HSS
MCID: HLL001
MIFTS: 55

Hallermann-Streiff Syndrome (HSS)

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

Aliases & Classifications for Hallermann-Streiff Syndrome

MalaCards integrated aliases for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 58 12 77 54 60 76 30 13 15 41
Francois Dyscephalic Syndrome 58 12 77 54 76
Hallermann's Syndrome 12 45 74
Hss 58 54 76
François Dyscephalic Syndrome 54 60
Oculomandibulofacial Syndrome 54 60
Hallermann Streiff Francois Syndrome 54
Hallerman - Streiff Syndrome 12
Hallermann Streiff Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
hallermann-streiff syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
all cases have been sporadic


HPO:

33
hallermann-streiff syndrome:
Inheritance sporadic


Classifications:



Summaries for Hallermann-Streiff Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Hallermann-Streiff Syndrome, also known as francois dyscephalic syndrome, is related to oculodentodigital dysplasia and neurodegeneration with brain iron accumulation 1. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Adipogenesis. Affiliated tissues include skin, bone and heart, and related phenotypes are frontal bossing and brachycephaly

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

OMIM : 58 Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990). (234100)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair... more...

Related Diseases for Hallermann-Streiff Syndrome

Diseases in the Hallermann-Streiff Syndrome family:

Hallermann-Streiff-Like Syndrome

Diseases related to Hallermann-Streiff Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 oculodentodigital dysplasia 30.7 GJA1 GJC2
2 neurodegeneration with brain iron accumulation 1 11.1
3 cataract 10.7
4 retinal detachment 10.5
5 hypotrichosis 10.4
6 fundus dystrophy 10.4
7 aniridia 1 10.3
8 hutchinson-gilford progeria syndrome 10.3
9 teeth, supernumerary 10.3
10 hemihyperplasia, isolated 10.3
11 coats disease 10.3
12 bone fracture 10.3
13 sleep apnea 10.3
14 sclerocornea 10.3
15 ptosis 10.3
16 tracheomalacia 10.3
17 monocular esotropia 10.3
18 microphthalmia 10.3
19 enophthalmos 10.3
20 entropion 10.3
21 atrial heart septal defect 10.3
22 hypopituitarism 10.3
23 esotropia 10.3
24 regional odontodysplasia 10.3
25 hypomyelinating leukoencephalopathy 10.3 GJA1 GJC2
26 oculodentodigital dysplasia, autosomal recessive 10.2
27 hypoparathyroidism 10.2
28 charcot-marie-tooth disease, x-linked dominant, 1 10.2 GJB1 GJC2
29 mandibuloacral dysplasia with type a lipodystrophy 10.2 LMNA ZMPSTE24
30 restrictive dermopathy, lethal 10.2 LMNA ZMPSTE24
31 dysphagia 10.2
32 complete generalized lipodystrophy 10.2 LMNA ZMPSTE24
33 acroosteolysis 10.2 LMNA ZMPSTE24
34 ovarian cystadenoma 10.2 LMNA ZMPSTE24
35 reynolds syndrome 10.2 LMNA ZMPSTE24
36 lipodystrophy, congenital generalized, type 1 10.2 LMNA ZMPSTE24
37 erythrokeratodermia variabilis et progressiva 1 10.2 GJA1 GJB1
38 skin atrophy 10.1 GJA1 LMNA
39 congenital generalized lipodystrophy 10.1 LMNA ZMPSTE24
40 pelizaeus-merzbacher-like disease 10.1 GJA1 GJB1 GJC2
41 dna, satellite, iii 10.0
42 infantile liver failure syndrome 1 10.0
43 acute liver failure 10.0
44 hemangioma 10.0
45 dengue shock syndrome 10.0
46 capillary hemangioma 10.0
47 leukodystrophy, hypomyelinating, 2 10.0 GJB1 GJC2
48 hypoplastic right heart syndrome 10.0 ERBB4 NOTCH1
49 tricuspid valve stenosis 10.0 GJA1 NOTCH1
50 acquired generalized lipodystrophy 10.0 LMNA ZMPSTE24

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



Diseases related to Hallermann-Streiff Syndrome

Symptoms & Phenotypes for Hallermann-Streiff Syndrome

Human phenotypes related to Hallermann-Streiff Syndrome:

60 33 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
3 reduced bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004349
4 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
5 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
6 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
7 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
8 sparse body hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002231
9 dermal atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0004334
10 short ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000773
11 rib exostoses 60 33 hallmark (90%) Very frequent (99-80%) HP:0000896
12 proportionate short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003508
13 developmental cataract 33 hallmark (90%) HP:0000519
14 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
15 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
16 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162
17 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
18 high, narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0002705
19 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
20 telecanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000506
21 increased number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0011069
22 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
23 abnormality of the fontanelles or cranial sutures 60 33 frequent (33%) Frequent (79-30%) HP:0000235
24 recurrent fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002757
25 sparse eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000653
26 natal tooth 60 33 frequent (33%) Frequent (79-30%) HP:0000695
27 abnormality of hair texture 60 33 frequent (33%) Frequent (79-30%) HP:0010719
28 sparse and thin eyebrow 33 frequent (33%) HP:0000535
29 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
30 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
31 intellectual disability 60 33 very rare (1%) Occasional (29-5%) HP:0001249
32 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
33 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
34 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
35 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
36 short foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001773
37 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
38 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
39 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
40 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
41 small hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0200055
42 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
43 choanal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000453
44 tracheomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002779
45 uveitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000554
46 abdominal situs inversus 60 33 occasional (7.5%) Occasional (29-5%) HP:0003363
47 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
48 low-set ears 33 HP:0000369
49 pectus excavatum 33 HP:0000767
50 high palate 33 HP:0000218

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Head And Neck Eyes:
nystagmus
strabismus
microphthalmia
iris coloboma
blue sclerae
more
Head And Neck Mouth:
narrow palate
high-arched palate
microstomia
thin lips
everted lower lip

Skeletal Skull:
wormian bones
thin calvarium
delayed ossification of sutures
shallow sella turcica
absence of mandibular condyles

Neurologic Central Nervous System:
generalized tonic-clonic seizures
choreoathetosis
hyperactivity
mental retardation (15%)

Respiratory Nasopharynx:
obstructive sleep apnea

Head And Neck Teeth:
selective tooth agenesis
malocclusion
supernumerary teeth
neonatal teeth
persistence of neonatal teeth

Respiratory Lung:
pulmonary hypertension
pulmonary infections

Skin Nails Hair Skin:
telangiectases
skin atrophy (over nose and scalp sutural areas)
xerosis

Head And Neck Nose:
thin, small pointed nose
nasal cartilage hypoplasia

Skeletal Hands:
thin, gracile metacarpals

Head And Neck Face:
frontal bossing
micrognathia
malar hypoplasia

Skeletal Spine:
scoliosis
spina bifida
lordosis
winging of scapula

Head And Neck Head:
microcephaly
brachycephaly
platybasia
parietal bossing
scaphocephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
decreased number of sternal ossification centers

Respiratory Airways:
tracheomalacia

Skeletal Limbs:
metaphyseal widening
hyperextensible joints
thin, gracile long bones

Growth Weight:
low birth weight

Growth Height:
proportionate small stature
average male height 155-157 cm
average female height 152 cm

Chest External Features:
funnel chest

Skin Nails Hair Hair:
thin, light hair
hypotrichosis (especially scalp, eyebrows, and eyelashes)

Clinical features from OMIM:

234100

GenomeRNAi Phenotypes related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-3 8.8 ERBB4 GJA1 GJB1

MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 BCS1L ERBB4 GJA1 GJB1 GJC2 ICMT
2 behavior/neurological MP:0005386 10.15 BCS1L ERBB4 GJA1 GJB1 GJC2 LMNA
3 hematopoietic system MP:0005397 10.13 ERBB4 GJA1 GJB1 GJC2 ICMT IGF1
4 growth/size/body region MP:0005378 10.1 BCS1L GJA1 GJB1 ICMT IGF1 LMNA
5 mortality/aging MP:0010768 10.07 BCS1L ERBB4 GJA1 GJB1 GJC2 ICMT
6 immune system MP:0005387 10.06 ERBB4 GJA1 GJB1 GJC2 IGF1 LMNA
7 endocrine/exocrine gland MP:0005379 10.05 BCS1L ERBB4 GJA1 IGF1 LMNA NOTCH1
8 integument MP:0010771 9.98 ERBB4 GJA1 ICMT IGF1 LMNA NOTCH1
9 craniofacial MP:0005382 9.92 ERBB4 GJA1 LMNA NOTCH1 ZMPSTE24
10 nervous system MP:0003631 9.91 ERBB4 GJA1 GJB1 GJC2 ICMT IGF1
11 liver/biliary system MP:0005370 9.88 BCS1L GJB1 ICMT LMNA NOTCH1 ZMPSTE24
12 muscle MP:0005369 9.8 ERBB4 GJA1 IGF1 LMNA NOTCH1 ZMPSTE24
13 normal MP:0002873 9.7 ERBB4 GJA1 GJC2 ICMT IGF1 LMNA
14 renal/urinary system MP:0005367 9.35 BCS1L IGF1 LMNA NOTCH1 ZMPSTE24
15 respiratory system MP:0005388 9.02 ERBB4 GJA1 IGF1 LMNA NOTCH1

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:

# Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome 30

Anatomical Context for Hallermann-Streiff Syndrome

MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

42
Skin, Bone, Heart, Eye, Brain, Liver, Tongue

Publications for Hallermann-Streiff Syndrome

Articles related to Hallermann-Streiff Syndrome:

(show top 50) (show all 107)
# Title Authors Year
1
Diagnosis and Innovative Multidisciplinary Management of Hallermann-Streiff Syndrome: 20-Year Follow-Up of a Patient. ( 29578805 )
2018
2
Hallermann Streiff syndrome: 'Bird faced' but not 'bird brained'. ( 29692493 )
2018
3
Hallermann-Streiff Syndrome: Difficulty in airway increases with increasing age. ( 29929164 )
2018
4
Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome. ( 30580479 )
2018
5
EXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME. ( 27648586 )
2018
6
Hallermann-Streiff syndrome with bilateral microphthalmia, pupillary membranes and cataract absorption. ( 28730099 )
2017
7
Brown-McLean Syndrome in a Patient with Hallermann-Streiff Syndrome. ( 26865807 )
2016
8
Hallermann-Streiff syndrome with cutaneous manifestations. ( 24168356 )
2015
9
Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. ( 25966733 )
2015
10
Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. ( 26194770 )
2015
11
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
12
Hallermann-streiff syndrome. ( 24082185 )
2013
13
Hallermann-Streiff syndrome without cataract: case report from Kosova. ( 24601178 )
2013
14
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. ( 22486910 )
2012
15
Orodental findings in Hallermann-Streiff syndrome. ( 22842271 )
2012
16
Bilateral posterior semicircular canal dehiscence in the setting of Hallermann-Streiff syndrome. ( 22996707 )
2012
17
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? ( 21792277 )
2011
18
Surgical correction of Hallermann-Streiff syndrome: a case report of esotropia, entropion, and blepharoptosis. ( 21461230 )
2011
19
Hallermann-Streiff syndrome: case report and literature review. ( 21516279 )
2011
20
Hallermann-Streiff syndrome: a case report from Georgia. ( 21617280 )
2011
21
Reproductive success in patients with Hallermann-Streiff syndrome. ( 21815247 )
2011
22
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. ( 21821160 )
2011
23
Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. ( 22393346 )
2011
24
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. ( 22570643 )
2011
25
Retinal detachments involving the posterior pole in hallermann-streiff syndrome. ( 25389686 )
2011
26
Hallermann-Streiff syndrome with hemihypertrophy. ( 20964125 )
2010
27
Hallermann-Streiff syndrome: a case report. ( 21163145 )
2010
28
Hallermann-Streiff Syndrome: a case report from Turkey. ( 19218897 )
2009
29
Craniodentofacial manifestations in Hallermann-Streiff syndrome. ( 19241797 )
2009
30
Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome. ( 19247763 )
2009
31
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. ( 18193263 )
2008
32
Macular retinal detachment in Hallermann-Streiff syndrome. ( 18268225 )
2008
33
Corneal opacities in the Hallermann-Streiff syndrome. ( 18484310 )
2008
34
Hallermann-Streiff syndrome: those are not supernumerary teeth. ( 16615982 )
2006
35
Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum. ( 16225817 )
2005
36
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. ( 15581837 )
2004
37
An atypical Hallermann-Streiff syndrome. Focus on dental care and differential diagnosis. ( 14765641 )
2004
38
Hallermann-Streiff syndrome: a case review. ( 15347328 )
2004
39
Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. ( 12892173 )
2003
40
Case report: orofacial characteristics of Hallermann-Streiff Syndrome. ( 14529338 )
2003
41
Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. ( 10388418 )
1999
42
Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. ( 10573253 )
1999
43
Commentary on Hallermann-Streiff Syndrome: experience with 15 patients and review of the literature. ( 10576803 )
1999
44
Atrial septal defect in Hallermann Streiff syndrome. ( 9219014 )
1997
45
Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome. ( 9301367 )
1997
46
Hallermann--Streiff syndrome. ( 9586407 )
1997
47
What syndrome is this? Hallermann-Streiff syndrome. ( 8806131 )
1996
48
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. ( 8585575 )
1995
49
A typical Hallermann-Streiff syndrome in a 3 year old child. ( 8634201 )
1995
50
Hallermann-Streiff syndrome with Coats disease. ( 8014786 )
1994

Variations for Hallermann-Streiff Syndrome

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

76
# 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:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.65 GJA1 GJB1 ICMT NOTCH1 ZMPSTE24
2 endoplasmic reticulum membrane GO:0005789 9.55 GJA1 GJB1 ICMT NOTCH1 ZMPSTE24
3 gap junction GO:0005921 9.13 GJA1 GJB1 GJC2
4 connexin complex GO:0005922 8.8 GJA1 GJB1 GJC2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.78 ERBB4 GJA1 NOTCH1
2 negative regulation of cell proliferation GO:0008285 9.78 ERBB4 GJA1 LMNA NOTCH1
3 cell-cell signaling GO:0007267 9.75 GJA1 GJB1 GJC2
4 negative regulation of gene expression GO:0010629 9.67 GJA1 IGF1 NOTCH1 ZMPSTE24
5 regulation of cell migration GO:0030334 9.61 ERBB4 LMNA NOTCH1
6 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.6 IGF1 LMNA
7 positive regulation of cardiac muscle cell proliferation GO:0060045 9.59 ERBB4 NOTCH1
8 regulation of heart contraction GO:0008016 9.58 GJA1 ZMPSTE24
9 nucleus organization GO:0006997 9.57 LMNA ZMPSTE24
10 regulation of multicellular organism growth GO:0040014 9.56 IGF1 ZMPSTE24
11 positive regulation of JAK-STAT cascade GO:0046427 9.55 ERBB4 NOTCH1
12 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.54 GJA1 ZMPSTE24
13 positive regulation of Ras protein signal transduction GO:0046579 9.52 IGF1 NOTCH1
14 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.51 IGF1 LMNA
15 nuclear envelope organization GO:0006998 9.49 LMNA ZMPSTE24
16 cardiac conduction GO:0061337 9.46 GJA1 ZMPSTE24
17 gap junction assembly GO:0016264 9.4 GJA1 GJB1
18 cell communication GO:0007154 9.33 GJA1 GJB1 GJC2
19 cell communication by electrical coupling GO:0010644 9.32 GJA1 GJC2
20 epididymis development GO:1905867 9.26 GJA1 GJB1
21 regulation of bone mineralization GO:0030500 9.13 GJA1 OMD ZMPSTE24
22 positive regulation of gene expression GO:0010628 9.1 GJA1 GJC2 IGF1 LMNA NOTCH1 ZMPSTE24

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJA1 GJC2
2 gap junction channel activity GO:0005243 8.8 GJA1 GJB1 GJC2

Sources for Hallermann-Streiff Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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