MCID: HLL001
MIFTS: 53

Hallermann-Streiff Syndrome malady

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

Aliases & Classifications for Hallermann-Streiff Syndrome

About this section

Aliases & Descriptions for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 52 11 48 24 54 70 12 13
Francois Dyscephalic Syndrome 11 48 24 70
Hallermann's Syndrome 11 39 68
Hallermann Streiff Syndrome 48 27
Hss 48 70
 
Hallermann Streiff Francois Syndrome 48
François Dyscephalic Syndrome 54
Oculomandibulofacial Syndrome 54
Hallerman - Streiff Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
hallermann-streiff syndrome:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

64
hallermann-streiff syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 234100
Disease Ontology11 DOID:4534
MeSH39 D006210
NCIt45 C84746
SNOMED-CT62 205417000, 7903009
Orphanet54 ORPHA2108
UMLS via Orphanet69 C0018522
ICD10 via Orphanet31 Q87.0
MedGen37 C0018522

Summaries for Hallermann-Streiff Syndrome

About this section
NIH Rare Diseases:48 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 disorders, and has symptoms including micrognathia, convex nasal ridge and cataract. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways are Gap junction trafficking and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include skin, bone and eye, and related mouse phenotypes are limbs/digits/tail and reproductive system.

Disease Ontology:11 A syndrome that affects growth, cranial development, hair growth and dental development.

OMIM:52 Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing),... (234100) more...

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Hallermann-Streiff Syndrome

About this section

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



Diseases related to hallermann-streiff syndrome

Symptoms & Phenotypes for Hallermann-Streiff Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

234100

Clinical features from OMIM:

234100

Human phenotypes related to Hallermann-Streiff Syndrome:

 64 54 (show all 107)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia64 54 hallmark (90%) Frequent (79-30%) HP:0000347
2 convex nasal ridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000444
3 cataract64 hallmark (90%) HP:0000518
4 abnormality of the ribs64 hallmark (90%) HP:0000772
5 abnormality of the clavicle64 hallmark (90%) HP:0000889
6 alopecia64 54 hallmark (90%) Very frequent (99-80%) HP:0001596
7 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
8 short stature64 hallmark (90%) HP:0004322
9 reduced bone mineral density64 54 hallmark (90%) Very frequent (99-80%) HP:0004349
10 aplasia/hypoplasia affecting the eye64 hallmark (90%) HP:0008056
11 aplasia/hypoplasia of the skin64 hallmark (90%) HP:0008065
12 narrow mouth64 54 typical (50%) Frequent (79-30%) HP:0000160
13 glossoptosis64 54 typical (50%) Frequent (79-30%) HP:0000162
14 abnormality of the palate64 typical (50%) HP:0000174
15 abnormality of the fontanelles or cranial sutures64 54 typical (50%) Frequent (79-30%) HP:0000235
16 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
17 telecanthus64 54 typical (50%) Frequent (79-30%) HP:0000506
18 recurrent fractures64 54 typical (50%) Frequent (79-30%) HP:0002757
19 abnormality of the nares64 typical (50%) HP:0005288
20 advanced eruption of teeth64 typical (50%) HP:0006288
21 hypoplasia of the zygomatic bone64 typical (50%) HP:0010669
22 abnormality of hair texture64 54 typical (50%) Frequent (79-30%) HP:0010719
23 increased number of teeth64 54 typical (50%) Frequent (79-30%) HP:0011069
24 intellectual disability64 54 15% Occasional (29-5%) HP:0001249
25 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
26 microcephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000252
27 choanal atresia64 54 occasional (7.5%) Occasional (29-5%) HP:0000453
28 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
29 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
30 myopia64 54 occasional (7.5%) Occasional (29-5%) HP:0000545
31 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
32 hypothyroidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000821
33 congestive heart failure64 54 occasional (7.5%) Occasional (29-5%) HP:0001635
34 short foot64 54 occasional (7.5%) Occasional (29-5%) HP:0001773
35 respiratory insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0002093
36 tracheomalacia64 54 occasional (7.5%) Occasional (29-5%) HP:0002779
37 abdominal situs inversus64 54 occasional (7.5%) Occasional (29-5%) HP:0003363
38 clinodactyly of the 5th finger64 54 occasional (7.5%) Occasional (29-5%) HP:0004209
39 short palm64 occasional (7.5%) HP:0004279
40 aplasia/hypoplasia of the cerebellum64 occasional (7.5%) HP:0007360
41 inflammatory abnormality of the eye64 occasional (7.5%) HP:0100533
42 cognitive impairment64 occasional (7.5%) HP:0100543
43 narrow palate64 HP:0000189
44 high palate64 HP:0000218
45 everted lower lip vermilion64 HP:0000232
46 thin vermilion border64 HP:0000233
47 parietal bossing64 HP:0000242
48 brachycephaly64 54 Very frequent (99-80%) HP:0000248
49 dolichocephaly64 HP:0000268
50 malar flattening64 54 Frequent (79-30%) HP:0000272
51 low-set ears64 HP:0000369
52 underdeveloped nasal alae64 54 Frequent (79-30%) HP:0000430
53 narrow nose64 HP:0000460
54 downslanted palpebral fissures64 HP:0000494
55 sparse and thin eyebrow64 HP:0000535
56 chorioretinal coloboma64 HP:0000567
57 microphthalmia64 54 Very frequent (99-80%) HP:0000568
58 optic nerve coloboma64 HP:0000588
59 blue sclerae64 HP:0000592
60 iris coloboma64 HP:0000612
61 sparse eyelashes64 54 Frequent (79-30%) HP:0000653
62 dental malocclusion64 HP:0000689
63 natal tooth64 54 Frequent (79-30%) HP:0000695
64 hyperactivity64 HP:0000752
65 pectus excavatum64 HP:0000767
66 thin ribs64 HP:0000883
67 dry skin64 HP:0000958
68 telangiectasia64 HP:0001009
69 abnormality of the hand64 HP:0001155
70 choreoathetosis64 HP:0001266
71 joint hypermobility64 HP:0001382
72 small for gestational age64 HP:0001518
73 selective tooth agenesis64 HP:0001592
74 abnormality of the nasopharynx64 HP:0001739
75 generalized tonic-clonic seizures64 HP:0002069
76 pulmonary hypertension64 HP:0002092
77 recurrent respiratory infections64 HP:0002205
78 fine hair64 HP:0002213
79 spina bifida64 HP:0002414
80 wormian bones64 HP:0002645
81 scoliosis64 HP:0002650
82 platybasia64 HP:0002691
83 obstructive sleep apnea64 HP:0002870
84 metaphyseal widening64 HP:0003016
85 slender long bone64 HP:0003100
86 hyperlordosis64 HP:0003307
87 proportionate short stature64 54 Very frequent (99-80%) HP:0003508
88 dermal atrophy64 54 Very frequent (99-80%) HP:0004334
89 hypotrichosis of the scalp64 HP:0004782
90 recurrent pneumonia64 HP:0006532
91 decreased number of sternal ossification centers64 HP:0006611
92 sparse hair64 HP:0008070
93 thin calvarium64 HP:0010539
94 abnormality of the tongue54 Frequent (79-30%)
95 abnormality of the teeth54 Very frequent (99-80%)
96 congenital cataract54 Very frequent (99-80%)
97 sparse eyebrow54 Frequent (79-30%)
98 uveitis54 Occasional (29-5%)
99 short ribs54 Very frequent (99-80%)
100 rib exostoses54 Very frequent (99-80%)
101 abnormality of the skull54 Occasional (29-5%)
102 hypotrichosis54 Very frequent (99-80%)
103 cerebellar hypoplasia54 Occasional (29-5%)
104 sparse body hair54 Very frequent (99-80%)
105 malformation of the heart and great vessels54 Occasional (29-5%)
106 high, narrow palate54 Frequent (79-30%)
107 small hand54 Occasional (29-5%)

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

41 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.3GJA1, IGF1, IGF2, LMNA, PTCH1, WNT5A
2MP:00053898.0BCS1L, ERBB4, GJA1, IGF1, IGF2, LMNA
3MP:00053917.9GJA1, GJB1, GJC2, IGF2, LMNA, NHS
4MP:00053827.8ERBB4, GJA1, IGF2, LMNA, NOTCH1, PTCH1
5MP:00053907.7GJA1, IGF1, IGF2, LMNA, NOTCH1, PTCH1
6MP:00053887.6ERBB4, GJA1, IGF1, IGF2, LMNA, NOTCH1
7MP:00053707.6BCS1L, GJB1, ICMT, IGF2, LMNA, NOTCH1
8MP:00053697.5ERBB4, GJA1, IGF1, IGF2, LMNA, MID1
9MP:00053677.3BCS1L, IGF1, IGF2, LMNA, NOTCH1, PTCH1
10MP:00053807.3BCOR, ERBB4, GJA1, ICMT, IGF2, MID1
11MP:00053797.1BCS1L, ERBB4, GJA1, IGF1, IGF2, LMNA
12MP:00053867.1BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF2
13MP:00107716.8ERBB4, GJA1, ICMT, IGF1, IGF2, LMNA
14MP:00028736.5ERBB4, GJA1, GJC2, ICMT, IGF1, LMNA
15MP:00053766.5BCS1L, GJA1, GJB1, IGF1, IGF2, LMNA
16MP:00053876.4ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
17MP:00053856.4BCOR, ERBB4, GJA1, IGF1, IGF2, LMNA
18MP:00053975.8ERBB4, GJA1, GJB1, GJC2, ICMT, IGF1
19MP:00053845.7BCS1L, ERBB4, GJA1, GJB1, GJC2, ICMT
20MP:00053785.6BCOR, BCS1L, GJA1, GJB1, ICMT, IGF1
21MP:00036315.1BCOR, ERBB4, GJA1, GJB1, GJC2, ICMT
22MP:00107684.8BCOR, BCS1L, ERBB4, GJA1, GJB1, GJC2

Drugs & Therapeutics for Hallermann-Streiff Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hallermann-Streiff Syndrome


Cochrane evidence based reviews: hallermann's syndrome

Genetic Tests for Hallermann-Streiff Syndrome

About this section

Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome27 24

Anatomical Context for Hallermann-Streiff Syndrome

About this section

MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

36
Skin, Bone, Eye, Heart, Cerebellum, Tongue, Brain

Publications for Hallermann-Streiff Syndrome

About this section

Articles related to Hallermann-Streiff Syndrome:

(show top 50)    (show all 97)
idTitleAuthorsYear
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
Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. (26194770)
2015
4
Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. (25966733)
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. (24082185)
2013
7
Hallermann-Streiff syndrome with cutaneous manifestations. (24168356)
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
Orodental findings in Hallermann-Streiff syndrome. (22842271)
2012
11
Bilateral posterior semicircular canal dehiscence in the setting of Hallermann-Streiff syndrome. (22996707)
2012
12
Reproductive success in patients with Hallermann-Streiff syndrome. (21815247)
2011
13
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? (21792277)
2011
14
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. (22570643)
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
Hallermann-Streiff syndrome: case report and literature review. (21516279)
2011
18
Retinal detachments involving the posterior pole in hallermann-streiff syndrome. (25389686)
2011
19
Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. (22393346)
2011
20
Surgical correction of Hallermann-Streiff syndrome: a case report of esotropia, entropion, and blepharoptosis. (21461230)
2011
21
Hallermann-Streiff syndrome: a case report. (21163145)
2010
22
Hallermann-Streiff syndrome with hemihypertrophy. (20964125)
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
Macular retinal detachment in Hallermann-Streiff syndrome. (18268225)
2008
27
Corneal opacities in the Hallermann-Streiff syndrome. (18484310)
2008
28
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. (18193263)
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
Hallermann-Streiff syndrome: a case review. (15347328)
2004
32
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. (15581837)
2004
33
An atypical Hallermann-Streiff syndrome. Focus on dental care and differential diagnosis. (14765641)
2004
34
Case report: orofacial characteristics of Hallermann-Streiff Syndrome. (14529338)
2003
35
Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. (12892173)
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
Atrial septal defect in Hallermann Streiff syndrome. (9219014)
1997
41
Hallermann--Streiff syndrome. (9586407)
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
Hallermann-Streiff syndrome in one of dizygotic twins. (8116678)
1994
45
Hallermann-Streiff syndrome: airway problems during anaesthesia. (9136243)
1994
46
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. (7864053)
1994
47
Hallermann-Streiff syndrome with Coats disease. (8014786)
1994
48
Hallermann-Streiff syndrome. (8262609)
1993
49
MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication. (8275573)
1993
50
Hallermann-Streiff syndrome. (1428149)
1992

Variations for Hallermann-Streiff Syndrome

About this section

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

70
id Symbol AA change Variation ID SNP ID
1GJA1p.Arg76HisVAR_058997rs267606844

Expression for genes affiliated with Hallermann-Streiff Syndrome

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

Pathways for genes affiliated with Hallermann-Streiff Syndrome

About this section

GO Terms for genes affiliated with Hallermann-Streiff Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:000592210.1GJA1, GJB1, GJC2
2gap junctionGO:00059219.7GJA1, GJB1, GJC2

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1gap junction assemblyGO:001626410.7GJA1, GJB1
2nuclear envelope organizationGO:000699810.5LMNA, ZMPSTE24
3negative regulation of mesenchymal cell proliferationGO:007220110.5LMNA, WNT5A
4lens development in camera-type eyeGO:000208810.4GJA1, NHS, WNT5A
5mammary gland epithelial cell differentiationGO:006064410.4ERBB4, PTCH1
6positive regulation of glycogen biosynthetic processGO:004572510.3IGF1, IGF2
7regulation of bone mineralizationGO:003050010.3GJA1, OMD
8negative regulation of release of cytochrome c from mitochondriaGO:009020110.3IGF1, LMNA
9pericardium morphogenesisGO:000334410.3NOTCH1, WNT5A
10positive regulation of cardiac muscle cell proliferationGO:006004510.2ERBB4, NOTCH1
11positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.1ERBB4, IGF1
12heart loopingGO:000194710.1GJA1, NOTCH1, WNT5A
13positive regulation of osteoblast differentiationGO:004566910.0GJA1, IGF1, LMNA
14cell fate commitmentGO:00451659.9ERBB4, NOTCH1, WNT5A
15embryonic limb morphogenesisGO:00303269.8NOTCH1, PTCH1, WNT5A
16axonogenesisGO:00074099.7NOTCH1, OMD, WNT5A
17heart developmentGO:00075079.7BCOR, ERBB4, GJA1, NOTCH1
18somite developmentGO:00610539.7PTCH1, WNT5A
19positive regulation of epithelial cell proliferationGO:00506799.7IGF1, NOTCH1, WNT5A
20regulation of cell migrationGO:00303349.4ERBB4, LMNA, NOTCH1
21positive regulation of cell proliferationGO:00082849.0ERBB4, IGF1, IGF2, NOTCH1, WNT5A
22positive regulation of transcription, DNA-templatedGO:00458938.7ERBB4, IGF1, NOTCH1, PTCH1, WNT5A

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:000524310.0GJA1, GJB1, GJC2
2insulin-like growth factor receptor bindingGO:00051599.6IGF1, IGF2

Sources for Hallermann-Streiff Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet