HSS
MCID: HLL001
MIFTS: 53

Hallermann-Streiff Syndrome (HSS) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hallermann-Streiff Syndrome

Aliases & Descriptions for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 54 12 50 24 56 66 13 14
Francois Dyscephalic Syndrome 12 50 24 66
Hallermann's Syndrome 12 42 69
Hallermann Streiff Syndrome 50 29
Hss 50 66
Hallermann Streiff Francois Syndrome 50
François Dyscephalic Syndrome 56
Oculomandibulofacial Syndrome 56
Hallerman - Streiff Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
hallermann-streiff syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

HPO:

32
hallermann-streiff syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 234100
Disease Ontology 12 DOID:4534
MeSH 42 D006210
NCIt 47 C84746
SNOMED-CT 64 205417000 7903009
Orphanet 56 ORPHA2108
UMLS via Orphanet 70 C0018522
ICD10 via Orphanet 34 Q87.0
MedGen 40 C0018522
UMLS 69 C0018522

Summaries for Hallermann-Streiff Syndrome

NIH Rare Diseases : 50 hallermann-streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. intellectual disability is present in some individuals. almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. treatment is symptomatic and supportive. last updated: 7/23/2012

MalaCards based summary : Hallermann-Streiff Syndrome, also known as francois dyscephalic syndrome, is related to neurodegeneration with brain iron accumulation 1 and neurodegeneration with brain iron accumulation, and has symptoms including malar flattening, frontal bossing and nystagmus. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Gap junction trafficking and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, bone and eye, and related phenotypes are cellular and growth/size/body region

UniProtKB/Swiss-Prot : 66 Hallermann-Streiff syndrome: A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.

OMIM : 54 Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing),... (234100) more...

Disease Ontology : 12 A syndrome that affects growth, cranial development, hair growth and dental development.

Related Diseases for Hallermann-Streiff Syndrome

Graphical network of the top 20 diseases related to Hallermann-Streiff Syndrome:



Diseases related to Hallermann-Streiff Syndrome

Symptoms & Phenotypes for Hallermann-Streiff Syndrome

Symptoms by clinical synopsis from OMIM:

234100

Clinical features from OMIM:

234100

Human phenotypes related to Hallermann-Streiff Syndrome:

56 32 (show top 50) (show all 92)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 56 32 Frequent (79-30%) HP:0000272
2 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
3 nystagmus 56 32 Occasional (29-5%) HP:0000639
4 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
5 intellectual disability 56 32 Occasional (29-5%) HP:0001249
6 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
7 microcephaly 56 32 Occasional (29-5%) HP:0000252
8 visual impairment 56 32 Frequent (79-30%) HP:0000505
9 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
10 glossoptosis 56 32 Frequent (79-30%) HP:0000162
11 micrognathia 56 32 Frequent (79-30%) HP:0000347
12 strabismus 56 32 Occasional (29-5%) HP:0000486
13 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
14 short foot 56 32 Occasional (29-5%) HP:0001773
15 reduced bone mineral density 56 32 Very frequent (99-80%) HP:0004349
16 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
17 high, narrow palate 56 32 Frequent (79-30%) HP:0002705
18 underdeveloped nasal alae 56 32 Frequent (79-30%) HP:0000430
19 telecanthus 56 32 Frequent (79-30%) HP:0000506
20 myopia 56 32 Occasional (29-5%) HP:0000545
21 cerebellar hypoplasia 56 32 Occasional (29-5%) HP:0001321
22 microphthalmia 56 32 Very frequent (99-80%) HP:0000568
23 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
24 small hand 56 32 Occasional (29-5%) HP:0200055
25 glaucoma 56 32 Occasional (29-5%) HP:0000501
26 increased number of teeth 56 32 Frequent (79-30%) HP:0011069
27 narrow mouth 56 32 Frequent (79-30%) HP:0000160
28 abnormality of the fontanelles or cranial sutures 56 32 Frequent (79-30%) HP:0000235
29 hypotrichosis 56 32 Very frequent (99-80%) HP:0001006
30 choanal atresia 56 32 Occasional (29-5%) HP:0000453
31 recurrent fractures 56 32 Frequent (79-30%) HP:0002757
32 alopecia 56 32 Very frequent (99-80%) HP:0001596
33 convex nasal ridge 56 32 Very frequent (99-80%) HP:0000444
34 sparse body hair 56 32 Very frequent (99-80%) HP:0002231
35 tracheomalacia 56 32 Occasional (29-5%) HP:0002779
36 uveitis 56 32 Occasional (29-5%) HP:0000554
37 sparse eyelashes 56 32 Frequent (79-30%) HP:0000653
38 abdominal situs inversus 56 32 Occasional (29-5%) HP:0003363
39 congenital cataract 56 32 Very frequent (99-80%) HP:0000519
40 natal tooth 56 32 Frequent (79-30%) HP:0000695
41 abnormality of hair texture 56 32 Frequent (79-30%) HP:0010719
42 dermal atrophy 56 32 Very frequent (99-80%) HP:0004334
43 short ribs 56 32 Very frequent (99-80%) HP:0000773
44 rib exostoses 56 32 Very frequent (99-80%) HP:0000896
45 proportionate short stature 56 32 Very frequent (99-80%) HP:0003508
46 dry skin 32 HP:0000958
47 low-set ears 32 HP:0000369
48 pectus excavatum 32 HP:0000767
49 scoliosis 32 HP:0002650
50 hyperlordosis 32 HP:0003307

MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

44 (show all 21)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 BCS1L ERBB4 GJA1 GJB1 GJC2 ICMT
2 growth/size/body region MP:0005378 10.36 BCOR BCS1L GJA1 GJB1 ICMT IGF1
3 mortality/aging MP:0010768 10.36 BCOR BCS1L ERBB4 GJA1 GJB1 GJC2
4 behavior/neurological MP:0005386 10.34 BCS1L ERBB4 GJA1 GJB1 GJC2 IGF2
5 hematopoietic system MP:0005397 10.31 ERBB4 GJA1 GJB1 GJC2 ICMT IGF1
6 immune system MP:0005387 10.3 NOTCH1 OPTN PTCH1 WNT5A ZMPSTE24 ERBB4
7 cardiovascular system MP:0005385 10.29 PTCH1 WNT5A BCOR ERBB4 GJA1 IGF1
8 endocrine/exocrine gland MP:0005379 10.26 GJA1 IGF1 IGF2 BCS1L ERBB4 LMNA
9 nervous system MP:0003631 10.25 LMNA MID1 NOTCH1 PTCH1 WNT5A ZMPSTE24
10 embryo MP:0005380 10.22 MID1 NOTCH1 PTCH1 WNT5A BCOR ERBB4
11 craniofacial MP:0005382 10.18 ERBB4 GJA1 IGF2 LMNA NOTCH1 PTCH1
12 integument MP:0010771 10.16 ERBB4 GJA1 ICMT IGF1 IGF2 LMNA
13 muscle MP:0005369 10.09 ERBB4 GJA1 IGF1 IGF2 LMNA MID1
14 liver/biliary system MP:0005370 10.08 BCS1L GJB1 ICMT IGF2 LMNA NOTCH1
15 normal MP:0002873 10.07 GJA1 GJC2 ICMT ERBB4 IGF1 LMNA
16 limbs/digits/tail MP:0005371 10.04 GJA1 IGF1 IGF2 LMNA PTCH1 WNT5A
17 renal/urinary system MP:0005367 9.92 BCS1L IGF1 IGF2 LMNA NOTCH1 PTCH1
18 reproductive system MP:0005389 9.86 BCS1L ERBB4 GJA1 IGF1 IGF2 LMNA
19 respiratory system MP:0005388 9.76 ERBB4 GJA1 IGF1 IGF2 LMNA NOTCH1
20 skeleton MP:0005390 9.56 GJA1 IGF1 IGF2 LMNA NOTCH1 PTCH1
21 vision/eye MP:0005391 9.23 PTCH1 GJA1 GJB1 GJC2 IGF2 LMNA

Drugs & Therapeutics for Hallermann-Streiff Syndrome

Search Clinical Trials , NIH Clinical Center for Hallermann-Streiff Syndrome

Cochrane evidence based reviews: hallermann's syndrome

Genetic Tests for Hallermann-Streiff Syndrome

Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome 29 24

Anatomical Context for Hallermann-Streiff Syndrome

MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

39
Skin, Bone, Eye, Heart, Tongue, Brain, Cerebellum

Publications for Hallermann-Streiff Syndrome

Articles related to Hallermann-Streiff Syndrome:

(show top 50) (show all 97)
id Title Authors Year
1
EXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME. ( 27648586 )
2016
2
Brown-McLean Syndrome in a Patient with Hallermann-Streiff Syndrome. ( 26865807 )
2016
3
Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. ( 25966733 )
2015
4
Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. ( 26194770 )
2015
5
Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: clinical aspects, cone beam computed tomography findings, and conservative clinical approach. ( 25047934 )
2014
6
Hallermann-Streiff syndrome with cutaneous manifestations. ( 24168356 )
2013
7
Hallermann-streiff syndrome. ( 24082185 )
2013
8
Hallermann-Streiff syndrome without cataract: case report from Kosova. ( 24601178 )
2013
9
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. ( 22486910 )
2012
10
Bilateral posterior semicircular canal dehiscence in the setting of Hallermann-Streiff syndrome. ( 22996707 )
2012
11
Orodental findings in Hallermann-Streiff syndrome. ( 22842271 )
2012
12
Surgical correction of Hallermann-Streiff syndrome: a case report of esotropia, entropion, and blepharoptosis. ( 21461230 )
2011
13
Hallermann-Streiff syndrome: case report and literature review. ( 21516279 )
2011
14
Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. ( 22393346 )
2011
15
Hallermann-Streiff syndrome: a case report from Georgia. ( 21617280 )
2011
16
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. ( 21821160 )
2011
17
Reproductive success in patients with Hallermann-Streiff syndrome. ( 21815247 )
2011
18
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. ( 22570643 )
2011
19
Retinal detachments involving the posterior pole in hallermann-streiff syndrome. ( 25389686 )
2011
20
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? ( 21792277 )
2011
21
Hallermann-Streiff syndrome with hemihypertrophy. ( 20964125 )
2010
22
Hallermann-Streiff syndrome: a case report. ( 21163145 )
2010
23
Hallermann-Streiff Syndrome: a case report from Turkey. ( 19218897 )
2009
24
Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome. ( 19247763 )
2009
25
Craniodentofacial manifestations in Hallermann-Streiff syndrome. ( 19241797 )
2009
26
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. ( 18193263 )
2008
27
Corneal opacities in the Hallermann-Streiff syndrome. ( 18484310 )
2008
28
Macular retinal detachment in Hallermann-Streiff syndrome. ( 18268225 )
2008
29
Hallermann-Streiff syndrome: those are not supernumerary teeth. ( 16615982 )
2006
30
Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum. ( 16225817 )
2005
31
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. ( 15581837 )
2004
32
Hallermann-Streiff syndrome: a case review. ( 15347328 )
2004
33
An atypical Hallermann-Streiff syndrome. Focus on dental care and differential diagnosis. ( 14765641 )
2004
34
Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. ( 12892173 )
2003
35
Case report: orofacial characteristics of Hallermann-Streiff Syndrome. ( 14529338 )
2003
36
Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. ( 10388418 )
1999
37
Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. ( 10573253 )
1999
38
Commentary on Hallermann-Streiff Syndrome: experience with 15 patients and review of the literature. ( 10576803 )
1999
39
Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome. ( 9301367 )
1997
40
Hallermann--Streiff syndrome. ( 9586407 )
1997
41
Atrial septal defect in Hallermann Streiff syndrome. ( 9219014 )
1997
42
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. ( 8585575 )
1995
43
A typical Hallermann-Streiff syndrome in a 3 year old child. ( 8634201 )
1995
44
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. ( 7864053 )
1994
45
Hallermann-Streiff syndrome: airway problems during anaesthesia. ( 9136243 )
1994
46
Hallermann-Streiff syndrome in one of dizygotic twins. ( 8116678 )
1994
47
Hallermann-Streiff syndrome with Coats disease. ( 8014786 )
1994
48
MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication. ( 8275573 )
1993
49
Hallermann-Streiff syndrome. ( 8262609 )
1993
50
Hallermann-Streiff syndrome. ( 1428149 )
1992

Variations for Hallermann-Streiff Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hallermann-Streiff Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 GJA1 p.Arg76His VAR_058997 rs267606844

Expression for Hallermann-Streiff Syndrome

Search GEO for disease gene expression data for Hallermann-Streiff Syndrome.

Pathways for Hallermann-Streiff Syndrome

GO Terms for Hallermann-Streiff Syndrome

Cellular components related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 9.13 GJA1 GJB1 GJC2
2 connexin complex GO:0005922 8.8 GJA1 GJB1 GJC2

Biological processes related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 ERBB4 IGF1 NOTCH1 PTCH1 WNT5A
2 positive regulation of cell proliferation GO:0008284 9.89 ERBB4 IGF1 IGF2 NOTCH1 WNT5A
3 heart development GO:0007507 9.78 BCOR ERBB4 GJA1 NOTCH1
4 axonogenesis GO:0007409 9.75 NOTCH1 OMD WNT5A
5 negative regulation of cell proliferation GO:0008285 9.72 ERBB4 GJA1 LMNA NOTCH1 PTCH1
6 regulation of cell migration GO:0030334 9.63 ERBB4 LMNA NOTCH1
7 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.56 ERBB4 IGF1
8 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.55 IGF1 LMNA
9 somite development GO:0061053 9.54 PTCH1 WNT5A
10 positive regulation of epithelial cell proliferation GO:0050679 9.54 IGF1 NOTCH1 WNT5A
11 positive regulation of glycogen biosynthetic process GO:0045725 9.52 IGF1 IGF2
12 mammary gland epithelial cell differentiation GO:0060644 9.51 ERBB4 PTCH1
13 pericardium morphogenesis GO:0003344 9.43 NOTCH1 WNT5A
14 cell fate commitment GO:0045165 9.43 ERBB4 NOTCH1 WNT5A
15 gap junction assembly GO:0016264 9.4 GJA1 GJB1
16 embryonic limb morphogenesis GO:0030326 9.33 NOTCH1 PTCH1 WNT5A
17 negative regulation of mesenchymal cell proliferation GO:0072201 8.96 LMNA WNT5A
18 cell communication GO:0007154 8.8 GJA1 GJB1 GJC2

Molecular functions related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor receptor binding GO:0005159 8.96 IGF1 IGF2
2 gap junction channel activity GO:0005243 8.8 GJA1 GJB1 GJC2

Sources for Hallermann-Streiff Syndrome

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10 dbSNP
11 DGIdb
16 ExPASy
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34 ICD10 via Orphanet
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