Clinical Center for Holzgreve Syndrome

Cochrane evidence based reviews: holzgreve wagner rehder syndrome

Genetic Tests for Holzgreve Syndrome

Anatomical Context for Holzgreve Syndrome

MalaCards organs/tissues related to Holzgreve Syndrome:

40
Heart, Tongue, Bone, Lung

Publications for Holzgreve Syndrome

Articles related to Holzgreve Syndrome:

# Title Authors PMID Year
1
Holzgreve syndrome: recurrence in sibs. 56 61
8456859 1993
2
Holzgreve-Wagner-Rehder syndrome: Potter sequence associated with persistent buccopharyngeal membrane. A second observation. 61 56
3232694 1988
3
Thomas syndrome: potter sequence with cleft lip/palate and cardiac anomalies. 56
8882777 1996
4
[Renal hypoplasia, polydactyly, cardiopathy: a new syndrome?]. 56
3309184 1987
5
Bilateral renal agenesis with Potter phenotype, cleft palate, anomalies of the cardiovascular system, skeletal anomalies including hexadactyly and bifid metacarpal. A new syndrome? 56
6741992 1984
6
The most common genetic syndromes and associated anomalies in Latvian patients with cleft lip with or without palate. 61
16861851 2006
7
Non-cardiac malformations in individuals with outflow tract defects of the heart: the Baltimore-Washington Infant Study (1981-1989). 61
8849016 1995

Variations for Holzgreve Syndrome

Expression for Holzgreve Syndrome

Search GEO for disease gene expression data for Holzgreve Syndrome.

Pathways for Holzgreve Syndrome

GO Terms for Holzgreve Syndrome

Cellular components related to Holzgreve Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear transcription factor complex GO:0044798 8.62 SOX2 CTNNB1

Biological processes related to Holzgreve Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.8 SOX2 GLI3 CTNNB1
2 negative regulation of cell proliferation GO:0008285 9.73 GLI3 FRZB CTNNB1
3 positive regulation of MAPK cascade GO:0043410 9.63 SOX2 CTNNB1
4 kidney development GO:0001822 9.63 GLI3 CTNNB1
5 cell-matrix adhesion GO:0007160 9.62 FN1 CTNNB1
6 lung development GO:0030324 9.61 GLI3 CTNNB1
7 wound healing GO:0042060 9.61 GLI3 FN1
8 regulation of gene expression GO:0010468 9.61 SOX2 GLI3 CTNNB1
9 response to wounding GO:0009611 9.6 SOX2 FN1
10 canonical Wnt signaling pathway GO:0060070 9.59 FRZB CTNNB1
11 negative regulation of neuron differentiation GO:0045665 9.58 SOX2 GLI3
12 positive regulation of osteoblast differentiation GO:0045669 9.58 GLI3 CTNNB1
13 negative regulation of cell differentiation GO:0045596 9.57 GLI3 CTNNB1
14 embryonic digit morphogenesis GO:0042733 9.55 GLI3 CTNNB1
15 odontogenesis of dentin-containing tooth GO:0042475 9.54 GLI3 CTNNB1
16 inner ear development GO:0048839 9.52 SOX2 GLI3
17 regulation of cell differentiation GO:0045595 9.51 GLI3 CTNNB1
18 heart development GO:0007507 9.5 GLI3 FN1 CTNNB1
19 limb development GO:0060173 9.49 GLI3 CTNNB1
20 dorsal/ventral pattern formation GO:0009953 9.48 GLI3 CTNNB1
21 branching involved in ureteric bud morphogenesis GO:0001658 9.46 GLI3 CTNNB1
22 T cell differentiation in thymus GO:0033077 9.4 GLI3 CTNNB1
23 proximal/distal pattern formation GO:0009954 9.37 GLI3 CTNNB1
24 negative regulation of canonical Wnt signaling pathway GO:0090090 9.33 SOX2 GLI3 FRZB
25 positive regulation of neuroblast proliferation GO:0002052 9.26 GLI3 CTNNB1
26 layer formation in cerebral cortex GO:0021819 8.96 GLI3 CTNNB1
27 forebrain development GO:0030900 8.8 SOX2 GLI3 CTNNB1

Molecular functions related to Holzgreve Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 8.96 GLI3 CTNNB1
2 disordered domain specific binding GO:0097718 8.62 FN1 CTNNB1

Sources for Holzgreve 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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