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

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Aliases & Descriptions for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 51 11 47 24 53 69 12 13
Francois Dyscephalic Syndrome 11 47 24 69
Hallermann's Syndrome 11 38 67
Hallermann Streiff Syndrome 47 26
Hss 47 69
 
Hallermann Streiff Francois Syndrome 47
François Dyscephalic Syndrome 53
Oculomandibulofacial Syndrome 53
Hallerman - Streiff Syndrome 11

Characteristics:

Orphanet epidemiological data:

53
hallermann-streiff syndrome:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

63
hallermann-streiff syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM51 234100
Disease Ontology11 DOID:4534
MeSH38 D006210
NCIt44 C84746
SNOMED-CT61 205417000, 7903009
Orphanet53 ORPHA2108
UMLS via Orphanet68 C0018522
ICD10 via Orphanet30 Q87.0
MedGen36 C0018522

Summaries for Hallermann-Streiff Syndrome

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NIH Rare Diseases:47 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.

UniProtKB/Swiss-Prot:69 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:51 Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing),... (234100) more...

Related Diseases for Hallermann-Streiff Syndrome

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



Diseases related to hallermann-streiff syndrome

Symptoms for Hallermann-Streiff Syndrome

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Symptoms by clinical synopsis from OMIM:

234100

Clinical features from OMIM:

234100

Human phenotypes related to Hallermann-Streiff Syndrome:

 63 53 (show all 107)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia63 53 hallmark (90%) Frequent (79-30%) HP:0000347
2 convex nasal ridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000444
3 cataract63 hallmark (90%) HP:0000518
4 abnormality of the ribs63 hallmark (90%) HP:0000772
5 abnormality of the clavicle63 hallmark (90%) HP:0000889
6 alopecia63 53 hallmark (90%) Very frequent (99-80%) HP:0001596
7 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
8 short stature63 hallmark (90%) HP:0004322
9 reduced bone mineral density63 53 hallmark (90%) Very frequent (99-80%) HP:0004349
10 aplasia/hypoplasia affecting the eye63 hallmark (90%) HP:0008056
11 aplasia/hypoplasia of the skin63 hallmark (90%) HP:0008065
12 narrow mouth63 53 typical (50%) Frequent (79-30%) HP:0000160
13 glossoptosis63 53 typical (50%) Frequent (79-30%) HP:0000162
14 abnormality of the palate63 typical (50%) HP:0000174
15 abnormality of the fontanelles or cranial sutures63 53 typical (50%) Frequent (79-30%) HP:0000235
16 visual impairment63 53 typical (50%) Frequent (79-30%) HP:0000505
17 telecanthus63 53 typical (50%) Frequent (79-30%) HP:0000506
18 recurrent fractures63 53 typical (50%) Frequent (79-30%) HP:0002757
19 abnormality of the nares63 typical (50%) HP:0005288
20 advanced eruption of teeth63 typical (50%) HP:0006288
21 hypoplasia of the zygomatic bone63 typical (50%) HP:0010669
22 abnormality of hair texture63 53 typical (50%) Frequent (79-30%) HP:0010719
23 increased number of teeth63 53 typical (50%) Frequent (79-30%) HP:0011069
24 intellectual disability63 53 15% Occasional (29-5%) HP:0001249
25 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
26 microcephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000252
27 choanal atresia63 53 occasional (7.5%) Occasional (29-5%) HP:0000453
28 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
29 glaucoma63 53 occasional (7.5%) Occasional (29-5%) HP:0000501
30 myopia63 53 occasional (7.5%) Occasional (29-5%) HP:0000545
31 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
32 hypothyroidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000821
33 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
34 short foot63 53 occasional (7.5%) Occasional (29-5%) HP:0001773
35 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
36 tracheomalacia63 53 occasional (7.5%) Occasional (29-5%) HP:0002779
37 abdominal situs inversus63 53 occasional (7.5%) Occasional (29-5%) HP:0003363
38 clinodactyly of the 5th finger63 53 occasional (7.5%) Occasional (29-5%) HP:0004209
39 short palm63 occasional (7.5%) HP:0004279
40 aplasia/hypoplasia of the cerebellum63 occasional (7.5%) HP:0007360
41 inflammatory abnormality of the eye63 occasional (7.5%) HP:0100533
42 cognitive impairment63 occasional (7.5%) HP:0100543
43 narrow palate63 HP:0000189
44 high palate63 HP:0000218
45 everted lower lip vermilion63 HP:0000232
46 thin vermilion border63 HP:0000233
47 parietal bossing63 HP:0000242
48 brachycephaly63 53 Very frequent (99-80%) HP:0000248
49 dolichocephaly63 HP:0000268
50 malar flattening63 53 Frequent (79-30%) HP:0000272
51 low-set ears63 HP:0000369
52 underdeveloped nasal alae63 53 Frequent (79-30%) HP:0000430
53 narrow nose63 HP:0000460
54 downslanted palpebral fissures63 HP:0000494
55 sparse and thin eyebrow63 HP:0000535
56 chorioretinal coloboma63 HP:0000567
57 microphthalmia63 53 Very frequent (99-80%) HP:0000568
58 optic nerve coloboma63 HP:0000588
59 blue sclerae63 HP:0000592
60 iris coloboma63 HP:0000612
61 sparse eyelashes63 53 Frequent (79-30%) HP:0000653
62 dental malocclusion63 HP:0000689
63 natal tooth63 53 Frequent (79-30%) HP:0000695
64 hyperactivity63 HP:0000752
65 pectus excavatum63 HP:0000767
66 thin ribs63 HP:0000883
67 dry skin63 HP:0000958
68 telangiectasia63 HP:0001009
69 abnormality of the hand63 HP:0001155
70 choreoathetosis63 HP:0001266
71 joint hypermobility63 HP:0001382
72 small for gestational age63 HP:0001518
73 selective tooth agenesis63 HP:0001592
74 abnormality of the nasopharynx63 HP:0001739
75 generalized tonic-clonic seizures63 HP:0002069
76 pulmonary hypertension63 HP:0002092
77 recurrent respiratory infections63 HP:0002205
78 fine hair63 HP:0002213
79 spina bifida63 HP:0002414
80 wormian bones63 HP:0002645
81 scoliosis63 HP:0002650
82 platybasia63 HP:0002691
83 obstructive sleep apnea63 HP:0002870
84 metaphyseal widening63 HP:0003016
85 slender long bone63 HP:0003100
86 hyperlordosis63 HP:0003307
87 proportionate short stature63 53 Very frequent (99-80%) HP:0003508
88 dermal atrophy63 53 Very frequent (99-80%) HP:0004334
89 hypotrichosis of the scalp63 HP:0004782
90 recurrent pneumonia63 HP:0006532
91 decreased number of sternal ossification centers63 HP:0006611
92 sparse hair63 HP:0008070
93 thin calvarium63 HP:0010539
94 abnormality of the tongue53 Frequent (79-30%)
95 abnormality of the teeth53 Very frequent (99-80%)
96 congenital cataract53 Very frequent (99-80%)
97 sparse eyebrow53 Frequent (79-30%)
98 uveitis53 Occasional (29-5%)
99 short ribs53 Very frequent (99-80%)
100 rib exostoses53 Very frequent (99-80%)
101 abnormality of the skull53 Occasional (29-5%)
102 hypotrichosis53 Very frequent (99-80%)
103 cerebellar hypoplasia53 Occasional (29-5%)
104 sparse body hair53 Very frequent (99-80%)
105 malformation of the heart and great vessels53 Occasional (29-5%)
106 high, narrow palate53 Frequent (79-30%)
107 small hand53 Occasional (29-5%)

Drugs & Therapeutics for Hallermann-Streiff Syndrome

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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

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Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome26 24

Anatomical Context for Hallermann-Streiff Syndrome

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MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

35
Skin, Bone, Eye, Heart, Cerebellum, Tongue, Brain

Animal Models for Hallermann-Streiff Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

40 (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

Publications for Hallermann-Streiff Syndrome

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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
Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. (26194770)
2015
3
Hallermann-streiff syndrome. (24082185)
2013
4
Hallermann-Streiff syndrome with cutaneous manifestations. (24168356)
2013
5
Reproductive success in patients with Hallermann-Streiff syndrome. (21815247)
2011
6
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? (21792277)
2011
7
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. (22570643)
2011
8
Hallermann-Streiff syndrome: a case report. (21163145)
2010
9
Hallermann-Streiff Syndrome: a case report from Turkey. (19218897)
2009
10
Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome. (19247763)
2009
11
Macular retinal detachment in Hallermann-Streiff syndrome. (18268225)
2008
12
Corneal opacities in the Hallermann-Streiff syndrome. (18484310)
2008
13
Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum. (16225817)
2005
14
Hallermann-Streiff syndrome: a case review. (15347328)
2004
15
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. (15581837)
2004
16
Case report: orofacial characteristics of Hallermann-Streiff Syndrome. (14529338)
2003
17
Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome. (9301367)
1997
18
Atrial septal defect in Hallermann Streiff syndrome. (9219014)
1997
19
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. (8585575)
1995
20
A typical Hallermann-Streiff syndrome in a 3 year old child. (8634201)
1995
21
Hallermann-Streiff syndrome in one of dizygotic twins. (8116678)
1994
22
Hallermann-Streiff syndrome: airway problems during anaesthesia. (9136243)
1994
23
Hallermann-Streiff syndrome. (8262609)
1993
24
Hallermann-Streiff syndrome. (1428149)
1992
25
Successful pregnancy in a patient with Hallermann-Streiff syndrome. (2014833)
1991
26
Hallermann-Streiff syndrome: a review. (1776643)
1991
27
Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. (1776646)
1991
28
Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: coincidence or clue? (1776644)
1991
29
Hallermann-Streiff syndrome with hypopituitarism contributing to growth failure. (1776645)
1991
30
Nasal continuous positive airway pressure (CPAP) therapy for obstructive sleep apnea in Hallermann-Streiff syndrome. (2406080)
1990
31
Evaluation and surgical correction of the facial skeletal deformity in Hallermann-Streiff syndrome. (3125273)
1987
32
Hallermann Streiff syndrome. (3679511)
1987
33
Hallermann-Streiff syndrome and its oral implications. (3455956)
1986
34
Hallermann-Streiff syndrome: report of case. (2942586)
1986
35
Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms. (3877095)
1985
36
Mandibulo-oculo-facial dyscephaly (Hallermann-Streiff syndrome) in a boy resulted from a consanguineous marriage. (7291945)
1981
37
Central serous choroidopathy in the Hallermann-Streiff Syndrome. (7294642)
1981
38
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. (6999913)
1980
39
Hallermann-Streiff syndrome. (7364147)
1980
40
Anesthetic management of a patient with Hallermann-Streiff syndrome. (572167)
1979
41
Bilateral dislocation of the hip in Hallermann-Streiff syndrome. A case report. (1184628)
1975
42
The Hallermann-Streiff syndrome. (4449119)
1974
43
Hallermann-Streiff syndrome. (4644299)
1972
44
Glaucoma in the Hallermann-Streiff syndrome. (5448132)
1970
45
Craniofacial and oral manifestations in oculomandibulodyscephaly (Hallermann-Streiff syndrome). (5272043)
1970
46
Hallermann-Streiff syndrome. (5782859)
1969
47
Hallermann-Streiff syndrome. Case report. (5668584)
1968
48
Dyscephalia mandibulo-oculo-facialis. Hallermann-Streiff syndrome. A case report. (5587180)
1967
49
Roentgen differentiation of the oculodentodigital syndrome and the Hallermann-Streiff syndrome in infancy. (4955061)
1966
50
Hallermann-Streiff syndrome, a dyscephaly with congenital cataracts and hypotrichosis. (13821451)
1960

Variations for Hallermann-Streiff Syndrome

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

69
id Symbol AA change Variation ID SNP ID
1GJA1p.Arg76HisVAR_058997rs267606844

Expression for genes affiliated with Hallermann-Streiff Syndrome

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

Pathways for genes affiliated with Hallermann-Streiff Syndrome

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GO Terms for genes affiliated with Hallermann-Streiff Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:000592210.0GJA1, 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:001626410.5GJA1, GJB1
2somite developmentGO:006105310.3PTCH1, WNT5A
3mammary gland epithelial cell differentiationGO:006064410.2ERBB4, PTCH1
4positive regulation of glycogen biosynthetic processGO:004572510.2IGF1, IGF2
5regulation of bone mineralizationGO:003050010.2GJA1, OMD
6negative regulation of mesenchymal cell proliferationGO:007220110.2LMNA, WNT5A
7negative regulation of release of cytochrome c from mitochondriaGO:009020110.1IGF1, LMNA
8nuclear envelope organizationGO:000699810.1LMNA, ZMPSTE24
9positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.1ERBB4, IGF1
10lens development in camera-type eyeGO:000208810.1GJA1, NHS, WNT5A
11positive regulation of cardiac muscle cell proliferationGO:006004510.0ERBB4, NOTCH1
12pericardium morphogenesisGO:00033449.8NOTCH1, WNT5A
13positive regulation of osteoblast differentiationGO:00456699.8GJA1, IGF1, LMNA
14cell fate commitmentGO:00451659.7ERBB4, NOTCH1, WNT5A
15heart loopingGO:00019479.6GJA1, NOTCH1, WNT5A
16embryonic limb morphogenesisGO:00303269.4NOTCH1, PTCH1, WNT5A
17positive regulation of epithelial cell proliferationGO:00506799.3IGF1, NOTCH1, WNT5A
18heart developmentGO:00075079.1BCOR, ERBB4, GJA1, NOTCH1
19regulation of cell migrationGO:00303349.0ERBB4, LMNA, NOTCH1
20axonogenesisGO:00074098.7NOTCH1, OMD, WNT5A
21positive regulation of transcription, DNA-templatedGO:00458938.5ERBB4, IGF1, NOTCH1, PTCH1, WNT5A
22positive regulation of cell proliferationGO:00082848.3ERBB4, IGF1, IGF2, NOTCH1, WNT5A

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.9GJA1, GJB1, GJC2
2insulin-like growth factor receptor bindingGO:00051599.6IGF1, IGF2

Sources for Hallermann-Streiff Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet