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MCID: HLL001
MIFTS: 58

Hallermann-Streiff Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Hallermann-Streiff Syndrome

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MalaCards integrated aliases for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 53 12 49 55 71 28 13 14
Francois Dyscephalic Syndrome 53 12 72 49 71
Hallermann's Syndrome 12 41 69
Hss 53 49 71
Hallermann Streiff Francois Syndrome 49
François Dyscephalic Syndrome 55
Oculomandibulofacial Syndrome 55
Hallerman - Streiff Syndrome 12
Hallermann Streiff Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
hallermann-streiff syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
isolated cases

Miscellaneous:
all cases have been sporadic


HPO:

31
hallermann-streiff syndrome:
Inheritance sporadic


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 55  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Hallermann-Streiff Syndrome

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NIH Rare Diseases : 49 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 cataract, 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 Proteoglycans in cancer and Adipogenesis. Affiliated tissues include skin, bone and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 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 : 71 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.

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

Wikipedia : 72 Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair... more...

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Related Diseases for Hallermann-Streiff Syndrome

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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 all 37)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 1 10.9
2 cataract 10.5
3 retinal detachment 10.4
4 retinitis 10.4
5 hypotrichosis 10.3
6 mandibuloacral dysplasia with type a lipodystrophy 10.2 LMNA ZMPSTE24
7 charcot-marie-tooth disease, x-linked dominant, 1 10.2 GJB1 GJC2
8 hypomyelinating leukoencephalopathy 10.2 GJA1 GJC2
9 restrictive dermopathy, lethal 10.2 LMNA ZMPSTE24
10 acroosteolysis 10.2 LMNA ZMPSTE24
11 pelizaeus-merzbacher-like disease 10.2 GJA1 GJB1 GJC2
12 ovarian cystadenoma 10.1 LMNA ZMPSTE24
13 aniridia 1 10.1
14 apnea, obstructive sleep 10.1
15 oculodentodigital dysplasia 10.1
16 teeth, supernumerary 10.1
17 hemihyperplasia, isolated 10.1
18 coats disease 10.1
19 bone fracture 10.1
20 sleep apnea 10.1
21 sclerocornea 10.1
22 tracheomalacia 10.1
23 microphthalmia 10.1
24 enophthalmos 10.1
25 heart disease 10.1
26 choroiditis 10.1
27 entropion 10.1
28 atrial heart septal defect 10.1
29 laryngitis 10.1
30 hypopituitarism 10.1
31 esotropia 10.1
32 pseudopapilledema 10.1 IGF1 IGF2
33 reynolds syndrome 10.0 LMNA ZMPSTE24
34 dna, satellite, iii 9.9
35 spherocytosis, type 3 9.9
36 allergic hypersensitivity disease 9.9
37 fasting hypoglycemia 9.7 IGF1 IGF2

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



Diseases related to Hallermann-Streiff Syndrome
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Symptoms & Phenotypes for Hallermann-Streiff Syndrome

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Symptoms via clinical synopsis from OMIM:

53
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
hyperactivity
choreoathetosis
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 RibsSternum 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

Human phenotypes related to Hallermann-Streiff Syndrome:

55 31 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 frequent (33%) Frequent (79-30%) HP:0000272
2 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
4 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
5 intellectual disability 55 31 very rare (1%) Occasional (29-5%) HP:0001249
6 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
7 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
8 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
9 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
10 glossoptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000162
11 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
12 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
13 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
14 short foot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001773
15 reduced bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0004349
16 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
17 high, narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0002705
18 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
19 alopecia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001596
20 underdeveloped nasal alae 55 31 frequent (33%) Frequent (79-30%) HP:0000430
21 telecanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000506
22 cerebellar hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001321
23 microphthalmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000568
24 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
25 small hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0200055
26 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
27 increased number of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0011069
28 narrow mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000160
29 abnormality of the fontanelles or cranial sutures 55 31 frequent (33%) Frequent (79-30%) HP:0000235
30 hypotrichosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001006
31 choanal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000453
32 recurrent fractures 55 31 frequent (33%) Frequent (79-30%) HP:0002757
33 convex nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000444
34 sparse body hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002231
35 tracheomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002779
36 uveitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000554
37 sparse eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000653
38 abdominal situs inversus 55 31 occasional (7.5%) Occasional (29-5%) HP:0003363
39 congenital cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000519
40 natal tooth 55 31 frequent (33%) Frequent (79-30%) HP:0000695
41 dermal atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0004334
42 abnormality of hair texture 55 31 frequent (33%) Frequent (79-30%) HP:0010719
43 short ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000773
44 rib exostoses 55 31 hallmark (90%) Very frequent (99-80%) HP:0000896
45 proportionate short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003508
46 dry skin 31 HP:0000958
47 low-set ears 31 HP:0000369
48 pectus excavatum 31 HP:0000767
49 scoliosis 31 HP:0002650
50 hyperlordosis 31 HP:0003307

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

25 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.81 IGF1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.81 BCS1L
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.81 IGF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.81 IGF2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.81 NOTCH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.81 IGF2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.81 NOTCH1 IGF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.81 NOTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.81 IGF2 NOTCH1 BCS1L IGF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.81 IGF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.81 IGF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.81 IGF2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.81 IGF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.81 NOTCH1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.81 IGF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.81 IGF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.81 NOTCH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.81 IGF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.81 BCS1L
20 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.81 NOTCH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.81 IGF2 BCS1L
22 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.81 IGF2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.81 NOTCH1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.81 IGF2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.81 IGF2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.81 IGF1

MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

43 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 ZMPSTE24 BCOR BCS1L ERBB4 GJA1 GJB1
2 growth/size/body region MP:0005378 10.29 BCOR BCS1L GJA1 GJB1 ICMT IGF1
3 behavior/neurological MP:0005386 10.27 LMNA MID1 OMD ZMPSTE24 BCS1L ERBB4
4 hematopoietic system MP:0005397 10.27 BCOR ERBB4 GJA1 GJB1 GJC2 ICMT
5 immune system MP:0005387 10.26 GJB1 GJC2 IGF1 IGF2 LMNA NOTCH1
6 mortality/aging MP:0010768 10.24 NOTCH1 OPTN WNT5A ZMPSTE24 BCOR BCS1L
7 cardiovascular system MP:0005385 10.22 BCOR ERBB4 GJA1 IGF1 IGF2 LMNA
8 endocrine/exocrine gland MP:0005379 10.18 BCS1L ERBB4 GJA1 IGF1 IGF2 LMNA
9 embryo MP:0005380 10.14 BCOR ERBB4 GJA1 ICMT IGF2 MID1
10 craniofacial MP:0005382 10.09 ERBB4 GJA1 IGF2 LMNA NOTCH1 WNT5A
11 nervous system MP:0003631 10.07 BCOR ERBB4 GJA1 GJB1 GJC2 ICMT
12 integument MP:0010771 10.06 ERBB4 GJA1 ICMT IGF1 IGF2 LMNA
13 liver/biliary system MP:0005370 10.01 LMNA NOTCH1 WNT5A ZMPSTE24 BCS1L GJB1
14 muscle MP:0005369 9.92 LMNA MID1 NOTCH1 ZMPSTE24 ERBB4 GJA1
15 limbs/digits/tail MP:0005371 9.91 GJA1 IGF1 IGF2 LMNA WNT5A ZMPSTE24
16 normal MP:0002873 9.81 ERBB4 GJA1 GJC2 ICMT IGF1 LMNA
17 renal/urinary system MP:0005367 9.5 BCS1L IGF1 IGF2 LMNA NOTCH1 WNT5A
18 respiratory system MP:0005388 9.17 ERBB4 GJA1 IGF1 IGF2 LMNA NOTCH1
Sources

Drugs & Therapeutics for Hallermann-Streiff Syndrome

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

Cochrane evidence based reviews: hallermann's syndrome

Sources

Genetic Tests for Hallermann-Streiff Syndrome

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Genetic tests related to Hallermann-Streiff Syndrome:

# Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome 28
Sources

Anatomical Context for Hallermann-Streiff Syndrome

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MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

38
Skin, Bone, Eye, Heart, Tongue, Brain, Cerebellum
Sources

Publications for Hallermann-Streiff Syndrome

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Articles related to Hallermann-Streiff Syndrome:

(show top 50) (show all 98)
# Title Authors Year
1
Hallermann-Streiff syndrome with bilateral microphthalmia, pupillary membranes and cataract absorption. ( 28730099 )
2017
2
EXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME. ( 27648586 )
2016
3
Brown-McLean Syndrome in a Patient with Hallermann-Streiff Syndrome. ( 26865807 )
2016
4
Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. ( 26194770 )
2015
5
Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. ( 25966733 )
2015
6
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
7
Hallermann-streiff syndrome. ( 24082185 )
2013
8
Hallermann-Streiff syndrome without cataract: case report from Kosova. ( 24601178 )
2013
9
Hallermann-Streiff syndrome with cutaneous manifestations. ( 24168356 )
2013
10
Bilateral posterior semicircular canal dehiscence in the setting of Hallermann-Streiff syndrome. ( 22996707 )
2012
11
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. ( 22486910 )
2012
12
Orodental findings in Hallermann-Streiff syndrome. ( 22842271 )
2012
13
Hallermann-Streiff syndrome: case report and literature review. ( 21516279 )
2011
14
Retinal detachments involving the posterior pole in hallermann-streiff syndrome. ( 25389686 )
2011
15
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. ( 22570643 )
2011
16
Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. ( 22393346 )
2011
17
Hallermann-Streiff syndrome: a case report from Georgia. ( 21617280 )
2011
18
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? ( 21792277 )
2011
19
Surgical correction of Hallermann-Streiff syndrome: a case report of esotropia, entropion, and blepharoptosis. ( 21461230 )
2011
20
Reproductive success in patients with Hallermann-Streiff syndrome. ( 21815247 )
2011
21
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. ( 21821160 )
2011
22
Hallermann-Streiff syndrome: a case report. ( 21163145 )
2010
23
Hallermann-Streiff syndrome with hemihypertrophy. ( 20964125 )
2010
24
Hallermann-Streiff Syndrome: a case report from Turkey. ( 19218897 )
2009
25
Craniodentofacial manifestations in Hallermann-Streiff syndrome. ( 19241797 )
2009
26
Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome. ( 19247763 )
2009
27
Corneal opacities in the Hallermann-Streiff syndrome. ( 18484310 )
2008
28
Macular retinal detachment in Hallermann-Streiff syndrome. ( 18268225 )
2008
29
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. ( 18193263 )
2008
30
Hallermann-Streiff syndrome: those are not supernumerary teeth. ( 16615982 )
2006
31
Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum. ( 16225817 )
2005
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
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. ( 15581837 )
2004
35
Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. ( 12892173 )
2003
36
Case report: orofacial characteristics of Hallermann-Streiff Syndrome. ( 14529338 )
2003
37
Commentary on Hallermann-Streiff Syndrome: experience with 15 patients and review of the literature. ( 10576803 )
1999
38
Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. ( 10388418 )
1999
39
Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. ( 10573253 )
1999
40
Atrial septal defect in Hallermann Streiff syndrome. ( 9219014 )
1997
41
Hallermann--Streiff syndrome. ( 9586407 )
1997
42
Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome. ( 9301367 )
1997
43
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. ( 8585575 )
1995
44
A typical Hallermann-Streiff syndrome in a 3 year old child. ( 8634201 )
1995
45
Hallermann-Streiff syndrome in one of dizygotic twins. ( 8116678 )
1994
46
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. ( 7864053 )
1994
47
Hallermann-Streiff syndrome: airway problems during anaesthesia. ( 9136243 )
1994
48
Hallermann-Streiff syndrome with Coats disease. ( 8014786 )
1994
49
MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication. ( 8275573 )
1993
50
Hallermann-Streiff syndrome. ( 8262609 )
1993
Sources

Variations for Hallermann-Streiff Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Arg76His VAR_058997 rs267606844

Sources

Expression for Hallermann-Streiff Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Proteoglycans in cancer 36
11.93 ERBB4 IGF1 IGF2 WNT5A
2
Adipogenesis 1
11.77 IGF1 LMNA ZMPSTE24
3
Gap junction trafficking 62
Show member pathways
 11.57 GJA1 GJB1 GJC2
4
Cell adhesion_ECM remodeling 21
11.22 ERBB4 IGF1 IGF2
5
Cardiac Progenitor Differentiation 1
11.06 IGF1 IGF2 NOTCH1
6
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 61
11.05 GJA1 IGF1 NOTCH1 WNT5A
7
Differentiation Pathway 1
10.81 IGF1 NOTCH1 WNT5A
8
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 62
10.78 IGF1 IGF2
9
TarBasePathway 1
10.71 GJA1 IGF1
10
Transport of connexins along the secretory pathway 62
Show member pathways
 10.32 GJA1 GJB1
Sources

GO Terms for Hallermann-Streiff Syndrome

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

# 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)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.91 ERBB4 IGF1 IGF2 NOTCH1 WNT5A
2 heart development GO:0007507 9.78 BCOR ERBB4 GJA1 NOTCH1
3 axonogenesis GO:0007409 9.72 NOTCH1 OMD WNT5A
4 regulation of cell migration GO:0030334 9.67 ERBB4 LMNA NOTCH1
5 regulation of bone mineralization GO:0030500 9.58 GJA1 OMD
6 positive regulation of epithelial cell proliferation GO:0050679 9.58 IGF1 NOTCH1 WNT5A
7 nuclear envelope organization GO:0006998 9.57 LMNA ZMPSTE24
8 positive regulation of Ras protein signal transduction GO:0046579 9.56 IGF1 NOTCH1
9 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.54 IGF1 LMNA
10 heart looping GO:0001947 9.54 GJA1 NOTCH1 WNT5A
11 positive regulation of glycogen biosynthetic process GO:0045725 9.52 IGF1 IGF2
12 cell fate commitment GO:0045165 9.5 ERBB4 NOTCH1 WNT5A
13 gap junction assembly GO:0016264 9.46 GJA1 GJB1
14 pericardium morphogenesis GO:0003344 9.43 NOTCH1 WNT5A
15 negative regulation of mesenchymal cell proliferation GO:0072201 9.26 LMNA WNT5A
16 cell communication by electrical coupling GO:0010644 9.16 GJA1 GJC2
17 cell communication GO:0007154 9.13 GJA1 GJB1 GJC2
18 epididymis development GO:1905867 8.62 GJA1 GJB1

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

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor receptor binding GO:0005159 9.16 IGF1 IGF2
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJA1 GJC2
3 gap junction channel activity GO:0005243 8.8 GJA1 GJB1 GJC2
Sources

Sources for Hallermann-Streiff Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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